From 9ba32cf95cd08ac8168330af84502cfabb4f56c8 Mon Sep 17 00:00:00 2001 From: Yojana Gadiya <45199062+YojanaGadiya@users.noreply.github.com> Date: Thu, 31 Oct 2024 07:30:50 +0100 Subject: [PATCH] remove unnecessary files --- .../usecases/PCS/dreamwalk_data/dda/dda_1.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_2.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_3.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_4.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_5.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_6.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_7.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_8.tsv | 7939 ----------------- .../usecases/PCS/dreamwalk_data/dda/dda_9.tsv | 7939 ----------------- .../PCS/dreamwalk_data/mondo_hierarchy.tsv | 2874 ------ 10 files changed, 74325 deletions(-) delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_1.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_2.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_3.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_4.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_5.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_6.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_7.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_8.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/dda/dda_9.tsv delete mode 100644 examples/usecases/PCS/dreamwalk_data/mondo_hierarchy.tsv diff --git a/examples/usecases/PCS/dreamwalk_data/dda/dda_1.tsv b/examples/usecases/PCS/dreamwalk_data/dda/dda_1.tsv deleted file mode 100644 index 87f0ab20..00000000 --- a/examples/usecases/PCS/dreamwalk_data/dda/dda_1.tsv +++ /dev/null @@ -1,7939 +0,0 @@ -drug disease label -pubchem.compound:25267009 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-pubchem.compound:5391 UMLS:C4275012 0 -pubchem.compound:60852 UMLS:C0162770 0 -CHEMBL:CHEMBL1743087 UMLS:C0022661 0 -CHEMBL:CHEMBL1743071 UMLS:C5681601 0 -pubchem.compound:441290 UMLS:C0011195 0 -pubchem.compound:3022645 UMLS:C4016375 0 -pubchem.compound:6834 UMLS:C3808971 0 -pubchem.compound:52938427 UMLS:C4749284 0 -pubchem.compound:52911611 UMLS:C0079683 0 -pubchem.compound:104850 UMLS:C0011206 0 -pubchem.compound:3168 UMLS:C1864851 0 -pubchem.compound:5526 UMLS:C0856747 0 -pubchem.compound:62887 UMLS:C0344315 0 -pubchem.compound:92722 UMLS:C4310815 0 -pubchem.compound:5280360 UMLS:C4016274 0 -pubchem.compound:16759173 UMLS:C3810363 0 -CHEMBL:CHEMBL4650434 UMLS:C0740279 0 -pubchem.compound:2724385 UMLS:C0001125 0 -pubchem.compound:3117 UMLS:C0751436 0 -pubchem.compound:4205 UMLS:C2678477 0 -pubchem.compound:4116 UMLS:C0008043 0 -CHEMBL:CHEMBL4594341 UMLS:C0008479 0 -pubchem.compound:24749700 UMLS:C4025576 0 -CHEMBL:CHEMBL4650476 UMLS:C0038506 0 -pubchem.compound:36462 UMLS:C0338831 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-pubchem.compound:444025 UMLS:C0206062 0 -pubchem.compound:118196485 UMLS:C1855466 0 -pubchem.compound:4513 UMLS:C4310818 0 -pubchem.compound:1549120 UMLS:C0032617 0 -pubchem.compound:71621331 UMLS:C0023530 0 -pubchem.compound:49800010 UMLS:C0264774 0 -pubchem.compound:44126305 UMLS:C5700310 0 -pubchem.compound:59774 UMLS:C2316810 0 -pubchem.compound:3519 UMLS:C0022716 0 -CHEMBL:CHEMBL2108709 UMLS:C1621958 0 -pubchem.compound:11315474 UMLS:C1855457 0 -pubchem.compound:2564 UMLS:C0031069 0 -CHEMBL:CHEMBL1201421 UMLS:C1836150 0 -CHEMBL:CHEMBL4594316 UMLS:C0019189 0 -pubchem.compound:25067547 UMLS:C1847014 0 -CHEMBL:CHEMBL1981592 UMLS:C0011875 0 -CHEMBL:CHEMBL1201414 UMLS:C0238062 0 -CHEMBL:CHEMBL1743019 UMLS:C1862839 0 -pubchem.compound:5282452 UMLS:C3151066 0 -pubchem.compound:441290 UMLS:C0002938 0 -pubchem.compound:5282136 UMLS:C0279626 0 -pubchem.compound:179344 UMLS:C0025261 0 -CHEMBL:CHEMBL2108359 UMLS:C0796085 0 -pubchem.compound:45101433 UMLS:C3151187 0 -CHEMBL:CHEMBL3833346 UMLS:C0003949 0 -pubchem.compound:4543 UMLS:C4722277 0 -CHEMBL:CHEMBL2108147 UMLS:C1847014 0 -CHEMBL:CHEMBL3833307 UMLS:C1858656 0 -pubchem.compound:5709 UMLS:C4552100 0 -pubchem.compound:3038525 UMLS:C0432242 0 -pubchem.compound:59774 UMLS:C1832662 0 -pubchem.compound:156419 UMLS:C2711630 0 -pubchem.compound:2092 UMLS:C2677565 0 -pubchem.compound:11949646 UMLS:C0013720 0 -CHEMBL:CHEMBL2108738 UMLS:C0221026 0 -pubchem.compound:6100 UMLS:C0345958 0 -pubchem.compound:135398512 UMLS:C3280790 0 -pubchem.compound:5546 UMLS:C0002103 0 -CHEMBL:CHEMBL1201825 UMLS:C0007099 0 -pubchem.compound:25074887 UMLS:C0027672 0 -pubchem.compound:25025298 UMLS:C3149117 0 -pubchem.compound:2369 UMLS:C5394384 0 -pubchem.compound:9868491 UMLS:C0151878 0 -CHEMBL:CHEMBL1201831 UMLS:C1704417 0 -pubchem.compound:406563 UMLS:C2751764 0 -pubchem.compound:5353622 UMLS:C0268414 0 -CHEMBL:CHEMBL2109667 UMLS:C3809250 0 -pubchem.compound:178024 UMLS:C0153493 0 -pubchem.compound:16204922 UMLS:C1861922 0 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UMLS:C0344688 0 -pubchem.compound:444036 UMLS:C1568247 0 -pubchem.compound:446541 UMLS:C1860788 0 -CHEMBL:CHEMBL5314551 UMLS:C0003431 0 -pubchem.compound:71811910 UMLS:C0020505 0 -pubchem.compound:169870 UMLS:C1839730 0 -pubchem.compound:1349907 UMLS:C4014742 0 -pubchem.compound:104741 UMLS:C0079683 0 -pubchem.compound:9941444 UMLS:C0338831 0 -pubchem.compound:71600085 UMLS:C0409495 0 -pubchem.compound:6604100 UMLS:C3554398 0 -pubchem.compound:90410375 UMLS:C1968843 0 -pubchem.compound:2153 UMLS:C0018944 0 -pubchem.compound:5284441 UMLS:C1519086 0 -pubchem.compound:39765 UMLS:C1866173 0 -pubchem.compound:216208 UMLS:C0393770 0 -pubchem.compound:82148 UMLS:C0856747 0 -CHEMBL:CHEMBL3707325 UMLS:C5681636 0 -pubchem.compound:11519069 UMLS:C4225227 0 -pubchem.compound:51039094 UMLS:C4014869 0 diff --git a/examples/usecases/PCS/dreamwalk_data/mondo_hierarchy.tsv b/examples/usecases/PCS/dreamwalk_data/mondo_hierarchy.tsv deleted file mode 100644 index 6f825714..00000000 --- a/examples/usecases/PCS/dreamwalk_data/mondo_hierarchy.tsv +++ /dev/null @@ -1,2874 +0,0 @@ -umls mondo parent -UMLS:C4021547 disease -UMLS:C4512055 MONDO:0010066 inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0796147 MONDO:0008708 syndromic disease,human disease,disease -UMLS:C3554225 MONDO:0013992 congenital hypogonadotropic hypogonadism,hypogonadotropic hypogonadism,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C4748162 MONDO:0054860 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1839839 MONDO:0010648 bipolar II disorder,bipolar disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0037929 MONDO:0043797 vertebral column disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1848172 MONDO:0010241, MONDO:0044749, MONDO:0016293 X-linked congenital stationary night blindness,X-linked disease,hereditary disease,human disease,disease -UMLS:C0040427 disease -UMLS:C2751764 MONDO:0011458 cone-rod dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C4751168 MONDO:0016377 multiple congenital anomalies/dysmorphic syndrome-intellectual disability,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0009917 disease -UMLS:C0010495 MONDO:0009052, MONDO:0009053, MONDO:0009054, MONDO:0014706, MONDO:0013751, MONDO:0013754, MONDO:0013755, MONDO:0018163, MONDO:0007411, MONDO:0027451, MONDO:0027462, MONDO:0019571, MONDO:0013051, MONDO:0016175 autosomal recessive cutis laxa type 1,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0265338 MONDO:0015452 syndromic disease,human disease,disease -UMLS:C4016211 disease -UMLS:C1855553 MONDO:0009503 pyruvate dehydrogenase deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0036349 MONDO:0001484 schizophrenia,psychotic disorder,cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C0039446 MONDO:0001576 peripheral vascular disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0016202 MONDO:0005293 skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5679956 MONDO:0017683 homocystinuria without methylmalonic aciduria,homocystinuria,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0206663 MONDO:0005462, MONDO:0007959, MONDO:0017046 embryonal neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2752007 MONDO:0013049 congenital disorder of glycosylation type I,congenital disorder of glycosylation,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0268393 MONDO:0005620, MONDO:0018591 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1847014 MONDO:0011751 hereditary disease,human disease,disease -UMLS:C0040128 MONDO:0003240 endocrine system disorder,human disease,disease -UMLS:C0018824 MONDO:0002869 heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0003864 MONDO:0005578 bone inflammation disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0342154 MONDO:0012360, MONDO:0013757, MONDO:0009154, MONDO:0010139, MONDO:0010142, MONDO:0024264, MONDO:0010475 hypothyroidism, congenital, nongoitrous,hereditary disease,human disease,disease -UMLS:C0079745 MONDO:0018906 neoplasm of mature B-cells,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0241868 disease -UMLS:C4509024 MONDO:0007100 hereditary amyloidosis,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1853743 disease -UMLS:C0002965 MONDO:0006805 coronary artery disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0021361 MONDO:0021124 female reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C0033578 MONDO:0008315, MONDO:0021259 male reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1843920 MONDO:0018151 mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1332965 MONDO:0003130, MONDO:0017043 kidney cancer,malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4284414 MONDO:0014950 familial thoracic aortic aneurysm and aortic dissection,hereditary disease,human disease,disease -UMLS:C0020626 MONDO:0001220 parathyroid gland disorder,endocrine system disorder,human disease,disease -UMLS:C0039292 MONDO:0008783 hypolipoproteinemia,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0007134 MONDO:0005549, MONDO:0005086 renal cell carcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C5676969 MONDO:0859240 hereditary disease,human disease,disease -UMLS:C0027070 MONDO:0002380 epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0015456 MONDO:0006548 skin disorder,integumentary system disorder,human disease,disease -UMLS:C5561963 MONDO:0030537 central hypoventilation syndrome, congenital,hereditary disease,human disease,disease -UMLS:C0266491 disease -UMLS:C4013699 MONDO:0800349 familial atrial fibrillation,atrial fibrillation,cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0153107 MONDO:0001249 chlamydia trachomatis infectious disease,commensal bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0013274 MONDO:0011827 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C5436714 MONDO:0033651 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0034372 MONDO:0001590 palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0087086 MONDO:0000831 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C4021085 disease -UMLS:C3489726 MONDO:0000127, MONDO:0007055 acromelic dysplasia,skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C3279392 disease -UMLS:C4747891 MONDO:0060724 inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0235833 MONDO:0005711, MONDO:0007719 diaphragm disorder,respiratory system disorder,human disease,disease -UMLS:C0311468 MONDO:0024288 bilirubin metabolism disease,metabolic disease,human disease,disease -UMLS:C0027947 MONDO:0001475, MONDO:0001609, MONDO:0018542 agranulocytosis,leukopenia,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C2746069 MONDO:0015998 lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1868672 MONDO:0010974, MONDO:0031008 familial idiopathic steroid-resistant nephrotic syndrome,familial nephrotic syndrome,nephrotic syndrome,syndromic disease,human disease,disease -UMLS:C5779875 MONDO:0000137, MONDO:0024555 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0268059 MONDO:0009275 hereditary hemochromatosis,hemosiderosis,iron metabolism disease,mineral metabolism disease,metabolic disease,human disease,disease -UMLS:C0543888 disease -UMLS:C1136209 MONDO:0018059 meningococcal infection,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0017563 MONDO:0002021 periodontal disorder,tooth disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5391534 MONDO:0100163 viral infectious disease,infectious disease,human disease,disease -UMLS:C0029804 MONDO:0012354, MONDO:0008332, MONDO:0013622, MONDO:0013623 inherited bleeding disorder, platelet-type,hemorrhagic disease,hematologic disorder,human disease,disease -UMLS:C1860339 MONDO:0008671 Waardenburg syndrome type 2,Waardenburg syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0006625 disease -UMLS:C3711374 MONDO:0019497 hearing loss disorder,hearing disorder,auditory system disorder,human disease,disease -UMLS:C0025149 MONDO:0007959 cerebellar neoplasm,cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4021159 disease -UMLS:C0750442 MONDO:0017436 hereditary disease,human disease,disease -UMLS:C0339541 MONDO:0100288, MONDO:0100289 vitreoretinal degeneration,vitreous syneresis,vitreous disorder,vitreous body disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C4477100 disease -UMLS:C4016716 disease -UMLS:C0007370 disease -UMLS:C0035334 MONDO:0019200 inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C2062367 MONDO:0018060 coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C4085590 MONDO:0015993 inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C4551563 MONDO:0001149 disorder of development or morphogenesis,human disease,disease -UMLS:C1292772 MONDO:0004653 myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0039590 MONDO:0005447, MONDO:0021348 male reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0239946 MONDO:0005155 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0949658 MONDO:0024573 hypertrophic cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4225195 MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism,hereditary disease,human disease,disease -UMLS:C0038273 MONDO:0002265 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0019151 MONDO:0001711 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0393814 MONDO:0008087 hereditary peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4551774 MONDO:0008115, MONDO:0015267 Feingold syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0032460 MONDO:0008487 syndromic disease,human disease,disease -UMLS:C0027080 MONDO:0000866 disease -UMLS:C1850830 disease -UMLS:C0010403 MONDO:0005576 type IV hypersensitivity disease,hypersensitivity reaction disease,immune system disorder,human disease,disease -UMLS:C0206726 MONDO:0016681 brain glioblastoma,brain glioma,brain cancer,central nervous system cancer,nervous system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0151905 disease -UMLS:C0020635 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0015127, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0398794 MONDO:0018306 syndromic oculocutaneous albinism,syndromic disease,human disease,disease -UMLS:C0003126 MONDO:0010528 nasal disorder,otorhinolaryngologic disease,human disease,disease -UMLS:C4048270 disease -UMLS:C1843884 MONDO:0011834 autosomal dominant cerebellar ataxia type I,autosomal dominant cerebellar ataxia,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5680191 MONDO:0019591 combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0409495 MONDO:0008320 hereditary disease,human disease,disease -UMLS:C2315100 disease -UMLS:C0878683 MONDO:0009878 panhypopituitarism,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3899764 MONDO:0956989 EWSR1-negative small round cell tumor,small cell sarcoma,sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2677637 MONDO:0010817 autosomal dominant nonsyndromic hearing loss,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4539919 MONDO:0033282 fatal multiple mitochondrial dysfunctions syndrome,inherited lipoic acid biosynthesis defect,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0004903 MONDO:0007534, MONDO:0013038 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C1853444 MONDO:0011659, MONDO:0018677 visceral heterotaxy,syndromic disease,human disease,disease -UMLS:C0020179 MONDO:0011299, MONDO:0007739, MONDO:0011671 prion disease,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0026838 disease -UMLS:C0426870 disease -UMLS:C4552100 MONDO:0005835 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0004153 MONDO:0005311, MONDO:0002277 arteriosclerosis disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C5680502 MONDO:0015802 non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0239234 disease -UMLS:C0342276 MONDO:0018911 monogenic diabetes,diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C5436867 MONDO:0030880 hereditary disease,human disease,disease -UMLS:C1846647 MONDO:0019588 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5393309 MONDO:0017219 holoprosencephaly,syndromic disease,human disease,disease -UMLS:C3810363 MONDO:0014320 syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0003578 disease -UMLS:C3808920 MONDO:0000387, MONDO:0014094 microcytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0587246 disease -UMLS:C0021368 disease -UMLS:C0023267 MONDO:0001572 benign smooth muscle neoplasm,benign muscle neoplasm,musculoskeletal system benign neoplasm,musculoskeletal system disorder,human disease,disease -UMLS:C0155015 MONDO:0010565 color vision disorder,blindness (disorder),vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C0157916 MONDO:0011429 rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C0270685 disease -UMLS:C0001430 MONDO:0004972 epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4693784 MONDO:0054731 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C5679613 MONDO:0016281 disorder of sexual differentiation,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1836727 MONDO:0012198 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0236038 disease -UMLS:C0345967 MONDO:0006292 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0751422 MONDO:0017953 periodic fever syndrome,autoinflammatory syndrome,syndromic disease,human disease,disease -UMLS:C2063866 disease -UMLS:C0264886 MONDO:0019490, MONDO:0100042 heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C4747984 MONDO:0020840 hereditary disease,human disease,disease -UMLS:C0152427 MONDO:0011348, MONDO:0021003 polydactyly,hereditary disease,human disease,disease -UMLS:C1704380 MONDO:0001909, MONDO:0008368, MONDO:0015827 acidosis disorder,disorder of acid-base balance,metabolic disease,human disease,disease -UMLS:C4273660 MONDO:0013546 mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0749424 MONDO:0006465, MONDO:0011836 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0745103 MONDO:0005439, MONDO:0007750 familial hyperlipidemia,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0008479 MONDO:0008977 sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0206368 MONDO:0008327, MONDO:0100046 phacogenic glaucoma,glaucoma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1843156 disease -UMLS:C0334287 MONDO:0006210 hepatocellular carcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0152101 MONDO:0004933 syndromic disease,human disease,disease -UMLS:C1861537 MONDO:0007335, MONDO:0000358 orofacial cleft,hereditary disease,human disease,disease -UMLS:C0221074 MONDO:0005929 depressive disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C2673186 MONDO:0012730 familial thoracic aortic aneurysm and aortic dissection,hereditary disease,human disease,disease -UMLS:C0598798 MONDO:0005062, MONDO:0005157 lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0555198 MONDO:0021042, MONDO:0100342 neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0006287 MONDO:0019091 respiratory system disorder,human disease,disease -UMLS:C4273988 MONDO:0000160, MONDO:0019448 early myoclonic encephalopathy,neonatal period electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2675719 disease -UMLS:C2237142 disease -UMLS:C4225493 disease -UMLS:C0019050 MONDO:0100244 hemoglobinuria,proteinuria,kidney disorder,urinary system disorder,human disease,disease -UMLS:C1563709 MONDO:0018756 autoimmune disease,immune system disorder,human disease,disease -UMLS:C0010964 MONDO:0009072 cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4025019 disease -UMLS:C1832841 MONDO:0010985, MONDO:0000160 epilepsy, familial adult myoclonic,early myoclonic encephalopathy,neonatal period electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4760583 MONDO:0032791 Coffin-Siris syndrome,syndromic disease,human disease,disease -UMLS:C0280788 MONDO:0016698, MONDO:0016700 ependymal tumor,glioma,neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0019189 MONDO:0002251 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C1864851 MONDO:0012505 primary pigmented nodular adrenocortical disease,hereditary disease,human disease,disease -UMLS:C0034065 MONDO:0005279 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C5562039 MONDO:0030498 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C1368683 MONDO:0005626, MONDO:0004993 neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3266898 MONDO:0018094 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5679970 MONDO:0017685 vitamin B12-responsive methylmalonic acidemia,methylmalonic acidemia,inborn organic aciduria,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C5231424 MONDO:0032830 hereditary disease,human disease,disease -UMLS:C0020192 MONDO:0700081 primary interstitial lung disease specific to childhood,interstitial lung disease specific to childhood,interstitial lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0002895 MONDO:0011382 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1857775 MONDO:0012436 neonatal diabetes mellitus,monogenic diabetes,diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C5190608 MONDO:0013223 spondylometaphyseal dysplasia,skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C0019034 MONDO:0011382, MONDO:0016669 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0206682 MONDO:0005034 differentiated thyroid carcinoma,thyroid gland carcinoma,thyroid cancer,thyroid tumor,endocrine gland neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3463824 MONDO:0018881 myeloid hemopathy,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0019322 disease -UMLS:C0264885 disease -UMLS:C1263846 MONDO:0005302, MONDO:0007743, MONDO:0100518 attention deficit-hyperactivity disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0013080 MONDO:0008608 chromosome 21 disorder,autosomal anomaly,chromosomal disorder,human disease,disease -UMLS:C0022578 MONDO:0015486 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0751748 MONDO:0011612, MONDO:0958179 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4749272 MONDO:0009624 microcephaly and chorioretinopathy,microcephaly,disorder of development or morphogenesis,human disease,disease -UMLS:C0746102 disease -UMLS:C4551474 MONDO:0008869, MONDO:0019342 Seckel syndrome,syndromic disease,human disease,disease -UMLS:C0024790 MONDO:0100244 hemoglobinuria,proteinuria,kidney disorder,urinary system disorder,human disease,disease -UMLS:C2750246 MONDO:0012400 syndromic disease,human disease,disease -UMLS:C4329780 MONDO:0100291 T-cell acute lymphoblastic leukemia,acute lymphoblastic leukemia,precursor lymphoblastic lymphoma/leukemia,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0345904 MONDO:0002691 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C2750481 MONDO:0013190 congenital factor XIII deficiency,factor XIII deficiency,coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C3554355 MONDO:0014011 congenital non-bullous ichthyosiform erythroderma,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0234533 MONDO:0001386 visual cortex disorder,visual pathway disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0041948 MONDO:0007008 kidney failure,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0020550 MONDO:0004425 thyroid gland disorder,endocrine system disorder,human disease,disease -UMLS:C1858386 MONDO:0011458 cone-rod dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0024115 MONDO:0005275 lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C4310638 MONDO:0014999 tooth agenesis,hereditary disease,human disease,disease -UMLS:C1134719 MONDO:0005590, MONDO:0004953 breast adenocarcinoma,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C0521573 MONDO:0020357 coloboma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0260662 MONDO:0021945 auditory system disorder,human disease,disease -UMLS:C5191640 MONDO:0013992 congenital hypogonadotropic hypogonadism,hypogonadotropic hypogonadism,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1849699 MONDO:0009909 hereditary disease,human disease,disease -UMLS:C0020295 MONDO:0005510 urinary tract obstruction,urinary system disorder,human disease,disease -UMLS:C4021133 MONDO:0018901 intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1847614 MONDO:0000724, MONDO:0011710 language disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0023903 MONDO:0002691 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C1852372 MONDO:0015448, MONDO:0007415 mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C2981150 MONDO:0007336, MONDO:0016064 cleft palate,orofacial cleft,hereditary disease,human disease,disease -UMLS:C1332219 MONDO:0019004, MONDO:0024675 kidney cancer,malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0265202 MONDO:0019342 syndromic disease,human disease,disease -UMLS:C3489789 MONDO:0011156, MONDO:0011559 benign recurrent intrahepatic cholestasis type 2,benign recurrent intrahepatic cholestasis,familial intrahepatic cholestasis,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0432198 MONDO:0010024 Jeune syndrome,ciliopathy,hereditary disease,human disease,disease -UMLS:C3887506 disease -UMLS:C0266551 MONDO:0020356 coloboma, ocular, autosomal dominant,coloboma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1837404 disease -UMLS:C0010308 MONDO:0012360, MONDO:0013757, MONDO:0009154, MONDO:0010139, MONDO:0010142, MONDO:0018612, MONDO:0024264, MONDO:0010475 hypothyroidism, congenital, nongoitrous,hereditary disease,human disease,disease -UMLS:C0027404 MONDO:0019371, MONDO:0021107 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0042138 MONDO:0002715, MONDO:0021353 female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0001621 MONDO:0005495 endocrine system disorder,human disease,disease -UMLS:C0751529 MONDO:0000723 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0265004 disease -UMLS:C0265914 MONDO:0020295 congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0006261 MONDO:0001358 lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C1335167 MONDO:0005601 ovarian adenocarcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1836447 MONDO:0012240 typical nemaline myopathy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0749420 MONDO:0012360, MONDO:0013757, MONDO:0009154, MONDO:0010139, MONDO:0010142, MONDO:0024264, MONDO:0019855, MONDO:0010475 hypothyroidism, congenital, nongoitrous,hereditary disease,human disease,disease -UMLS:C0079772 MONDO:0015760 non-Hodgkin lymphoma,lymphoma,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1843244 disease -UMLS:C2752015 MONDO:0013968 congenital disorder of glycosylation type I,congenital disorder of glycosylation,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0020505 disease -UMLS:C0344432 MONDO:0020575 ventricular tachycardia,cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0008519 disease -UMLS:C0151744 MONDO:0005010, MONDO:0024644 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0242422 MONDO:0021095 basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0243026 MONDO:0005229 bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0334401 MONDO:0006036, MONDO:0020541 endocrine gland neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0009952 disease -UMLS:C0027697 MONDO:0001166 kidney disorder,urinary system disorder,human disease,disease -UMLS:C1868120 MONDO:0019674 postaxial polydactyly,non-syndromic polydactyly,polydactyly,hereditary disease,human disease,disease -UMLS:C2931218 MONDO:0010110 hereditary disease,human disease,disease -UMLS:C5676982 MONDO:0859248 corneal dystrophy,corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0270612 disease -UMLS:C1861866 disease -UMLS:C0221026 MONDO:0010421, MONDO:0021094 isolated agammaglobulinemia,agammaglobulinemia,B cell deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0752127 MONDO:0005385 cardiovascular disorder,human disease,disease -UMLS:C0158442 MONDO:0005380 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0221480 disease -UMLS:C0001306 MONDO:0001505 hepatitis,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C4693912 MONDO:0054817 leukodystrophy,inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3463897 MONDO:0006248, MONDO:0009273 trophoblastic neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0220993 MONDO:0009058 inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1863732 MONDO:0011335 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4275179 MONDO:0017279 Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0424605 disease -UMLS:C1838979 MONDO:0100133, MONDO:0100223, MONDO:0100224 mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1836542 disease -UMLS:C0036330 MONDO:0008412, MONDO:0044345 schistosomiasis,helminthiasis,parasitic infectious disease,infectious disease,human disease,disease -UMLS:C0699790 MONDO:0002032 malignant colon neoplasm,colonic neoplasm,colonic disorder,large intestine disorder,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0152031 disease -UMLS:C5679682 MONDO:0016863 Duane-radial ray syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0019693 MONDO:0005109 viral sexually transmitted disease,sexually transmitted disease,reproductive system disorder,human disease,disease -UMLS:C5554234 MONDO:0016418 multiple system atrophy,synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0041295 MONDO:0018076, MONDO:0021943 primary bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0543669 MONDO:0008092 hereditary disease,human disease,disease -UMLS:C0752282 MONDO:0002921 congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0040715 disease -UMLS:C0206639 MONDO:0009807 sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1842534 MONDO:0012805 GLUT1 deficiency syndrome,metabolic epilepsy,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2750413 MONDO:0012240 typical nemaline myopathy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1849348 MONDO:0009998 multiple congenital anomalies/dysmorphic syndrome without intellectual disability,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C1839840 MONDO:0013664 46,XY complete gonadal dysgenesis,gonadal dysgenesis,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0015923 MONDO:0000408, MONDO:0016011 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4551721 MONDO:0009300, MONDO:0017312 Perrault syndrome,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C3150343 MONDO:0009340 familial hemolytic anemia,hemolytic anemia,normocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0024530 MONDO:0005136 protozoa infectious disease,parasitic infectious disease,infectious disease,human disease,disease -UMLS:C0155626 MONDO:0004781, MONDO:0005068 myocardial infarction,myocardial disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C2931662 MONDO:0009626 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1867971 disease -UMLS:C0040053 MONDO:0000831 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0751316 MONDO:0019773 spina bifida cystica,isolated spina bifida,spina bifida,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4085597 MONDO:0014609 multiple congenital anomalies/dysmorphic syndrome-intellectual disability,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0497552 MONDO:0002320, MONDO:0020022 nervous system disorder,human disease,disease -UMLS:C0006142 MONDO:0007254, MONDO:0021100, MONDO:0016419 thoracic cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4023252 disease -UMLS:C2874188 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0004096 MONDO:0004979 bronchial disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C3150705 MONDO:0013270, MONDO:0035383 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0334389 MONDO:0004972 epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0340643 disease -UMLS:C0019196 MONDO:0005231 viral hepatitis,hepatitis,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0338575 MONDO:0002695 intracranial sinus thrombosis,intracranial thrombosis,thrombotic disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0281361 MONDO:0006047 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0007194 MONDO:0005045 intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0010054 MONDO:0005010, MONDO:0021661 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0029531 MONDO:0005129 lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C4016274 disease -UMLS:C4273747 MONDO:0013099 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1305122 MONDO:0005160 aortic disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C4023408 disease -UMLS:C0428851 disease -UMLS:C0266484 MONDO:0010011 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1257877 MONDO:0008233, MONDO:0000550 hereditary pheochromocytoma-paraganglioma,adrenal gland disorder,endocrine system disorder,human disease,disease -UMLS:C0494475 MONDO:0001386 visual cortex disorder,visual pathway disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0013146 MONDO:0002491, MONDO:0002494 substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0376618 disease -UMLS:C1334698 MONDO:0016642, MONDO:0850303 tumor of meninges,central nervous system neoplasm,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0030312 MONDO:0001529 anemia,hematologic disorder,human disease,disease -UMLS:C0038354 MONDO:0004298 digestive system disorder,human disease,disease -UMLS:C3150208 MONDO:0800348 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0424688 disease -UMLS:C0728829 disease -UMLS:C4551804 MONDO:0011001, MONDO:0015263 Brugada syndrome,heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C4316903 MONDO:0001386 visual cortex disorder,visual pathway disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5193002 MONDO:0800200 distal arthrogryposis,hereditary disease,human disease,disease -UMLS:C0393541 MONDO:0001516, MONDO:0018894 anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0039239 disease -UMLS:C0040433 disease -UMLS:C0685889 MONDO:0010066 inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0424503 disease -UMLS:C0752323 MONDO:0006891 focal epilepsy,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0678222 MONDO:0004989, MONDO:0021100 carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4011403 MONDO:0007094 amelogenesis imperfecta type 1,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C2931135 disease -UMLS:C0023487 MONDO:0012883 acute myeloid leukemia,myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0023530 MONDO:0003785 leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0265354 MONDO:0008965 syndromic disease,human disease,disease -UMLS:C0034362 MONDO:0019186 primary bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C1832466 MONDO:0011038 autosomal dominant optic atrophy plus syndrome,autosomal dominant optic atrophy,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0403823 disease -UMLS:C0240635 disease -UMLS:C0345447 disease -UMLS:C0151904 disease -UMLS:C3150417 MONDO:0013161 muscular dystrophy-dystroglycanopathy, type C,muscular dystrophy-dystroglycanopathy,congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0021359 MONDO:0005047 reproductive system disorder,human disease,disease -UMLS:C5436727 MONDO:0033656 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0149931 MONDO:0005277 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1846038 MONDO:0010289 non-syndromic X-linked intellectual disability,non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4750849 MONDO:0018273 multiple congenital anomalies/dysmorphic syndrome-intellectual disability,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0086439 disease -UMLS:C0011875 MONDO:0000960 peripheral vascular disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C1857811 MONDO:0012420 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4721845 MONDO:0007947 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0751383 MONDO:0008767, MONDO:0008768, MONDO:0008769, MONDO:0009744, MONDO:0009745, MONDO:0011144, MONDO:0012188, MONDO:0012391, MONDO:0012414, MONDO:0012588, MONDO:0008083, MONDO:0013866, MONDO:0019262, MONDO:0014147, MONDO:0016295, MONDO:0010830 juvenile neuronal ceroid lipofuscinosis,neuronal ceroid lipofuscinosis,lysosomal lipid storage disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0153460 MONDO:0009831 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0282193 disease -UMLS:C4021790 disease -UMLS:C0018799 MONDO:0005267 cardiovascular disorder,human disease,disease -UMLS:C0001925 disease -UMLS:C1836694 MONDO:0000211 striatonigral degeneration,multiple system atrophy,synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4225429 MONDO:0007522 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1835807 disease -UMLS:C1833053 MONDO:0010961 congenital hypogonadotropic hypogonadism,hypogonadotropic hypogonadism,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C4025360 disease -UMLS:C0003469 MONDO:0005618 mental disorder,psychiatric disorder,human disease,disease -UMLS:C3280415 MONDO:0013680 hereditary disease,human disease,disease -UMLS:C3280479 MONDO:0013690 hereditary disease,human disease,disease -UMLS:C0752130 MONDO:0005385, MONDO:0020688 cardiovascular disorder,human disease,disease -UMLS:C2931383 MONDO:0000141 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0345958 MONDO:0003050 large cell carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0342684 MONDO:0021019 ocular albinism,disorder of melanin metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0086664 MONDO:0019773 spina bifida cystica,isolated spina bifida,spina bifida,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2677565 MONDO:0012790 familial amyotrophic lateral sclerosis,amyotrophic lateral sclerosis,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0006663 MONDO:0002123 calcium metabolic disease,mineral metabolism disease,metabolic disease,human disease,disease -UMLS:C4551966 MONDO:0011724, MONDO:0000188 GLUT1 deficiency syndrome,metabolic epilepsy,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1835826 MONDO:0012561, MONDO:0019719 congenital anomaly of kidney and urinary tract,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0014556 MONDO:0005115 familial partial epilepsy,focal epilepsy,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0271183 disease -UMLS:C1847319 MONDO:0011740 multiple polyglandular tumor,polyendocrinopathy,endocrine system disorder,human disease,disease -UMLS:C0038644 disease -UMLS:C4302893 MONDO:0019375 hydrocephalus,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1842581 disease -UMLS:C2676770 MONDO:0012856 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0001125 MONDO:0006040, MONDO:0024306 metabolic disease,human disease,disease -UMLS:C0086543 MONDO:0005129 lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1960469 MONDO:0018901 intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5676998 MONDO:0859256 neurodevelopmental disorder,nervous system disorder,human disease,disease -UMLS:C4277690 MONDO:0005308 hereditary disease,human disease,disease -UMLS:C5676881 MONDO:0024772 X-linked syndromic intellectual disability,syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0039685 MONDO:0008542 congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C5191058 MONDO:0013082 syndromic disease,human disease,disease -UMLS:C0268397 MONDO:0015301, MONDO:0018856 amyloidosis,proteostasis deficiencies,metabolic disease,human disease,disease -UMLS:C0002514 MONDO:0004736 inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0575897 MONDO:0008561 hereditary disease,human disease,disease -UMLS:C3277074 disease -UMLS:C1458155 MONDO:0021100 breast disorder,human disease,disease -UMLS:C0701163 MONDO:0018479 steroid inherited metabolic disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C5436818 MONDO:0030844 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C0020217 MONDO:0006248, MONDO:0018944 trophoblastic neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0038506 MONDO:0000723 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0375489 MONDO:0019288 skin disorder,integumentary system disorder,human disease,disease -UMLS:C4016819 MONDO:0100156 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0340804 MONDO:0012354, MONDO:0008332, MONDO:0013622, MONDO:0013623 inherited bleeding disorder, platelet-type,hemorrhagic disease,hematologic disorder,human disease,disease -UMLS:C5681528 MONDO:0035774 Mendelian neurodevelopmental disorder,hereditary neurological disease,hereditary disease,human disease,disease -UMLS:C0023418 MONDO:0005059 hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0157946 MONDO:0005178 arthritic joint disease,bone inflammation disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0796085 MONDO:0010545 hereditary disease,human disease,disease -UMLS:C1839730 MONDO:0010667 X-linked syndromic intellectual disability,syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0342687 MONDO:0009123 disorder of catecholamine synthesis,inborn disorder of neurotransmitter metabolism and transport,inborn disorder of biogenic amine metabolism and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1835854 MONDO:0012485 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5436552 MONDO:0033556 muscular dystrophy-dystroglycanopathy, type B,muscular dystrophy-dystroglycanopathy,congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4021533 disease -UMLS:C0857501 disease -UMLS:C0029512 MONDO:0000706, MONDO:0000707 colitis,gastroenteritis,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0032197 MONDO:0008495, MONDO:0016630 syndromic constitutional thrombocytopenia,inherited thrombocytopenia,thrombocytopenia,blood platelet disease,hematologic disorder,human disease,disease -UMLS:C0023434 MONDO:0004948 chronic leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0270834 disease -UMLS:C3160718 MONDO:0008199, MONDO:0005180 Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4016279 disease -UMLS:C3552303 disease -UMLS:C0339526 disease -UMLS:C0270912 MONDO:0007307, MONDO:0015626 Charcot-Marie-Tooth disease dominant intermediate D,autosomal dominant intermediate Charcot-Marie-Tooth disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0346153 MONDO:0016419 hereditary disease,human disease,disease -UMLS:C1848552 MONDO:0010185 methylmalonic aciduria and homocystinuria,methylmalonic acidemia,inborn organic aciduria,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0021841 MONDO:0005814, MONDO:0021118 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0013595 MONDO:0004980 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0478066 MONDO:0017436 hereditary disease,human disease,disease -UMLS:C4023106 disease -UMLS:C0221357 MONDO:0021004 hereditary disease,human disease,disease -UMLS:C0012243 MONDO:0002516 digestive system disorder,human disease,disease -UMLS:C0206624 MONDO:0018666 embryonal neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3151471 disease -UMLS:C0079744 MONDO:0018905 neoplasm of mature B-cells,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0265275 MONDO:0018770 ciliopathy,hereditary disease,human disease,disease -UMLS:C4510367 MONDO:0012436 neonatal diabetes mellitus,monogenic diabetes,diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0238441 disease -UMLS:C4049796 disease -UMLS:C1866091 disease -UMLS:C5680452 MONDO:0015736 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0752105 MONDO:0000828, MONDO:0021095 young-onset Parkinson disease,Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0015310 MONDO:0001286 strabismus,ocular motility disease,cranial nerve neuropathy,nervous system disorder,human disease,disease -UMLS:C3151059 MONDO:0013405 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0042594 MONDO:0002643 inner ear disorder,auditory system disorder,human disease,disease -UMLS:C0024314 MONDO:0011804, MONDO:0016537, MONDO:0014054, MONDO:0013081 autoimmune lymphoproliferative syndrome,type IV hypersensitivity disease,hypersensitivity reaction disease,immune system disorder,human disease,disease -UMLS:C3279657 MONDO:0013535 hereditary disease,human disease,disease -UMLS:C0003723 MONDO:0005108, MONDO:0020731 infectious disease,human disease,disease -UMLS:C1276035 MONDO:0008824, MONDO:0100101 syndromic disease,human disease,disease -UMLS:C0020459 MONDO:0002177 endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0455988 MONDO:0015193, MONDO:0009369 developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C1560305 disease -UMLS:C3553661 MONDO:0013886 autosomal dominant cerebellar ataxia type I,autosomal dominant cerebellar ataxia,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C3887898 disease -UMLS:C4021760 disease -UMLS:C2750850 MONDO:0024498, MONDO:0100242 glioma susceptibility,hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C2675186 MONDO:0012990 Leber congenital amaurosis,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0018843 disease -UMLS:C0524851 MONDO:0005559 central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4014578 MONDO:0014385 amelogenesis imperfecta type 2,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C1843139 MONDO:0031446, MONDO:0100327 hypercholanemia, familial,inborn disorder of bile acid synthesis,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0038454 MONDO:0005098 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0015695 MONDO:0004790 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0752109 disease -UMLS:C3276096 MONDO:0007173 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1839832 disease -UMLS:C0242342 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0019618, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2239176 MONDO:0007256 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0006868 MONDO:0005689 drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0079154 MONDO:0011026, MONDO:0011485, MONDO:0011680, MONDO:0013495, MONDO:0017778, MONDO:0009439, MONDO:0009441, MONDO:0019306, MONDO:0012847, MONDO:0017265, MONDO:0014009, MONDO:0014010, MONDO:0014011 autosomal recessive congenital ichthyosis,inherited ichthyosis,ichthyosis,epidermal disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3890737 MONDO:0019751 syndromic disease,human disease,disease -UMLS:C0233477 disease -UMLS:C0270549 MONDO:0001942 anxiety disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5569048 MONDO:0014518 inherited bleeding disorder, platelet-type,hemorrhagic disease,hematologic disorder,human disease,disease -UMLS:C0278883 MONDO:0005191 melanoma,melanocytic neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1862511 MONDO:0007152, MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0476273 disease -UMLS:C4703449 disease -UMLS:C0036421 MONDO:0005100 skin disorder,integumentary system disorder,human disease,disease -UMLS:C0001126 MONDO:0001909 acidosis disorder,disorder of acid-base balance,metabolic disease,human disease,disease -UMLS:C5542154 MONDO:0020745 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0037772 MONDO:0003757 palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4748827 MONDO:0032632 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0272315 MONDO:0002242 blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C3808377 MONDO:0013411 early-onset zonular cataract,early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C2931132 MONDO:0011725 Crigler-Najjar syndrome,syndromic disease,human disease,disease -UMLS:C5435656 MONDO:0700250, MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C2751898 MONDO:0011376, MONDO:0100234 paroxysmal familial ventricular fibrillation,ventricular fibrillation,cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1859727 MONDO:0018870 hereditary disease,human disease,disease -UMLS:C4707228 MONDO:0017893 acute myeloid leukemia,myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0752210 MONDO:0001595, MONDO:0015427 movement disorder,nervous system disorder,human disease,disease -UMLS:C4024853 disease -UMLS:C5436799 MONDO:0033673 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C0003706 disease -UMLS:C0398562 MONDO:0014221 glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C3280524 MONDO:0800358 schizophrenia,psychotic disorder,cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C3280094 MONDO:0013616 primary pigmented nodular adrenocortical disease,hereditary disease,human disease,disease -UMLS:C0002395 MONDO:0011194, MONDO:0011401, MONDO:0011561, MONDO:0011647, MONDO:0011777, MONDO:0012321, MONDO:0012344, MONDO:0012609, MONDO:0012630, MONDO:0012631, MONDO:0004975, MONDO:0007089 early-onset autosomal dominant Alzheimer disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0007789 MONDO:0006497 palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4016375 disease -UMLS:C0149871 disease -UMLS:C3837967 disease -UMLS:C0948089 MONDO:0005542 syndromic disease,human disease,disease -UMLS:C1859778 disease -UMLS:C0086132 disease -UMLS:C4693367 MONDO:0033367 developmental and epileptic encephalopathy,epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1334655 MONDO:0021067 extragonadal germ cell tumor,germ cell tumor,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0271097 MONDO:0019501, MONDO:0016484, MONDO:0016485 syndromic disease,human disease,disease -UMLS:C0175702 MONDO:0008678 syndromic disease,human disease,disease -UMLS:C0010278 MONDO:0015469 synostosis,dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5231402 MONDO:0032803 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0041657 disease -UMLS:C0393571 MONDO:0007803 synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0472813 MONDO:0018967, MONDO:0010615 congenital agammaglobulinemia,congenital hematological disorder,hematologic disorder,human disease,disease -UMLS:C1837206 MONDO:0012143 syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5680365 MONDO:0035524 blepharophimosis, ptosis, and epicanthus inversus syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1456865 disease -UMLS:C0026010 MONDO:0021129 eye disorder,disorder of orbital region,human disease,disease -UMLS:C5681601 MONDO:0035734 hereditary angioedema,angioedema,urticaria,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C4275067 MONDO:0019441 familial restrictive cardiomyopathy,restrictive cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5774300 MONDO:0859363 hereditary spastic paraplegia,paraplegia,palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1835814 MONDO:0012569 familial mitral valve prolapse,mitral valve prolapse,mitral valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C5567789 MONDO:0018780 syndromic disease,human disease,disease -UMLS:C1836451 disease -UMLS:C3554398 MONDO:0014025 proximal spinal muscular atrophy,spinal muscular atrophy,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5394081 MONDO:0032918 developmental and epileptic encephalopathy,epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1865866 disease -UMLS:C0021655 disease -UMLS:C3553450 disease -UMLS:C0678230 disease -UMLS:C0004509 MONDO:0100459 male infertility,male reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C3840252 disease -UMLS:C0268119 MONDO:0020480 inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4304832 MONDO:0015999 hereditary disease,human disease,disease -UMLS:C5680181 MONDO:0019502 non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0032226 MONDO:0002037 lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0752351 disease -UMLS:C5437588 MONDO:0035521 partial deletion of chromosome 3,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C4225421 MONDO:0010494 linear skin defects with multiple congenital anomalies,syndromic microphthalmia,syndromic disease,human disease,disease -UMLS:C0019163 MONDO:0005344 Hepadnaviridae infectious disease,primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C1337013 MONDO:0015447 thyroid gland carcinoma,thyroid cancer,thyroid tumor,endocrine gland neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0042963 disease -UMLS:C0334265 MONDO:0006474, MONDO:0037254 carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0011603 MONDO:0002406 skin disorder,integumentary system disorder,human disease,disease -UMLS:C0856747 disease -UMLS:C0796070 MONDO:0024552, MONDO:0010672 linear skin defects with multiple congenital anomalies,syndromic microphthalmia,syndromic disease,human disease,disease -UMLS:C4551488 MONDO:0008637 cleft palate,orofacial cleft,hereditary disease,human disease,disease -UMLS:C1836916 MONDO:0012177 FLVCR1-related retinopathy with or without ataxia,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C5680343 MONDO:0020298 Prader-Willi syndrome,syndromic disease,human disease,disease -UMLS:C1843386 disease -UMLS:C0016059 disease -UMLS:C0238052 MONDO:0008948 xanthomatosis,lysosomal lipid storage disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0042384 MONDO:0018882 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0399373 disease -UMLS:C1845070 MONDO:0010388 rolandic epilepsy-speech dyspraxia syndrome,childhood-onset epilepsy syndrome,epilepsy syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0006309 MONDO:0005683 primary bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C5193014 MONDO:0020820 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C3151187 MONDO:0013443 Seckel syndrome,syndromic disease,human disease,disease -UMLS:C0030193 disease -UMLS:C0392550 MONDO:0001170 palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2937358 MONDO:0013792 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1858674 MONDO:0011891 febrile seizures, familial,hereditary disease,human disease,disease -UMLS:C0007766 MONDO:0005291 cerebral arterial disease,intracranial arterial disease,cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0013423 MONDO:0007492, MONDO:0007493, MONDO:0007495, MONDO:0011264, MONDO:0011886, MONDO:0008044, MONDO:0014627, MONDO:0013813, MONDO:0009141, MONDO:0000476, MONDO:0014033, MONDO:0044811, MONDO:0044843, MONDO:0012895, MONDO:0010747 early-onset generalized dystonia,generalized dystonia,isolated dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0023896 MONDO:0043693 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C2936419 MONDO:0100249 46,XX disorder of sex development,disorder of sexual differentiation,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1321551 MONDO:0008426 multiple congenital anomalies/dysmorphic syndrome-intellectual disability,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C1860788 disease -UMLS:C0008312 MONDO:0005388 biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0003460 MONDO:0002476 kidney disorder,urinary system disorder,human disease,disease -UMLS:C0279626 MONDO:0005580 squamous cell carcinoma,squamous cell neoplasm,epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0151889 MONDO:0007774 hereditary disease,human disease,disease -UMLS:C0752166 MONDO:0015229 syndromic disease,human disease,disease -UMLS:C0399352 MONDO:0008797, MONDO:0005486 hereditary disease,human disease,disease -UMLS:C4275012 MONDO:0010239 classic lissencephaly,lissencephaly spectrum disorders,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1955870 MONDO:0013415 chromosome 17p deletion,partial deletion of chromosome 17,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C0007820 MONDO:0011057 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0085548 MONDO:0009889, MONDO:0033004 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C2673700 disease -UMLS:C3495498 MONDO:0008647, MONDO:0024573 familial hypertrophic cardiomyopathy,hypertrophic cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0687132 disease -UMLS:C0027055 disease -UMLS:C0023014 disease -UMLS:C0035243 MONDO:0024355 respiratory system disorder,human disease,disease -UMLS:C0393588 MONDO:0016058 combined dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0005398 MONDO:0006757 cholestasis,bile duct disorder,biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C5680508 MONDO:0015784 Prader-Willi syndrome due to paternal 15q11q13 deletion,Prader-Willi syndrome,syndromic disease,human disease,disease -UMLS:C3553886 MONDO:0013923 autosomal recessive primary microcephaly,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1864849 MONDO:0012507 cone dystrophy,hereditary macular dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C1848954 MONDO:0000476 isolated dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0005967 MONDO:0002129, MONDO:0019060 musculoskeletal system cancer,musculoskeletal system disorder,human disease,disease -UMLS:C0220668 MONDO:0007363 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5779549 MONDO:0019588 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0270496 disease -UMLS:C5193097 MONDO:0032750 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0740302 MONDO:0007925, MONDO:0016904 macrocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C2677903 MONDO:0010417 central nervous system malformation,nervous system disorder,human disease,disease -UMLS:C0344724 MONDO:0006664, MONDO:0020434 heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0030305 MONDO:0004982 pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0019372 MONDO:0005794 primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C0154631 MONDO:0001697 learning disability,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0029445 MONDO:0005380 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0005122 MONDO:0006676, MONDO:0024182 vitamin B deficiency,vitamin deficiency disorder,nutritional deficiency disease,nutritional disorder,human disease,disease -UMLS:C0042165 MONDO:0006651 uveitis,uveal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0025294 MONDO:0018059 meningococcal infection,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0239548 disease -UMLS:C0265998 MONDO:0008798, MONDO:0019211 isolated congenital anonychia,inherited isolated nail anomaly,nail disorder,integumentary system disorder,human disease,disease -UMLS:C0027661 disease -UMLS:C0341698 disease -UMLS:C1839928 MONDO:0011119, MONDO:0024456, MONDO:0010633 anterior segment dysgenesis,hereditary disease,human disease,disease -UMLS:C3714927 MONDO:0020715 inherited disease susceptibility,disease susceptibility -UMLS:C0796195 MONDO:0010709 X-linked syndromic intellectual disability,syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0155862 MONDO:0005972 bacterial pneumonia,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C1704429 MONDO:0017773 metabolic disease,human disease,disease -UMLS:C0085584 MONDO:0005560 central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4310715 MONDO:0014918 hereditary disease,human disease,disease -UMLS:C1623209 MONDO:0007473, MONDO:0011812 syndromic disease,human disease,disease -UMLS:C0878676 MONDO:0009863 hyperphenylalaninemia due to tetrahydrobiopterin deficiency,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C3502809 MONDO:0018214 epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4021808 disease -UMLS:C3541518 MONDO:0007514 hereditary disease,human disease,disease -UMLS:C0339143 MONDO:0018756 autoimmune disease,immune system disorder,human disease,disease -UMLS:C1865304 disease -UMLS:C1853118 MONDO:0018542 hereditary disease,human disease,disease -UMLS:C4022839 disease -UMLS:C0433856 disease -UMLS:C0432217 MONDO:0009192 syndromic disease,human disease,disease -UMLS:C4225330 MONDO:0014635 microphthalmia, isolated, with coloboma,isolated microphthalmia,hereditary disease,human disease,disease -UMLS:C0017181 MONDO:0004242 peptic ulcer disease,digestive system disorder,human disease,disease -UMLS:C0036529 MONDO:0004994 muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0157721 MONDO:0018746 autoimmune bullous skin disease,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0857007 disease -UMLS:C5679590 disease -UMLS:C0264490 MONDO:0001208, MONDO:0021113 acute disease,human disease,disease -UMLS:C4510897 MONDO:0017136 skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C1510502 MONDO:0003424, MONDO:0010795 adenoma,epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1851286 MONDO:0007514, MONDO:0015998 hereditary disease,human disease,disease -UMLS:C0344529 MONDO:0000733 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1527168 MONDO:0019499, MONDO:0100492 gonadal dysgenesis,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1836996 disease -UMLS:C3554224 MONDO:0013991 congenital hypogonadotropic hypogonadism,hypogonadotropic hypogonadism,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1514422 MONDO:0018177, MONDO:0850335 high grade astrocytic tumor,astrocytic tumor,glioma,neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0751038 MONDO:0019570, MONDO:0016006 Cockayne syndrome,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0524662 MONDO:0005530 drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0400966 MONDO:0013209 fatty liver disease,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C4274995 MONDO:0019450 lissencephaly spectrum disorders,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0426817 disease -UMLS:C0149649 MONDO:0005568 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0265333 MONDO:0008592 skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C0342473 disease -UMLS:C0238463 MONDO:0005075 papillary adenocarcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0015530 MONDO:0002241, MONDO:0018029 coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C0013369 MONDO:0001517, MONDO:0001673 inflammatory diarrhea,gastrointestinal mucositis,digestive system disorder,human disease,disease -UMLS:C5676966 MONDO:0030736 46 XX gonadal dysgenesis,gonadal dysgenesis,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C5681191 MONDO:0018611 cataract 16 multiple types,early-onset zonular cataract,early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0039841 MONDO:0006676 vitamin B deficiency,vitamin deficiency disorder,nutritional deficiency disease,nutritional disorder,human disease,disease -UMLS:C1868681 MONDO:0007496 combined dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0221043 MONDO:0008323, MONDO:0020607 syndromic disease,human disease,disease -UMLS:C0154088 MONDO:0006234 in situ carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0020757 MONDO:0019269 epidermal disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C1968843 MONDO:0012709 microphthalmia, isolated, with coloboma,isolated microphthalmia,hereditary disease,human disease,disease -UMLS:C0221355 MONDO:0016608, MONDO:0017089 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0036202 MONDO:0008399, MONDO:0019338 inherited disease susceptibility,disease susceptibility -UMLS:C0155020 MONDO:0001941 vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C2932714 MONDO:0016759 bulbospinal muscular atrophy,spinal muscular atrophy,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5554235 MONDO:0020352 multiple system atrophy,synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0026837 disease -UMLS:C1837658 disease -UMLS:C4511004 MONDO:0000211 striatonigral degeneration,multiple system atrophy,synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0007099 MONDO:0004647 carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0008313 MONDO:0018646 cholangitis,non-neoplastic bile duct disorder,bile duct disorder,biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C1387923 MONDO:0017436 hereditary disease,human disease,disease -UMLS:C0206644 MONDO:0002989 histiocytoma,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1849394 MONDO:0100288 vitreoretinal degeneration,vitreous syneresis,vitreous disorder,vitreous body disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0375359 MONDO:0005101 colitis,gastroenteritis,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0014553 MONDO:0850093, MONDO:0010826 electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0042133 MONDO:0001572, MONDO:0007886 benign smooth muscle neoplasm,benign muscle neoplasm,musculoskeletal system benign neoplasm,musculoskeletal system disorder,human disease,disease -UMLS:C0342151 MONDO:0012360, MONDO:0013757, MONDO:0009154, MONDO:0010139, MONDO:0010142, MONDO:0024264, MONDO:0010475 hypothyroidism, congenital, nongoitrous,hereditary disease,human disease,disease -UMLS:C0003872 MONDO:0011849 syndromic disease,human disease,disease -UMLS:C0034933 MONDO:0007774 hereditary disease,human disease,disease -UMLS:C2936694 MONDO:0010765 gonadal dysgenesis,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1541923 MONDO:0005025, MONDO:0000565 endocardium disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C5444223 MONDO:0859156 dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4310796 MONDO:0014831 hereditary disorder of connective tissue,hereditary disease,human disease,disease -UMLS:C4748579 MONDO:0032586 congenital diarrhea,diarrheal disease,digestive system disorder,human disease,disease -UMLS:C1859372 MONDO:0008895 hereditary disease,human disease,disease -UMLS:C1853833 MONDO:0011613 young-onset Parkinson disease,Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3808971 MONDO:0014102 Kallmann syndrome,syndromic disease,human disease,disease -UMLS:C0007398 MONDO:0800105 psychiatric disorder,human disease,disease -UMLS:C0085547 MONDO:0009861, MONDO:0016366 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0152419 MONDO:0009010, MONDO:0016581 congenital anomaly of the great arteries,congenital heart malformation,congenital anomaly of cardiovascular system,cardiovascular disorder,human disease,disease -UMLS:C5700127 MONDO:0007646 syndromic disease,human disease,disease -UMLS:C4016264 disease -UMLS:C0001080 MONDO:0007037 osteochondrodysplasia,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5681199 MONDO:0018643 inherited disease susceptibility,disease susceptibility -UMLS:C0007140 MONDO:0002928 malignant mixed neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1838659 disease -UMLS:C0018817 MONDO:0011938, MONDO:0013567, MONDO:0006664, MONDO:0013750, MONDO:0013770, MONDO:0012654, MONDO:0007172, MONDO:0007173, MONDO:0013011, MONDO:0013123 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0031485 MONDO:0009861 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5394226 MONDO:0030004 autism, susceptiblity to,inherited disease susceptibility,disease susceptibility -UMLS:C0020672 disease -UMLS:C0162823 MONDO:0006564 contact dermatitis,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0043345 MONDO:0019269 epidermal disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C4014648 MONDO:0014395 familial amyotrophic lateral sclerosis,amyotrophic lateral sclerosis,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1861689 MONDO:0001029, MONDO:0007306 musculoskeletal system disorder,human disease,disease -UMLS:C1269683 MONDO:0002009 depressive disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0271385 MONDO:0004843 ocular motility disease,cranial nerve neuropathy,nervous system disorder,human disease,disease -UMLS:C0271093 MONDO:0019353 age-related macular degeneration,degeneration of macula and posterior pole,macular degeneration,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0004045 MONDO:0006663 respiratory system disorder,human disease,disease -UMLS:C1292774 MONDO:0015166, MONDO:0850492 acute myeloid leukemia,myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4305002 MONDO:0010172 syndromic disease,human disease,disease -UMLS:C1856019 disease -UMLS:C0221757 MONDO:0013282 syndromic disease,human disease,disease -UMLS:C0268146 MONDO:0009288 constitutional neutropenia,neutropenia,agranulocytosis,leukopenia,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C2677180 disease -UMLS:C3151139 MONDO:0013437 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0265581 MONDO:0019671 hemimelia,dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1527338 MONDO:0005620, MONDO:0007098 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0206655 MONDO:0009994 rhabdomyosarcoma,soft tissue sarcoma,sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2317073 disease -UMLS:C0003496 disease -UMLS:C0268487 MONDO:0004741, MONDO:0010160 disorder of tyrosine metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0271577 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1833683 MONDO:0957318 nephrolithiasis,kidney disorder,urinary system disorder,human disease,disease -UMLS:C4225303 MONDO:0014670 lethal congenital contracture syndrome,hereditary disease,human disease,disease -UMLS:C0023467 MONDO:0018874, MONDO:0015667 myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0270914 MONDO:0018993, MONDO:0019941, MONDO:0015626 Charcot-Marie-Tooth disease,hereditary peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0035344 MONDO:0006952 FZD4-related exudative vitreoretinopathy,exudative vitreoretinopathy,retinal vascular disorder,retinal disorder,nervous system disorder,human disease,disease -UMLS:C4290088 MONDO:0001609, MONDO:0018542 leukopenia,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C5193020 MONDO:0032668 Diamond-Blackfan anemia,pure red-cell aplasia,anemia,hematologic disorder,human disease,disease -UMLS:C3658267 MONDO:0850353 prostate carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0546125 MONDO:0018958, MONDO:0015738 congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0162568 MONDO:0001676, MONDO:0008319, MONDO:0019263 hepatic porphyria,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0399372 MONDO:0015048 amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C1720824 MONDO:0100511 cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0432242 MONDO:0015426 hereditary disease,human disease,disease -UMLS:C0012242 MONDO:0004335 human disease,disease -UMLS:C2200127 disease -UMLS:C3552553 MONDO:0012880 Kallmann syndrome,syndromic disease,human disease,disease -UMLS:C0029799 MONDO:0000986 pleural disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0751651 MONDO:0004069, MONDO:0044970 developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C5679993 MONDO:0018698 hereditary disease,human disease,disease -UMLS:C1869117 MONDO:0700088 paroxysmal dyskinesia,paroxysmal dystonia,combined dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0025500 MONDO:0002373, MONDO:0005065 mesothelioma,mesothelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4015729 MONDO:0014555 generalized peeling skin syndrome,peeling skin syndrome,inherited ichthyosis,ichthyosis,epidermal disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C1864872 MONDO:0012495 spondyloepimetaphyseal dysplasia,osteochondrodysplasia,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1135196 MONDO:0006727 congestive heart failure,heart failure,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0085583 disease -UMLS:C0270855 MONDO:0016022 neonatal period electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0029866 MONDO:0003329 ureteral disorder,urinary system disorder,human disease,disease -UMLS:C0021390 MONDO:0005265 hereditary disease,human disease,disease -UMLS:C4748768 MONDO:0032616 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C3551954 MONDO:0011829, MONDO:0018151 coenzyme Q10 deficiency,mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1800706 MONDO:0800029 idiopathic interstitial pneumonia,pneumonia,respiratory tract infectious disorder,respiratory system disorder,human disease,disease -UMLS:C0028797 MONDO:0100366 human disease,disease -UMLS:C1848070 disease -UMLS:C4225404 MONDO:0012274 acromesomelic dysplasia,osteochondrodysplasia,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1857586 MONDO:0016581 congenital heart malformation,congenital anomaly of cardiovascular system,cardiovascular disorder,human disease,disease -UMLS:C0221217 disease -UMLS:C3151192 MONDO:0013449 Leber congenital amaurosis,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4025797 disease -UMLS:C0342643 MONDO:0009430, MONDO:0017324 autosomal recessive hypophosphatemic rickets,hereditary hypophosphatemic rickets,hereditary disease,human disease,disease -UMLS:C0023470 MONDO:0004643 leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4552043 MONDO:0012400 syndromic disease,human disease,disease -UMLS:C0158449 MONDO:0005380 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0854893 MONDO:0016982 vascular cancer,cardiovascular cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2751321 MONDO:0013115 inherited cutis laxa,hereditary disease,human disease,disease -UMLS:C0162834 MONDO:0019289 skin pigmentation disorder,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3552311 disease -UMLS:C5774315 disease -UMLS:C0007097 MONDO:0004993 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0239842 disease -UMLS:C0023462 MONDO:0018872 acute myeloid leukemia by FAB classification,acute myeloid leukemia,myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0002882 MONDO:0006506 congenital anemia,anemia,hematologic disorder,human disease,disease -UMLS:C3809001 MONDO:0014110 early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C3495591 MONDO:0007311 Charcot-Marie-Tooth disease type 1,Charcot-Marie-Tooth disease,hereditary peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4012212 disease -UMLS:C0002940 MONDO:0005385 cardiovascular disorder,human disease,disease -UMLS:C2931004 MONDO:0011964 congenital disorder of glycosylation type I,congenital disorder of glycosylation,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C5197805 disease -UMLS:C0751955 MONDO:0005394 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4277682 MONDO:0005359 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0029810 MONDO:0001356 hypochromic microcytic anemia,microcytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C4540358 MONDO:0044718 leukodystrophy,inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1847605 MONDO:0000724, MONDO:0011711 language disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5543491 MONDO:0859160 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0008924 MONDO:0004747, MONDO:0016043 orofacial cleft,hereditary disease,human disease,disease -UMLS:C0349506 MONDO:0005434, MONDO:0006597 photosensitivity disease,radiodermatitis,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3896578 MONDO:0018604 hereditary nonpolyposis colon cancer,hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0013338 MONDO:0009876, MONDO:0000050, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0006909, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0027720 MONDO:0002331 kidney disorder,urinary system disorder,human disease,disease -UMLS:C0162770 disease -UMLS:C5543257 MONDO:0031007 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0042487 disease -UMLS:C4747743 MONDO:0014267 T+ B+ severe combined immunodeficiency,severe combined immunodeficiency,combined immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C1844020 MONDO:0018677, MONDO:0010607 syndromic disease,human disease,disease -UMLS:C0007786 MONDO:0005299 ischemic disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0153493 MONDO:0008903 respiratory system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0029227 MONDO:0002039 psychiatric disorder,human disease,disease -UMLS:C4751003 MONDO:0014375 congenital diarrhea,diarrheal disease,digestive system disorder,human disease,disease -UMLS:C5680363 MONDO:0035525 blepharophimosis, ptosis, and epicanthus inversus syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0265306 MONDO:0008287 syndromic disease,human disease,disease -UMLS:C0007286 MONDO:0007275 nerve compression syndrome,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0236736 disease -UMLS:C2584774 MONDO:0008737 familial dysfibrinogenemia,congenital fibrinogen deficiency,coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C3280296 MONDO:0013659 syndromic disease,human disease,disease -UMLS:C5231558 MONDO:0011393 hypoalphalipoproteinemia,metabolic disease,human disease,disease -UMLS:C4016298 disease -UMLS:C1848137 MONDO:0010246 X-linked intellectual disability-epilepsy syndrome,monogenic epilepsy,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0020500 MONDO:0002474 inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1445953 disease -UMLS:C0751265 MONDO:0004681 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0751157 MONDO:0010383, MONDO:0010659 syndromic disease,human disease,disease -UMLS:C0272236 MONDO:0003947 hyperimmunoglobulin syndrome,B cell deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0019284 MONDO:0005711 diaphragm disorder,respiratory system disorder,human disease,disease -UMLS:C0431363 MONDO:0019757, MONDO:0016296 holoprosencephaly,syndromic disease,human disease,disease -UMLS:C4310818 MONDO:0010508 non-syndromic X-linked intellectual disability,non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C1335302 MONDO:0005184 tubular adenocarcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4551506 MONDO:0700088, MONDO:0700089 paroxysmal dyskinesia,paroxysmal dystonia,combined dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C4553889 MONDO:0012137 Carney complex,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0009363 MONDO:0001476, MONDO:0007350 eye disorder,disorder of orbital region,human disease,disease -UMLS:C1861884 disease -UMLS:C4017280 disease -UMLS:C1832409 MONDO:0015526, MONDO:0010091 cold-induced sweating syndrome - hyperthermia spectrum,hereditary sensory and autonomic neuropathy,sensory peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0013261 MONDO:0007473 syndromic disease,human disease,disease -UMLS:C4545043 MONDO:0013607 GATA2 deficiency with susceptibility to MDS/AML,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0149745 disease -UMLS:C0242184 disease -UMLS:C0027877 MONDO:0008767, MONDO:0008768, MONDO:0008769, MONDO:0009744, MONDO:0009745, MONDO:0011144, MONDO:0012188, MONDO:0012391, MONDO:0012414, MONDO:0012588, MONDO:0008083, MONDO:0013866, MONDO:0014147, MONDO:0016295, MONDO:0010830 juvenile neuronal ceroid lipofuscinosis,neuronal ceroid lipofuscinosis,lysosomal lipid storage disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0003123 disease -UMLS:C0009171 MONDO:0004456 substance abuse,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0149782 MONDO:0005097 squamous cell carcinoma,squamous cell neoplasm,epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0427065 disease -UMLS:C1849813 MONDO:0009867 disorder of glycogen metabolism,inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0265747 MONDO:0012085, MONDO:0012087, MONDO:0012088, MONDO:0013174, MONDO:0011718, MONDO:0014378, MONDO:0012571, MONDO:0014465, MONDO:0014657, MONDO:0014750, MONDO:0013434, MONDO:0013435, MONDO:0013525, MONDO:0009484, MONDO:0013854, MONDO:0013940, MONDO:0012748, MONDO:0012844, MONDO:0013979, MONDO:0014030, MONDO:0012906, MONDO:0012918, MONDO:0014123, MONDO:0012978, MONDO:0012979, MONDO:0014192, MONDO:0014193, MONDO:0014202, MONDO:0014203, MONDO:0014211, MONDO:0014215, MONDO:0014216 primary ciliary dyskinesia,syndromic disease,human disease,disease -UMLS:C5548209 MONDO:0017354 glycine encephalopathy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0022716 MONDO:0010651 syndromic disease,human disease,disease -UMLS:C4225360 MONDO:0014595 early myoclonic encephalopathy,neonatal period electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1837229 MONDO:0012138 muscular dystrophy-dystroglycanopathy, type B,muscular dystrophy-dystroglycanopathy,congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0221765 disease -UMLS:C0014457 MONDO:0015691 syndromic disease,human disease,disease -UMLS:C0035353 disease -UMLS:C0869083 MONDO:0011812, MONDO:0014434, MONDO:0014443, MONDO:0014444, MONDO:0014445, MONDO:0014446, MONDO:0014447, MONDO:0009477, MONDO:0010277, MONDO:0010284, MONDO:0010306, MONDO:0010333, MONDO:0010353, MONDO:0010355, MONDO:0010407, MONDO:0010409, MONDO:0017398, MONDO:0010427, MONDO:0012980, MONDO:0010461, MONDO:0010658, MONDO:0010664 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C3280953 MONDO:0013771 hereditary disease,human disease,disease -UMLS:C0011195 MONDO:0000902, MONDO:0012096, MONDO:0011085, MONDO:0011091, MONDO:0011113, MONDO:0013212, MONDO:0011527, MONDO:0011534, MONDO:0007790, MONDO:0011633, MONDO:0011687, MONDO:0012231, MONDO:0012250, MONDO:0011894, MONDO:0011901, MONDO:0011902, MONDO:0011903, MONDO:0011916, MONDO:0014467, MONDO:0014566, MONDO:0014733, MONDO:0014735, MONDO:0014866, MONDO:0013338, MONDO:0013644, MONDO:0015358, MONDO:0013753, MONDO:0013758, MONDO:0012640, MONDO:0007307, MONDO:0007308, MONDO:0007309, MONDO:0007311, MONDO:0013959, MONDO:0014012, MONDO:0014074, MONDO:0014117, MONDO:0014154, MONDO:0010479, MONDO:0014208, MONDO:0010549, MONDO:0010689, MONDO:0010699 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1568247 MONDO:0010168, MONDO:0019501, MONDO:0700087 Usher syndrome,syndromic disease,human disease,disease -UMLS:C0220765 MONDO:0010193 syndromic disease,human disease,disease -UMLS:C0730292 disease -UMLS:C0041234 MONDO:0001444 trypanosomiasis,protozoa infectious disease,parasitic infectious disease,infectious disease,human disease,disease -UMLS:C0238288 MONDO:0001347 progressive muscular dystrophy,muscular dystrophy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2751763 MONDO:0011458 cone-rod dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0270763 MONDO:0020128, MONDO:0024257 neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4021745 disease -UMLS:C0042974 MONDO:0012354, MONDO:0008332, MONDO:0013622, MONDO:0013623, MONDO:0024574, MONDO:0019565 inherited bleeding disorder, platelet-type,hemorrhagic disease,hematologic disorder,human disease,disease -UMLS:C0023290 MONDO:0005445 hereditary disease,human disease,disease -UMLS:C0011849 MONDO:0005015 endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0549622 MONDO:0002134 reproductive system disorder,human disease,disease -UMLS:C0858617 MONDO:0020378 cataract 16 multiple types,early-onset zonular cataract,early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C4551899 MONDO:0008892, MONDO:0019008, MONDO:0009469 progressive familial intrahepatic cholestasis,syndromic disease,human disease,disease -UMLS:C1836448 MONDO:0012239 intermediate nemaline myopathy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0559260 disease -UMLS:C0206641 MONDO:0005508 exostosis,hyperostosis,bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1306122 MONDO:0004587, MONDO:0019152, MONDO:0016293 disease -UMLS:C1840235 MONDO:0007819, MONDO:0017219 holoprosencephaly 3,holoprosencephaly,syndromic disease,human disease,disease -UMLS:C0008373 MONDO:0006530 keratosis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0205713 MONDO:0000902, MONDO:0012096, MONDO:0011085, MONDO:0011091, MONDO:0011113, MONDO:0013212, MONDO:0011527, MONDO:0011534, MONDO:0011633, MONDO:0011687, MONDO:0012231, MONDO:0012250, MONDO:0011894, MONDO:0011901, MONDO:0011902, MONDO:0011903, MONDO:0011916, MONDO:0014467, MONDO:0014566, MONDO:0014733, MONDO:0014735, MONDO:0014866, MONDO:0008392, MONDO:0013338, MONDO:0013644, MONDO:0013753, MONDO:0013758, MONDO:0012640, MONDO:0007307, MONDO:0007308, MONDO:0007309, MONDO:0007311, MONDO:0013959, MONDO:0015626, MONDO:0014012, MONDO:0014074, MONDO:0014117, MONDO:0014154, MONDO:0010479, MONDO:0014208, MONDO:0010549, MONDO:0010689, MONDO:0010699 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0037116 MONDO:0005960 pneumoconiosis,interstitial lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0878544 MONDO:0004994 muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1851936 disease -UMLS:C3279550 MONDO:0001913 male infertility,male reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C3808494 MONDO:0013696 schizophrenia,psychotic disorder,cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C0023892 MONDO:0005388 biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C1855925 MONDO:0009392 hereditary disease,human disease,disease -UMLS:C0152421 disease -UMLS:C1864498 MONDO:0018440 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0029171 MONDO:0018166 mouth disorder,human disease,disease -UMLS:C5543267 MONDO:0031008 nephrotic syndrome,syndromic disease,human disease,disease -UMLS:C4708599 MONDO:0020354 coloboma, ocular, autosomal dominant,coloboma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0026269 MONDO:0005852 mitral valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0020564 disease -UMLS:C5433293 MONDO:0100233 post-COVID-19 disorder,post-viral disorder,post-infectious disorder,human disease,disease -UMLS:C0033687 MONDO:0003634 kidney disorder,urinary system disorder,human disease,disease -UMLS:C4020900 disease -UMLS:C0007785 MONDO:0002679 brain infarction,cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0035126 MONDO:0005203 disease -UMLS:C5680510 MONDO:0015786 Prader-Willi syndrome,syndromic disease,human disease,disease -UMLS:C0220743 MONDO:0018570 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0409667 MONDO:0011429, MONDO:0024281 rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C0021364 MONDO:0005372 male reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C0031511 MONDO:0008233 hereditary pheochromocytoma-paraganglioma,adrenal gland disorder,endocrine system disorder,human disease,disease -UMLS:C1141890 MONDO:0019171 long QT syndrome,syndromic disease,human disease,disease -UMLS:C0919532 disease -UMLS:C0018203 MONDO:0018305 phagocyte bactericidal dysfunction,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0751617 MONDO:0016296 syndromic disease,human disease,disease -UMLS:C0220663 MONDO:0007201 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0038013 MONDO:0005306 spondylitis,inflammatory disease,human disease,disease -UMLS:C0020437 MONDO:0001566 calcium metabolic disease,mineral metabolism disease,metabolic disease,human disease,disease -UMLS:C0600427 MONDO:0005186 drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C5679683 MONDO:0016864 Duane-radial ray syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0265561 MONDO:0017436, MONDO:0017469 hereditary disease,human disease,disease -UMLS:C0311375 disease -UMLS:C4013560 MONDO:0800345 familial atrial fibrillation,atrial fibrillation,cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0026858 disease -UMLS:C5680507 MONDO:0015783 Prader-Willi syndrome due to paternal 15q11q13 deletion,Prader-Willi syndrome,syndromic disease,human disease,disease -UMLS:C3714534 MONDO:0008371 reticulate pigment disorder,skin pigmentation disorder,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0553681 disease -UMLS:C0220633 MONDO:0006486 uveal cancer,ocular cancer,sensory system cancer,nervous system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0270611 MONDO:0043510 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1335473 MONDO:0008977 sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0036875 MONDO:0002145 gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0009421 disease -UMLS:C4016059 disease -UMLS:C4748766 MONDO:0032613 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C4721436 MONDO:0011527, MONDO:0033352 Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease,hereditary peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5574905 MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency,disorder of gluconeogenesis,glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C0740457 MONDO:0002367 malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1863012 MONDO:0007093 amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C0158252 MONDO:0011385, MONDO:0044339 vertebral column disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4021784 disease -UMLS:C0011156 MONDO:0006873 nutritional disorder,human disease,disease -UMLS:C0242339 disease -UMLS:C0017636 MONDO:0018177 high grade astrocytic tumor,astrocytic tumor,glioma,neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0919267 MONDO:0008170, MONDO:0021068 female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3553676 MONDO:0013887, MONDO:0018677 visceral heterotaxy,syndromic disease,human disease,disease -UMLS:C1834523 MONDO:0011128 distal arthrogryposis,hereditary disease,human disease,disease -UMLS:C0017152 MONDO:0004966 stomach disorder,digestive system disorder,human disease,disease -UMLS:C3805375 MONDO:0018264 oculocutaneous albinism,disorder of melanin metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0221356 MONDO:0015469 synostosis,dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0272242 MONDO:0009006, MONDO:0003832, MONDO:0013421, MONDO:0013422, MONDO:0013445, MONDO:0013720 classic complement early component deficiency,complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0403397 MONDO:0005377, MONDO:0044765 syndromic disease,human disease,disease -UMLS:C2748055 disease -UMLS:C0014836 MONDO:0020920 bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0948163 disease -UMLS:C4721411 MONDO:0043731 bone resorption disease,bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0853697 MONDO:0001475 agranulocytosis,leukopenia,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C4693941 MONDO:0044777 inherited primary ovarian failure,hereditary disease,human disease,disease -UMLS:C0432238 MONDO:0019698 skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C4551766 disease -UMLS:C0156257 MONDO:0008171 kidney disorder,urinary system disorder,human disease,disease -UMLS:C0008928 MONDO:0007340 syndromic disease,human disease,disease -UMLS:C0035078 MONDO:0001106 kidney disorder,urinary system disorder,human disease,disease -UMLS:C0031117 MONDO:0005244, MONDO:0003620 peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3887487 MONDO:0019673 postaxial polydactyly,non-syndromic polydactyly,polydactyly,hereditary disease,human disease,disease -UMLS:C2930619 MONDO:0002145 gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0029456 MONDO:0005298 bone resorption disease,bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1257806 disease -UMLS:C4024202 disease -UMLS:C1704417 MONDO:0007751 familial hypercholesterolemia,familial hyperlipidemia,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0476403 disease -UMLS:C0268616 MONDO:0009058 inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1333990 MONDO:0018630 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0268579 MONDO:0011628 classic organic aciduria,inborn organic aciduria,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0342384 MONDO:0007794 congenital hypogonadotropic hypogonadism,hypogonadotropic hypogonadism,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1969063 MONDO:0012687 hereditary disease,human disease,disease -UMLS:C1304242 MONDO:0007101 primary cutaneous amyloidosis,amyloidosis,proteostasis deficiencies,metabolic disease,human disease,disease -UMLS:C1864389 MONDO:0008304 hereditary disease,human disease,disease -UMLS:C4750837 MONDO:0014205 hereditary disease,human disease,disease -UMLS:C0410422 MONDO:0009813, MONDO:0958177 osteomyelitis,bone inflammation disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0025517 MONDO:0005066 human disease,disease -UMLS:C0027497 disease -UMLS:C3495427 MONDO:0001083, MONDO:0009216 syndromic disease,human disease,disease -UMLS:C2678484 MONDO:0012737 familial long QT syndrome,long QT syndrome,syndromic disease,human disease,disease -UMLS:C0243057 disease -UMLS:C5679692 MONDO:0014555 generalized peeling skin syndrome,peeling skin syndrome,inherited ichthyosis,ichthyosis,epidermal disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0542514 disease -UMLS:C0080178 MONDO:0008449, MONDO:0019351 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0162809 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0018800, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4310656 MONDO:0014981 inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C1848554 MONDO:0017685, MONDO:0010185 vitamin B12-responsive methylmalonic acidemia,methylmalonic acidemia,inborn organic aciduria,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4025576 disease -UMLS:C0017531 MONDO:0015564 lymphoproliferative syndrome,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0024408 MONDO:0007182 Huntington disease-like syndrome,Huntington disease and related disorders,inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0017661 MONDO:0005342 glomerulonephritis,nephritis,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0036857 MONDO:0010402 X-linked syndromic intellectual disability,syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C1840333 MONDO:0007797 syndromic disease,human disease,disease -UMLS:C0004930 MONDO:0002025 human disease,disease -UMLS:C0034194 MONDO:0001561 stomach disorder,digestive system disorder,human disease,disease -UMLS:C0282548 MONDO:0006831 leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0271623 MONDO:0002146, MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0266568 MONDO:0019631 vitreous disorder,vitreous body disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0457133 MONDO:0000171, MONDO:0018939 muscular dystrophy-dystroglycanopathy,congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1864900 MONDO:0012398 achromatopsia,color vision disorder,blindness (disorder),vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C1861862 MONDO:0007268 familial hypertrophic cardiomyopathy,hypertrophic cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0035372 MONDO:0010726 pervasive developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0020619 MONDO:0002146 gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1868114 MONDO:0008270 preaxial polydactyly of fingers,non-syndromic polydactyly,polydactyly,hereditary disease,human disease,disease -UMLS:C2938915 disease -UMLS:C1843153 MONDO:0011903 Charcot-Marie-Tooth disease dominant intermediate D,autosomal dominant intermediate Charcot-Marie-Tooth disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C2931838 disease -UMLS:C0149670 MONDO:0019214, MONDO:0037792 inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C3553944 MONDO:0013935 Usher syndrome type 1,Usher syndrome,syndromic disease,human disease,disease -UMLS:C1845026 MONDO:0018075, MONDO:0010525 central nervous system malformation,nervous system disorder,human disease,disease -UMLS:C1859690 MONDO:0008828 rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C0003742 MONDO:0007150 corneal degeneration,corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0023343 MONDO:0005124 primary bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0001973 MONDO:0002046, MONDO:0007079 substance abuse,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C1837014 MONDO:0011857, MONDO:0018054 familial atrial fibrillation,atrial fibrillation,cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1857710 disease -UMLS:C0028756 MONDO:0005139 obesity disorder,overnutrition,nutritional disorder,human disease,disease -UMLS:C0026884 MONDO:0002905 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4015368 MONDO:0014514 familial thoracic aortic aneurysm and aortic dissection,hereditary disease,human disease,disease -UMLS:C0699791 MONDO:0004950 gastric cancer,digestive system cancer,digestive system disorder,human disease,disease -UMLS:C5680095 MONDO:0018841 steroid inherited metabolic disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0036095 MONDO:0004669, MONDO:0021357 oral cavity cancer,digestive system cancer,digestive system disorder,human disease,disease -UMLS:C1832855 MONDO:0010983 paroxysmal dystonia,combined dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0265553 MONDO:0008272, MONDO:0021002 non-syndromic synpolydactyly,non-syndromic syndactyly,syndactyly,hereditary disease,human disease,disease -UMLS:C0152455 MONDO:0001250 eye disorder,disorder of orbital region,human disease,disease -UMLS:C3150852 MONDO:0013318 hereditary disease,human disease,disease -UMLS:C1857777 MONDO:0012434 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0917804 MONDO:0007154 arteriovenous hemangioma/malformation,hemangioma,benign blood vessel neoplasm,cardiovascular organ benign neoplasm,benign neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0342749 MONDO:0009288 constitutional neutropenia,neutropenia,agranulocytosis,leukopenia,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C4225183 MONDO:0014798 brachydactyly,hereditary disease,human disease,disease -UMLS:C0029410 MONDO:0006629 osteoarthritis,arthritic joint disease,bone inflammation disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0019337 MONDO:0005367 opiate dependence,drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C3888087 MONDO:0011889 Charcot-Marie-Tooth disease dominant intermediate D,autosomal dominant intermediate Charcot-Marie-Tooth disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5779546 MONDO:0007492, MONDO:0007493, MONDO:0007495, MONDO:0011264, MONDO:0011886, MONDO:0008044, MONDO:0014627, MONDO:0013813, MONDO:0009141, MONDO:0014033, MONDO:0012895, MONDO:0010747 early-onset generalized dystonia,generalized dystonia,isolated dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C4751000 MONDO:0014060 inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C5830244 MONDO:0859365 neurodevelopmental disorder,nervous system disorder,human disease,disease -UMLS:C0520863 disease -UMLS:C1832388 MONDO:0011071, MONDO:0100083 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C5680513 MONDO:0015791 precocious puberty,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0017639 disease -UMLS:C0022665 MONDO:0002367, MONDO:0021163 malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3810107 MONDO:0014276 combined immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0020630 MONDO:0018570 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4087347 MONDO:0020380 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0271650 MONDO:0001076 glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C1843355 MONDO:0011874 syndromic disease,human disease,disease -UMLS:C0700501 MONDO:0005712 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0334121 MONDO:0015798 soft tissue neoplasm,connective and soft tissue neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0024620 MONDO:0002691 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C1864850 MONDO:0012506 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0006413 MONDO:0007243 hereditary disease,human disease,disease -UMLS:C0175754 MONDO:0009022 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0859976 MONDO:0019635 achalasia,esophageal disorder,digestive system disorder,human disease,disease -UMLS:C4082171 MONDO:0009376 urea cycle disorder or inherited hyperammonemia,urea cycle disorder,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0206698 MONDO:0019087, MONDO:0018531 adenocarcinoma of gallbladder and extrahepatic biliary tract,extrahepatic bile duct adenocarcinoma,extrahepatic bile duct carcinoma,bile duct carcinoma,bile duct cancer,biliary tract cancer,liver cancer,digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0007001 MONDO:0019214 inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0752252 disease -UMLS:C1335029 MONDO:0003620 nervous system disorder,human disease,disease -UMLS:C0020507 MONDO:0005043 cancer or benign tumor,human disease,disease -UMLS:C1408174 MONDO:0000902, MONDO:0012096, MONDO:0011085, MONDO:0011091, MONDO:0011113, MONDO:0013212, MONDO:0011527, MONDO:0011534, MONDO:0011633, MONDO:0011687, MONDO:0012231, MONDO:0012250, MONDO:0011894, MONDO:0011901, MONDO:0011902, MONDO:0011903, MONDO:0011916, MONDO:0014467, MONDO:0014566, MONDO:0014733, MONDO:0014735, MONDO:0014866, MONDO:0013338, MONDO:0013644, MONDO:0013753, MONDO:0013758, MONDO:0012640, MONDO:0007307, MONDO:0007308, MONDO:0007309, MONDO:0007311, MONDO:0013959, MONDO:0014012, MONDO:0014074, MONDO:0014117, MONDO:0014154, MONDO:0010479, MONDO:0014208, MONDO:0010549, MONDO:0010689, MONDO:0010699 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0027746 MONDO:0005559 central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5680364 MONDO:0035529 hereditary disease,human disease,disease -UMLS:C0029928 MONDO:0005558 gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0035455 MONDO:0003014 nasal cavity disorder,nasal disorder,otorhinolaryngologic disease,human disease,disease -UMLS:C1135747 MONDO:0018059 meningococcal infection,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0158651 MONDO:0004747 orofacial cleft,hereditary disease,human disease,disease -UMLS:C5543581 MONDO:0030308 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C1854310 MONDO:0018914 alopecia,hair anomaly,disorder of pilosebaceous unit,integumentary system disorder,human disease,disease -UMLS:C2931245 MONDO:0000159 bone marrow disorder,immune system disorder,human disease,disease -UMLS:C4016256 disease -UMLS:C0015423 MONDO:0003382 eye adnexa disorder,disorder of orbital region,human disease,disease -UMLS:C0478019 MONDO:0012085, MONDO:0012087, MONDO:0012088, MONDO:0013174, MONDO:0011718, MONDO:0014378, MONDO:0012571, MONDO:0014465, MONDO:0014657, MONDO:0014750, MONDO:0013434, MONDO:0013435, MONDO:0013525, MONDO:0009484, MONDO:0013854, MONDO:0013940, MONDO:0012748, MONDO:0012844, MONDO:0013979, MONDO:0014030, MONDO:0012906, MONDO:0012918, MONDO:0014123, MONDO:0012978, MONDO:0012979, MONDO:0014192, MONDO:0014193, MONDO:0014202, MONDO:0014203, MONDO:0014211, MONDO:0014215, MONDO:0014216 primary ciliary dyskinesia,syndromic disease,human disease,disease -UMLS:C0029771 MONDO:0002356 digestive system disorder,human disease,disease -UMLS:C1850049 disease -UMLS:C0036996 MONDO:0015461 syndromic disease,human disease,disease -UMLS:C1867969 disease -UMLS:C0162529 MONDO:0000701 colitis,gastroenteritis,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0333641 disease -UMLS:C0023976 MONDO:0002442 syndromic disease,human disease,disease -UMLS:C0206157 MONDO:0018958 congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0041327 MONDO:0006052, MONDO:0957462 respiratory system disorder,human disease,disease -UMLS:C0206138 MONDO:0019563 syndromic disease,human disease,disease -UMLS:C1867904 MONDO:0013372 familial long QT syndrome,long QT syndrome,syndromic disease,human disease,disease -UMLS:C0085159 MONDO:0000694 depressive disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5829889 MONDO:0012239 intermediate nemaline myopathy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0032914 MONDO:0005081 hereditary disease,human disease,disease -UMLS:C4551509 MONDO:0002441, MONDO:0024540 familial long QT syndrome,long QT syndrome,syndromic disease,human disease,disease -UMLS:C0002878 MONDO:0003664 normocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C1862389 MONDO:0006664, MONDO:0007172 heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0431399 MONDO:0018772 syndromic disease,human disease,disease -UMLS:C0020538 MONDO:0005044 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C4014528 MONDO:0014376 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4274332 MONDO:0017366 adrenal gland disorder,endocrine system disorder,human disease,disease -UMLS:C0022660 MONDO:0002492 kidney failure,kidney disorder,urinary system disorder,human disease,disease -UMLS:C4755257 MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C2930967 MONDO:0024503, MONDO:0000386 digestive system disorder,human disease,disease -UMLS:C0027796 MONDO:0021667 peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0341106 MONDO:0005361 esophagitis,esophageal disorder,digestive system disorder,human disease,disease -UMLS:C3541994 MONDO:0015340 syndromic disease,human disease,disease -UMLS:C0345050 MONDO:0024559, MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection,hereditary disease,human disease,disease -UMLS:C1835677 MONDO:0007851, MONDO:0015486 keratoconus,corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C3554607 MONDO:0014065 mitochondrial complex III deficiency, nuclear type,mitochondrial complex III deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C2936380 disease -UMLS:C3241937 MONDO:0013209, MONDO:0007027 fatty liver disease,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0007282 MONDO:0001612 carotid artery disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0023817 MONDO:0009387 familial hyperlipidemia,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4225426 MONDO:0008566 thyroid gland follicular carcinoma,differentiated thyroid carcinoma,thyroid gland carcinoma,thyroid cancer,thyroid tumor,endocrine gland neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3276036 disease -UMLS:C1863616 MONDO:0011359 frontonasal dysplasia,hereditary disease,human disease,disease -UMLS:C0002888 MONDO:0001700 macrocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C4310764 MONDO:0014865 autosomal recessive severe congenital neutropenia,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1835932 MONDO:0012358 inherited disease susceptibility,disease susceptibility -UMLS:C1834153 disease -UMLS:C0038002 disease -UMLS:C5680057 MONDO:0018614 inborn disorder of amino acid transport,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1863728 MONDO:0011336 hereditary hemophagocytic lymphohistiocytosis,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0153421 MONDO:0001056 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0022568 MONDO:0003085 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0023786 MONDO:0001586, MONDO:0011760 eye disorder,disorder of orbital region,human disease,disease -UMLS:C0000768 disease -UMLS:C0340493 MONDO:0100234 ventricular fibrillation,cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0344688 MONDO:0011089 hereditary disease,human disease,disease -UMLS:C0007112 MONDO:0005082 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2057625 MONDO:0006447 testicular germ cell tumor,gonadal germ cell tumor,germ cell tumor,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1865926 MONDO:0011178 syndromic disease,human disease,disease -UMLS:C0600139 MONDO:0005159 carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0037274 MONDO:0005093 integumentary system disorder,human disease,disease -UMLS:C5774256 MONDO:0859318 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0020615 MONDO:0004946 glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C1510489 MONDO:0005620 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0030524 MONDO:0025449 cattle disease,non-human animal disease,disease -UMLS:C3150956 disease -UMLS:C0020649 MONDO:0005468 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C1275116 MONDO:0009925 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0035320 disease -UMLS:C1862839 MONDO:0019503 hereditary disease,human disease,disease -UMLS:C0600327 MONDO:0001881 commensal bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0042842 MONDO:0007016 vitamin deficiency disorder,nutritional deficiency disease,nutritional disorder,human disease,disease -UMLS:C0344975 MONDO:0009931 hereditary disease,human disease,disease -UMLS:C0037286 MONDO:0002531 neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0022658 MONDO:0005240 urinary system disorder,human disease,disease -UMLS:C0559470 disease -UMLS:C0231528 disease -UMLS:C0009782 MONDO:0003900 human disease,disease -UMLS:C4551898 MONDO:0008892, MONDO:0015762 progressive familial intrahepatic cholestasis,syndromic disease,human disease,disease -UMLS:C0015674 MONDO:0005404 syndromic disease,human disease,disease -UMLS:C1848947 MONDO:0015526, MONDO:0010091 cold-induced sweating syndrome - hyperthermia spectrum,hereditary sensory and autonomic neuropathy,sensory peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1856127 MONDO:0009339 congenital bile acid synthesis defect,steroid inherited metabolic disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4016325 disease -UMLS:C0855740 disease -UMLS:C1837397 disease -UMLS:C0154860 MONDO:0008764, MONDO:0008765, MONDO:0012056, MONDO:0010984, MONDO:0011186, MONDO:0011195, MONDO:0011259, MONDO:0013175, MONDO:0011473, MONDO:0011558, MONDO:0011630, MONDO:0011748, MONDO:0014323, MONDO:0014345, MONDO:0014400, MONDO:0014618, MONDO:0014653, MONDO:0014687, MONDO:0014692, MONDO:0008381, MONDO:0014871, MONDO:0015013, MONDO:0013263, MONDO:0013274, MONDO:0013312, MONDO:0013314, MONDO:0013315, MONDO:0013328, MONDO:0013405, MONDO:0013407, MONDO:0013413, MONDO:0013414, MONDO:0013429, MONDO:0013436, MONDO:0013437, MONDO:0013447, MONDO:0013449, MONDO:0013453, MONDO:0013457, MONDO:0013468, MONDO:0013469, MONDO:0009984, MONDO:0009987, MONDO:0013516, MONDO:0013610, MONDO:0013611, MONDO:0013613, MONDO:0013780, MONDO:0013788, MONDO:0012662, MONDO:0019118, MONDO:0020381, MONDO:0013935, MONDO:0010168, MONDO:0010169, MONDO:0010170, MONDO:0010171, MONDO:0010259, MONDO:0010320, MONDO:0014001, MONDO:0014093, MONDO:0014145, MONDO:0012968, MONDO:0014186, MONDO:0015993, MONDO:0014256, MONDO:0010761 Leber congenital amaurosis,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0035328 MONDO:0006951 retinal vascular occlusion,retinal vascular disorder,retinal disorder,nervous system disorder,human disease,disease -UMLS:C1863061 disease -UMLS:C0024713 MONDO:0004985, MONDO:0024612 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C1851920 MONDO:0007495, MONDO:0016812 GTP cyclohydrolase I deficiency,tetrahydrobiopterin metabolic process disease,disorder of phenylalanine metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0013604 disease -UMLS:C0011860 MONDO:0005148 diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C5779548 MONDO:0019587 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0268505 MONDO:0010371 X-linked disease,hereditary disease,human disease,disease -UMLS:C0033805 MONDO:0018638 renal tubular transport disease,kidney disorder,urinary system disorder,human disease,disease -UMLS:C5543622 MONDO:0030374 WHIM syndrome,hereditary disease,human disease,disease -UMLS:C0162671 MONDO:0010789 syndromic disease,human disease,disease -UMLS:C1836508 disease -UMLS:C0004936 MONDO:0002025, MONDO:0005084 human disease,disease -UMLS:C0155568 MONDO:0005648 aortic valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0026766 MONDO:0043726 syndromic disease,human disease,disease -UMLS:C3825727 disease -UMLS:C5680153 MONDO:0034022 Bethlem myopathy,progressive muscular dystrophy,muscular dystrophy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4510380 MONDO:0007984 syndromic disease,human disease,disease -UMLS:C2677101 MONDO:0012831 inflammatory bowel disease,hereditary disease,human disease,disease -UMLS:C0206656 MONDO:0009993 hereditary disease,human disease,disease -UMLS:C0796004 MONDO:0007843, MONDO:0016512 Kabuki syndrome,syndromic disease,human disease,disease -UMLS:C0027092 MONDO:0001384 hereditary disease,human disease,disease -UMLS:C5830329 MONDO:0859522 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C5681165 disease -UMLS:C0019202 MONDO:0010200 inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1578482 disease -UMLS:C0268125 MONDO:0013171 inborn disorder of purine metabolism,inborn disorder of purine or pyrimidine metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C5190593 MONDO:0014267 T+ B+ severe combined immunodeficiency,severe combined immunodeficiency,combined immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0002625 MONDO:0001152 cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C0030804 MONDO:0018746 autoimmune bullous skin disease,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0687120 MONDO:0019005 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0270790 MONDO:0001590 palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0038356 MONDO:0001056, MONDO:0021085 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0003850 MONDO:0005311, MONDO:0002277 arteriosclerosis disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0019080 disease -UMLS:C1857640 disease -UMLS:C0149721 disease -UMLS:C0270850 MONDO:0005579 epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0150055 disease -UMLS:C0333068 disease -UMLS:C3279699 MONDO:0013546 mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0002896 MONDO:0015194 anemia,hematologic disorder,human disease,disease -UMLS:C0220697 MONDO:0020927, MONDO:0021003 non-syndromic polydactyly,polydactyly,hereditary disease,human disease,disease -UMLS:C1868679 MONDO:0011872 constitutional neutropenia,neutropenia,agranulocytosis,leukopenia,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0153458 MONDO:0009831 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0003119 disease -UMLS:C0027643 disease -UMLS:C4707243 MONDO:0019625 hereditary disease,human disease,disease -UMLS:C0029823 MONDO:0004522 digestive system disorder,human disease,disease -UMLS:C1840529 MONDO:0007733 holoprosencephaly,syndromic disease,human disease,disease -UMLS:C0265633 MONDO:0010144 hemimelia,dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4281785 MONDO:0850093, MONDO:0010826 electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0002453 MONDO:0001836 female reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C1704423 MONDO:0007919, MONDO:0019297, MONDO:0019313 lymphatic malformation,hereditary disease,human disease,disease -UMLS:C0005910 disease -UMLS:C0024623 MONDO:0001056, MONDO:0021085 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0029574 MONDO:0005093 integumentary system disorder,human disease,disease -UMLS:C3711387 MONDO:0016660 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4518356 MONDO:0017886 renal cell carcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0265780 MONDO:0020110 respiratory system disorder,human disease,disease -UMLS:C4024448 disease -UMLS:C0162309 MONDO:0018544 X-linked disease,hereditary disease,human disease,disease -UMLS:C1848553 MONDO:0010185 methylmalonic aciduria and homocystinuria,methylmalonic acidemia,inborn organic aciduria,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4757950 MONDO:0014471 combined oxidative phosphorylation deficiency,mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0220662 MONDO:0015240, MONDO:0019942, MONDO:0007157 multiple congenital anomalies/dysmorphic syndrome without intellectual disability,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0034050 MONDO:0001437 lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C3838076 MONDO:0100167 inherited disease susceptibility,disease susceptibility -UMLS:C3806583 disease -UMLS:C2678476 MONDO:0012744 left ventricular noncompaction,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2673913 MONDO:0008787, MONDO:0000104 anemia, hypochromic microcytic with iron overload,hypochromic microcytic anemia,microcytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C2751682 MONDO:0700041 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C1862151 MONDO:0007215 brachydactyly,hereditary disease,human disease,disease -UMLS:C4014742 MONDO:0014408 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,hydrocephalus,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5543531 MONDO:0023662 lymphatic malformation,hereditary disease,human disease,disease -UMLS:C3711384 MONDO:0015352 neuronopathy, distal hereditary motor, autosomal dominant,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1858050 MONDO:0011498 schizophrenia, susceptibility to,inherited disease susceptibility,disease susceptibility -UMLS:C0162674 MONDO:0019016, MONDO:0005181 inborn mitochondrial myopathy,congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C3888631 MONDO:0015967 diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0085084 MONDO:0008780, MONDO:0011223, MONDO:0011436, MONDO:0007103, MONDO:0020128 juvenile amyotrophic lateral sclerosis,familial amyotrophic lateral sclerosis,amyotrophic lateral sclerosis,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0242698 disease -UMLS:C0862030 MONDO:0004947 acute lymphoblastic leukemia,precursor lymphoblastic lymphoma/leukemia,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1879677 disease -UMLS:C0392400 MONDO:0006292 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4707848 MONDO:0014403 non-acquired pituitary hormone deficiency,pituitary deficiency,endocrine system disorder,human disease,disease -UMLS:C5681844 MONDO:0019220 inborn vitamin metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0155773 MONDO:0001339, MONDO:0019431 thrombotic disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C2985290 MONDO:0000408 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5193056 MONDO:0100092 myoclonus, familial,movement disorder,nervous system disorder,human disease,disease -UMLS:C2873848 MONDO:0009006, MONDO:0013421, MONDO:0013422, MONDO:0013445, MONDO:0013720 classic complement early component deficiency,complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C4748694 MONDO:0032599 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0154409 MONDO:0002009 depressive disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0024796 MONDO:0007947 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0020450 MONDO:0006791 pregnancy disorder,obstetric disorder,human disease,disease -UMLS:C3806153 MONDO:0008787, MONDO:0000104, MONDO:0000387 anemia, hypochromic microcytic with iron overload,hypochromic microcytic anemia,microcytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0020557 MONDO:0005347 metabolic disease,human disease,disease -UMLS:C0023449 MONDO:0004967 precursor lymphoblastic lymphoma/leukemia,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2931743 MONDO:0013047 disorder of glycogen metabolism,inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0007124 MONDO:0005023 adenocarcinoma in situ,in situ carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0016788 MONDO:0009254 oligosaccharidosis,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1836830 disease -UMLS:C4707333 MONDO:0017190 paraganglioma,autonomic nervous system neoplasm,autonomic nervous system disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0036346 MONDO:0957430 schizophrenia,psychotic disorder,cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C1846529 MONDO:0012464 cone-rod dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C4693899 MONDO:0033373 developmental and epileptic encephalopathy,epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0007193 MONDO:0012062, MONDO:0010951, MONDO:0011003, MONDO:0011094, MONDO:0011095, MONDO:0013147, MONDO:0013168, MONDO:0013198, MONDO:0013211, MONDO:0011400, MONDO:0011425, MONDO:0011482, MONDO:0011567, MONDO:0011702, MONDO:0011840, MONDO:0012362, MONDO:0012364, MONDO:0014396, MONDO:0013261, MONDO:0013262, MONDO:0013339, MONDO:0013371, MONDO:0013373, MONDO:0013479, MONDO:0012667, MONDO:0012704, MONDO:0013848, MONDO:0005021, MONDO:0012744, MONDO:0012745, MONDO:0012746, MONDO:0012808, MONDO:0014073, MONDO:0014095, MONDO:0014100, MONDO:0013030 familial dilated cardiomyopathy,dilated cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5779825 MONDO:0009068, MONDO:0957524 mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C5190809 MONDO:0011537 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1842180 MONDO:0012016 hereditary disease,human disease,disease -UMLS:C0342381 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2936904 MONDO:0017138, MONDO:0010222 syndromic disease,human disease,disease -UMLS:C5829558 MONDO:0859477 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C1319315 MONDO:0005008 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0002871 MONDO:0002280 hematologic disorder,human disease,disease -UMLS:C0029595 MONDO:0019254 inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1861297 disease -UMLS:C5774266 MONDO:0859328 familial primary hypomagnesemia,inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0206062 MONDO:0015925 lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C5779628 MONDO:0006547 skin disorder,integumentary system disorder,human disease,disease -UMLS:C0009447 MONDO:0015517 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C1858592 MONDO:0011424 multiple polyglandular tumor,polyendocrinopathy,endocrine system disorder,human disease,disease -UMLS:C4305240 MONDO:0016833 partial deletion of the long arm of chromosome 14,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C0472792 disease -UMLS:C0238062 MONDO:0017574 intestinal pseudo-obstruction,ileus,intestinal obstruction,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C2713368 MONDO:0018881 myeloid hemopathy,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1867439 MONDO:0008339 dermis disorder,skin disorder,integumentary system disorder,human disease,disease -UMLS:C4722277 MONDO:0020765 neuropathy, congenital hypomelinating,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1862373 MONDO:0007180 hereditary disease,human disease,disease -UMLS:C0020517 MONDO:0005271, MONDO:0000605 hypersensitivity reaction disease,immune system disorder,human disease,disease -UMLS:C0221060 MONDO:0014296, MONDO:0008006, MONDO:0013638, MONDO:0013641, MONDO:0010822 Warburg micro syndrome,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0018802 MONDO:0005252, MONDO:0005009 heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0019061 MONDO:0001549 blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C0003949 MONDO:0016466 pneumoconiosis,interstitial lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0038131 MONDO:0000723 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0008780 MONDO:0016575 syndromic disease,human disease,disease -UMLS:C0236780 MONDO:0004985 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0394006 MONDO:0009133 syndromic disease,human disease,disease -UMLS:C0270824 MONDO:0001386 visual cortex disorder,visual pathway disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0206245 MONDO:0007100 hereditary amyloidosis,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0266589 MONDO:0007500 hereditary disease,human disease,disease -UMLS:C1274834 MONDO:0019725 systemic lupus erythematosus,lupus erythematosus,rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C4273714 MONDO:0019006 familial nephrotic syndrome,nephrotic syndrome,syndromic disease,human disease,disease -UMLS:C0162359 MONDO:0016535, MONDO:0019287, MONDO:0010585 ectodermal dysplasia syndrome,syndromic disease,human disease,disease -UMLS:C5774259 MONDO:0859321 mitochondrial complex III deficiency, nuclear type,mitochondrial complex III deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1865019 MONDO:0012313, MONDO:0000453 short QT syndrome,heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C5551904 MONDO:0012295, MONDO:0017787 classic complement early component deficiency,complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C1970180 MONDO:0012622 mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C4025870 disease -UMLS:C0338585 MONDO:0004763 carotid artery disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C4022699 disease -UMLS:C0026272 MONDO:0005854 rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C0026267 MONDO:0004910 mitral valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0239998 disease -UMLS:C5681834 MONDO:0018462 Angelman syndrome,syndromic disease,human disease,disease -UMLS:C1859722 MONDO:0008822, MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome,syndromic disease,human disease,disease -UMLS:C4551675 MONDO:0006590 keratosis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0017612 MONDO:0005338 glaucoma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C4016056 disease -UMLS:C0018566 disease -UMLS:C0026769 MONDO:0005301 autoimmune disorder of central nervous system,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1333813 MONDO:0002999, MONDO:0004216 central nervous system cancer,nervous system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0036439 MONDO:0005392 disease of bone structure,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1861922 MONDO:0007251 endocrine system disorder,human disease,disease -UMLS:C0221358 disease -UMLS:C3810405 MONDO:0014333, MONDO:0020340 bilateral perisylvian polymicrogyria,bilateral polymicrogyria,polymicrogyria,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2678503 MONDO:0011233, MONDO:0019187 Axenfeld-Rieger syndrome,syndromic disease,human disease,disease -UMLS:C0546264 MONDO:0002921, MONDO:0009711, MONDO:0800341 congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0009207 MONDO:0016006 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1848201 MONDO:0013415, MONDO:0020491 chromosome 17p deletion,partial deletion of chromosome 17,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C0494158 MONDO:0002367 malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0011881 MONDO:0005016 metabolic disease,human disease,disease -UMLS:C1561643 MONDO:0005300, MONDO:0024327 kidney disorder,urinary system disorder,human disease,disease -UMLS:C0014116 MONDO:0020290 heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C4016425 disease -UMLS:C0013720 MONDO:0020066 syndromic disease,human disease,disease -UMLS:C0025312 MONDO:0017069, MONDO:0019773 isolated spina bifida,spina bifida,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0014544 MONDO:0005027 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3640024 disease -UMLS:C0001733 MONDO:0008737 familial dysfibrinogenemia,congenital fibrinogen deficiency,coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C2750509 MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium,syndromic disease,human disease,disease -UMLS:C0031106 MONDO:0008226 chronic periodontitis,periodontitis,periodontal disorder,tooth disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0151699 disease -UMLS:C0001824 MONDO:0001609, MONDO:0015134, MONDO:0018542 leukopenia,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0265287 MONDO:0007055 acromelic dysplasia,skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C1848519 MONDO:0010192, MONDO:0019518 Waardenburg-Shah syndrome,Waardenburg syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0175700 MONDO:0008518, MONDO:0017923 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0027709 MONDO:0001567 calcinosis,calcium metabolic disease,mineral metabolism disease,metabolic disease,human disease,disease -UMLS:C0265226 MONDO:0008016 distal arthrogryposis,hereditary disease,human disease,disease -UMLS:C0021051 MONDO:0003778, MONDO:0021094 immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0022521 MONDO:0016575 syndromic disease,human disease,disease -UMLS:C4016299 disease -UMLS:C5676973 MONDO:0030800 progressive familial intrahepatic cholestasis,syndromic disease,human disease,disease -UMLS:C3280378 MONDO:0013675 fatal multiple mitochondrial dysfunctions syndrome,inherited lipoic acid biosynthesis defect,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1956349 MONDO:0005620 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5677001 MONDO:0859257 autosomal dominant dopa-responsive dystonia,dopa-responsive dystonia,metabolic disease,human disease,disease -UMLS:C1313885 MONDO:0019313 hereditary disease,human disease,disease -UMLS:C1301355 MONDO:0006311, MONDO:0020077 myeloproliferative neoplasm,myeloid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0751528 MONDO:0000723 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0007103 MONDO:0011962 uterine cancer,female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0730290 MONDO:0000455 hereditary macular dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C4706415 MONDO:0014159 autosomal recessive cerebellar ataxia,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4023814 disease -UMLS:C0431904 MONDO:0017426 non-syndromic polydactyly,polydactyly,hereditary disease,human disease,disease -UMLS:C5442191 disease -UMLS:C0268149 MONDO:0009865 disorder of glycogen metabolism,inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0027765 MONDO:0005071 human disease,disease -UMLS:C0020534 disease -UMLS:C0009691 MONDO:0010948, MONDO:0011015, MONDO:0011060, MONDO:0011104, MONDO:0011162, MONDO:0008925, MONDO:0011413, MONDO:0011547, MONDO:0011587, MONDO:0011591, MONDO:0012260, MONDO:0011808, MONDO:0012336, MONDO:0012395, MONDO:0012437, MONDO:0012489, MONDO:0012527, MONDO:0014565, MONDO:0014673, MONDO:0014799, MONDO:0013411, MONDO:0013744, MONDO:0012665, MONDO:0012688, MONDO:0012701, MONDO:0013859, MONDO:0007278, MONDO:0007279, MONDO:0007280, MONDO:0007281, MONDO:0007282, MONDO:0007283, MONDO:0007284, MONDO:0007285, MONDO:0007286, MONDO:0007287, MONDO:0007288, MONDO:0007289, MONDO:0007290, MONDO:0014075, MONDO:0014110, MONDO:0014111, MONDO:0013067, MONDO:0100436, MONDO:0010544 early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0344925 disease -UMLS:C0022593 MONDO:0006566 skin disorder,integumentary system disorder,human disease,disease -UMLS:C1864839 MONDO:0012513 maturity-onset diabetes of the young,monogenic diabetes,diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C1841837 disease -UMLS:C1860808 MONDO:0014221 glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C1327918 MONDO:0007836 hereditary disease,human disease,disease -UMLS:C0028878 MONDO:0008770, MONDO:0008771, MONDO:0008772, MONDO:0013181, MONDO:0007538, MONDO:0014385, MONDO:0014540, MONDO:0014560, MONDO:0007092, MONDO:0007093, MONDO:0007094, MONDO:0013906, MONDO:0019367, MONDO:0012926, MONDO:0010521, MONDO:0010522 amelogenesis imperfecta type 1,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C4310808 MONDO:0012205, MONDO:0000211 striatal degeneration, autosomal dominant,striatonigral degeneration,multiple system atrophy,synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0338480 MONDO:0100431 migraine disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0016522 MONDO:0020439 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0149512 MONDO:0005961 paranasal sinus disorder,nasal disorder,otorhinolaryngologic disease,human disease,disease -UMLS:C0035412 MONDO:0005212 soft tissue sarcoma,sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2910340 MONDO:0008831, MONDO:0009894, MONDO:0013127, MONDO:0014284, MONDO:0014287, MONDO:0014577, MONDO:0013441, MONDO:0013569, MONDO:0013717, MONDO:0018770, MONDO:0014214 Jeune syndrome,ciliopathy,hereditary disease,human disease,disease -UMLS:C5436695 MONDO:0033646 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0023283 MONDO:0005446 leishmaniasis,protozoa infectious disease,parasitic infectious disease,infectious disease,human disease,disease -UMLS:C5568802 MONDO:0018777 hypertrichosis,disorder of pilosebaceous unit,integumentary system disorder,human disease,disease -UMLS:C0003910 MONDO:0002903 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0153459 MONDO:0009831 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0751688 MONDO:0002532, MONDO:0005096 epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1854882 disease -UMLS:C4747989 MONDO:0054700 proteosome-associated autoinflammatory syndrome,immune system disorder,human disease,disease -UMLS:C4551647 MONDO:0019171, MONDO:0100316 long QT syndrome,syndromic disease,human disease,disease -UMLS:C1847800 MONDO:0008670, MONDO:0018094 Waardenburg syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0679362 MONDO:0000368 tuberculosis,primary bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0003504 MONDO:0005648 aortic valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1848207 disease -UMLS:C1832978 MONDO:0010967 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0024433 MONDO:0013300 facial cleft,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0007787 MONDO:0005264 brain ischemia,ischemic disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0022548 MONDO:0005348 reactive cutaneous fibrous lesion,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0235032 MONDO:0005527 nervous system disorder,human disease,disease -UMLS:C4706871 MONDO:0014332 disorder of gluconeogenesis,glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C5774232 MONDO:0859298 neurodevelopmental disorder,nervous system disorder,human disease,disease -UMLS:C1845292 MONDO:0010351 Fanconi anemia,congenital anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0032617 disease -UMLS:C0008489 MONDO:0001595, MONDO:0010327 movement disorder,nervous system disorder,human disease,disease -UMLS:C1856892 MONDO:0009202 hereditary lethal multiple congenital anomalies/dysmorphic syndrome,disorder of development or morphogenesis,human disease,disease -UMLS:C0600519 disease -UMLS:C4228778 disease -UMLS:C1332355 MONDO:0016264 autoimmune disorder of endocrine system,endocrine system disorder,human disease,disease -UMLS:C5680922 MONDO:0016475 Beckwith-Wiedemann syndrome,hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0015230 MONDO:0006547 skin disorder,integumentary system disorder,human disease,disease -UMLS:C0041671 MONDO:0005302 attention deficit-hyperactivity disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0751036 MONDO:0019011, MONDO:0015626 Charcot-Marie-Tooth disease,hereditary peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2931816 MONDO:0015566 partial deletion of the long arm of chromosome 2,partial deletion of chromosome 2,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C3665386 disease -UMLS:C0344315 disease -UMLS:C0016057 MONDO:0005164 fibroblastic neoplasm,mesenchymal cell neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1834751 disease -UMLS:C0021400 MONDO:0005812 viral respiratory tract infection,viral infectious disease,infectious disease,human disease,disease -UMLS:C0001768 MONDO:0015977 B cell deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0024117 MONDO:0005002 obstructive lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C5193057 MONDO:0032705 disorder of folate metabolism and transport,disorder of vitamin and non-protein cofactor absorption and transport,disorder of metabolite absorption and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0740394 disease -UMLS:C1136210 MONDO:0018059 meningococcal infection,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0751753 MONDO:0009376 urea cycle disorder or inherited hyperammonemia,urea cycle disorder,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0334239 MONDO:0000402 neuroendocrine carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4255043 MONDO:0000170 isolated microphthalmia,hereditary disease,human disease,disease -UMLS:C1404173 MONDO:0017436 hereditary disease,human disease,disease -UMLS:C0003467 MONDO:0001942, MONDO:0011918 anxiety disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0024305 MONDO:0018908 lymphoma,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0678807 disease -UMLS:C5774278 MONDO:0859340 autosomal dominant cerebellar ataxia,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4225304 MONDO:0014668 fatal infantile encephalocardiomyopathy,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0028960 MONDO:0001913 male infertility,male reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C2749215 MONDO:0010218 46,XX testicular disorder of sex development,46,XX disorder of sex development,disorder of sexual differentiation,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C4014918 MONDO:0014450 isolated congenital breast hypoplasia/aplasia,breast disorder,human disease,disease -UMLS:C4273672 MONDO:0016411 central congenital hypothyroidism,permanent congenital hypothyroidism,hereditary endocrine growth disease,endocrine system disorder,human disease,disease -UMLS:C1868111 MONDO:0008272 non-syndromic synpolydactyly,non-syndromic syndactyly,syndactyly,hereditary disease,human disease,disease -UMLS:C1720861 MONDO:0011448, MONDO:0020088 familial partial lipodystrophy,hereditary lipodystrophy,lipodystrophy,metabolic disease,human disease,disease -UMLS:C0009319 MONDO:0005292, MONDO:0005534 gastroenteritis,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0751527 MONDO:0000723 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4748838 MONDO:0032634 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0153574 MONDO:0006003 uterine cancer,female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0001308 MONDO:0002251 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0520575 MONDO:0003529 pyelonephritis,uterine inflammatory disease,uterine disorder,female reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C4746985 MONDO:0026721 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0149925 MONDO:0008433 small cell carcinoma,neuroendocrine carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0026846 MONDO:0004323 myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0796204 MONDO:0008503 nervous system disorder,human disease,disease -UMLS:C5680250 disease -UMLS:C1854449 MONDO:0011534 motor peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0022661 MONDO:0004375, MONDO:0005300, MONDO:0024327 chronic kidney disease,kidney disorder,urinary system disorder,human disease,disease -UMLS:C1836230 MONDO:0004951 inherited disease susceptibility,disease susceptibility -UMLS:C0014877 MONDO:0004896 strabismus,ocular motility disease,cranial nerve neuropathy,nervous system disorder,human disease,disease -UMLS:C0750935 MONDO:0021633, MONDO:0021636, MONDO:0019781 neoplasm of cerebral hemisphere,brain neoplasm,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5436685 MONDO:0033637 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0917796 MONDO:0010788 eye degenerative disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C3150899 MONDO:0013340 inherited disease susceptibility,disease susceptibility -UMLS:C0041955 MONDO:0001398, MONDO:0008627, MONDO:0021111 benign urinary system neoplasm,benign neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0520679 MONDO:0007147 syndromic disease,human disease,disease -UMLS:C0042164 MONDO:0020283 uveal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0012236 MONDO:0008564, MONDO:0018923 congenital T-cell immunodeficiency,T-cell immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0151779 MONDO:0005012 skin cancer,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C2931136 disease -UMLS:C0271694 MONDO:0020088 hereditary lipodystrophy,lipodystrophy,metabolic disease,human disease,disease -UMLS:C0003838 MONDO:0005294 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0018781 MONDO:0013098 hearing loss disorder,hearing disorder,auditory system disorder,human disease,disease -UMLS:C0157917 MONDO:0011429 rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C0079485 MONDO:0002869 heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0036572 MONDO:0001386 visual cortex disorder,visual pathway disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0338106 MONDO:0005401, MONDO:0002271 colonic disorder,large intestine disorder,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0027066 disease -UMLS:C0162871 MONDO:0005350 aortic aneurysm,aortic disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C1854021 MONDO:0011587, MONDO:0020372 early-onset sutural cataract,early-onset zonular cataract,early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C3549845 MONDO:0007829 familial intrahepatic cholestasis,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0086438 MONDO:0015977, MONDO:0016463 B cell deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C1335062 MONDO:0003316, MONDO:0019004 kidney Wilms tumor,kidney cancer,malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0014550 MONDO:0016022 neonatal period electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0040336 MONDO:0008575 drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0018995 MONDO:0001436, MONDO:0006507 iron metabolism disease,mineral metabolism disease,metabolic disease,human disease,disease -UMLS:C1262477 disease -UMLS:C0029463 MONDO:0002629, MONDO:0009807 osteosarcoma,sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0338488 MONDO:0016241 hemiplegia,palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1275278 MONDO:0012825 soft tissue sarcoma,sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0024624 MONDO:0008903 respiratory system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4021726 disease -UMLS:C0008043 MONDO:0024305, MONDO:0043226 hyperprolactinemia,hyperpituitarism,anterior pituitary gland disorder,pituitary gland disorder,reproductive system disorder,human disease,disease -UMLS:C1704375 MONDO:0000044, MONDO:0024300 hereditary disease,human disease,disease -UMLS:C0154830 MONDO:0001660 diabetic retinopathy,retinal vascular disorder,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0348617 MONDO:0000908, MONDO:0011188, MONDO:0011189, MONDO:0012180, MONDO:0011459, MONDO:0011460, MONDO:0011484, MONDO:0011831, MONDO:0012434, MONDO:0012506, MONDO:0012684 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0344523 MONDO:0007279, MONDO:0020374 cerulean cataract,early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0521620 disease -UMLS:C0012715 MONDO:0002279, MONDO:0011012, MONDO:0021001, MONDO:0014225 mineral metabolism disease,metabolic disease,human disease,disease -UMLS:C5231404 MONDO:0032807 Mendelian neurodevelopmental disorder,hereditary neurological disease,hereditary disease,human disease,disease -UMLS:C0342881 MONDO:0018328 familial hypercholesterolemia,familial hyperlipidemia,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C5394371 MONDO:0030036 hereditary disease,human disease,disease -UMLS:C0349217 MONDO:0002050 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0432195 MONDO:0008831, MONDO:0009894, MONDO:0013127, MONDO:0014284, MONDO:0014287, MONDO:0014577, MONDO:0013441, MONDO:0013569, MONDO:0013717, MONDO:0018770, MONDO:0019691, MONDO:0014214 Jeune syndrome,ciliopathy,hereditary disease,human disease,disease -UMLS:C0162666 MONDO:0004675 inborn mitochondrial myopathy,congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0014175 MONDO:0005133 endometrial disorder,uterine disorder,female reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C0339527 MONDO:0018998 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3710589 MONDO:0015753 alpha-actinopathy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0022340 MONDO:0008767, MONDO:0008768, MONDO:0008769, MONDO:0009744, MONDO:0009745, MONDO:0011144, MONDO:0012188, MONDO:0012391, MONDO:0012414, MONDO:0012588, MONDO:0008083, MONDO:0013866, MONDO:0015674, MONDO:0014147, MONDO:0016295, MONDO:0010830 juvenile neuronal ceroid lipofuscinosis,neuronal ceroid lipofuscinosis,lysosomal lipid storage disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1408182 MONDO:0000902, MONDO:0012096, MONDO:0011085, MONDO:0011091, MONDO:0011113, MONDO:0013212, MONDO:0011527, MONDO:0011534, MONDO:0011633, MONDO:0011687, MONDO:0012231, MONDO:0012250, MONDO:0011894, MONDO:0011901, MONDO:0011902, MONDO:0011903, MONDO:0011916, MONDO:0014467, MONDO:0014566, MONDO:0014733, MONDO:0014735, MONDO:0014866, MONDO:0013338, MONDO:0013644, MONDO:0013753, MONDO:0013758, MONDO:0012640, MONDO:0007307, MONDO:0007308, MONDO:0007309, MONDO:0007311, MONDO:0013959, MONDO:0014012, MONDO:0014074, MONDO:0014117, MONDO:0014154, MONDO:0010479, MONDO:0014208, MONDO:0010549, MONDO:0010689, MONDO:0010699 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0010246 MONDO:0005721 enterovirus infectious disease,Picornaviridae infectious disease,primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C0038325 MONDO:0018229 syndromic disease,human disease,disease -UMLS:C0035304 MONDO:0004580 retinal disorder,nervous system disorder,human disease,disease -UMLS:C0002452 MONDO:0008770, MONDO:0008771, MONDO:0008772, MONDO:0013181, MONDO:0007538, MONDO:0014385, MONDO:0014540, MONDO:0014560, MONDO:0007092, MONDO:0007093, MONDO:0007094, MONDO:0013906, MONDO:0019507, MONDO:0012926, MONDO:0010521, MONDO:0010522 amelogenesis imperfecta type 1,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C1850451 MONDO:0009744, MONDO:0016295 neuronal ceroid lipofuscinosis,lysosomal lipid storage disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0001418 MONDO:0004970 carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2751642 MONDO:0013092 glioma susceptibility,hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C4014291 MONDO:0014342, MONDO:0014769 inherited oocyte maturation defect,hereditary disease,human disease,disease -UMLS:C3668822 MONDO:0000437 cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0043094 disease -UMLS:C0001175 MONDO:0012268, MONDO:0017769 T-cell immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0039231 disease -UMLS:C0037926 disease -UMLS:C0022104 MONDO:0005052 syndromic disease,human disease,disease -UMLS:C1956346 MONDO:0005010 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0280803 MONDO:0002571 immune system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0270210 MONDO:0009383 hereditary hyperbilirubinemia,inborn disorder of bilirubin metabolism,inborn disorder of porphyrin metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1273070 disease -UMLS:C0023645 MONDO:0018879 alopecia,hair anomaly,disorder of pilosebaceous unit,integumentary system disorder,human disease,disease -UMLS:C0596263 disease -UMLS:C0013363 MONDO:0021809, MONDO:0044872 dysautonomia,autonomic nervous system disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5193074 MONDO:0032725 developmental and epileptic encephalopathy,epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0153414 MONDO:0007576 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0151691 MONDO:0017773 metabolic disease,human disease,disease -UMLS:C1854128 disease -UMLS:C0023772 MONDO:0002525 inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C3810042 MONDO:0014266 age related macular degeneration, susceptibility to,inherited disease susceptibility,disease susceptibility -UMLS:C5543482 MONDO:0859159 hereditary disease,human disease,disease -UMLS:C0043020 MONDO:0043280 nervous system disorder,human disease,disease -UMLS:C4225351 MONDO:0014606 syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0085762 MONDO:0002046 substance abuse,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C5190597 MONDO:0018320 syndromic disease,human disease,disease -UMLS:C3160814 disease -UMLS:C0887833 MONDO:0005184 tubular adenocarcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0338656 disease -UMLS:C0220669 MONDO:0011904, MONDO:0016027 benign familial infantile epilepsy,infancy electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5436769 MONDO:0033644 hereditary disease,human disease,disease -UMLS:C4746984 MONDO:0026720 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0029172 MONDO:0018166 mouth disorder,human disease,disease -UMLS:C0079583 disease -UMLS:C1970028 MONDO:0021024 inherited disease susceptibility,disease susceptibility -UMLS:C0041834 disease -UMLS:C5436576 MONDO:0033560 hereditary disease,human disease,disease -UMLS:C0036337 MONDO:0005487 psychotic disorder,cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C0039070 disease -UMLS:C0162534 MONDO:0005429, MONDO:0018926 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3149117 disease -UMLS:C0018790 MONDO:0000745 cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0011269 MONDO:0004648 dementia,cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C3279991 MONDO:0800001 inherited disease susceptibility,disease susceptibility -UMLS:C1853198 MONDO:0012467, MONDO:0010091 cold-induced sweating syndrome,cold-induced sweating syndrome - hyperthermia spectrum,hereditary sensory and autonomic neuropathy,sensory peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0151313 MONDO:0002321 peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1842462 disease -UMLS:C1854416 MONDO:0011537 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1869114 MONDO:0018096 autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0038868 MONDO:0019037 syndromic disease,human disease,disease -UMLS:C0010036 MONDO:0018102 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C4540040 MONDO:0054739 Fraser syndrome,syndromic disease,human disease,disease -UMLS:C4551714 MONDO:0015993 inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C2677770 MONDO:0012771 inherited susceptibility to asthma,inherited disease susceptibility,disease susceptibility -UMLS:C0022387 MONDO:0002441 familial long QT syndrome,long QT syndrome,syndromic disease,human disease,disease -UMLS:C3810404 MONDO:0014332 disorder of gluconeogenesis,glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C3489532 MONDO:0007362, MONDO:0015993 cone-rod dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0023481 MONDO:0019451 chronic leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3151519 MONDO:0009667 muscular dystrophy-dystroglycanopathy, type A,muscular dystrophy-dystroglycanopathy,congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1368295 MONDO:0005341 skin squamous cell carcinoma,skin carcinoma,skin cancer,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C0028738 MONDO:0004843 ocular motility disease,cranial nerve neuropathy,nervous system disorder,human disease,disease -UMLS:C0376634 disease -UMLS:C0026848 MONDO:0005336, MONDO:0003939, MONDO:0020120 skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5779613 MONDO:0008779, MONDO:0015168, MONDO:0015225 movement disorder,nervous system disorder,human disease,disease -UMLS:C0741160 MONDO:0005160 aortic disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0220998 MONDO:0010140 hereditary disease,human disease,disease -UMLS:C0008073 MONDO:0005287 nervous system disorder,human disease,disease -UMLS:C0002418 MONDO:0001020 vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C0751039 MONDO:0019569, MONDO:0016006 Cockayne syndrome,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1864818 MONDO:0012326 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0027658 disease -UMLS:C4748770 MONDO:0032618 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0023492 MONDO:0005525, MONDO:0004963 leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0343055 MONDO:0013626, MONDO:0100491 psoriasis,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3502075 MONDO:0017338 inherited lipoic acid biosynthesis defect,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1415817 MONDO:0011546, MONDO:0018677 transposition of the great arteries,congenital heart malformation,congenital anomaly of cardiovascular system,cardiovascular disorder,human disease,disease -UMLS:C0035235 MONDO:0001577 Mononegavirales infectious disease,primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C0270458 disease -UMLS:C5680294 MONDO:0020437 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1260926 disease -UMLS:C3694279 MONDO:0005719, MONDO:0100116 Coronaviridae infectious disease,Nidovirales infectious disease,primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C0432197 MONDO:0013127 Jeune syndrome,ciliopathy,hereditary disease,human disease,disease -UMLS:C3279664 MONDO:0013540, MONDO:0013607 syndromic disease,human disease,disease -UMLS:C4539997 MONDO:0033200 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0034067 MONDO:0004849 chronic obstructive pulmonary disease,obstructive lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0011581 MONDO:0001442, MONDO:0002050 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0018816 MONDO:0002078 congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0399376 MONDO:0007538, MONDO:0968955 hypocalcified amelogenesis imperfecta,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C5399761 MONDO:0008926 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0038525 MONDO:0005099 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1859049 MONDO:0020493, MONDO:0800026 intestinal motility disease,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C2711630 MONDO:0015131 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0149630 MONDO:0007194 aortic valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1691215 disease -UMLS:C0042900 MONDO:0008661 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0024809 MONDO:0005689 drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C2751307 MONDO:0013130 isolated microphthalmia,hereditary disease,human disease,disease -UMLS:C0581391 disease -UMLS:C0009324 MONDO:0005101 colitis,gastroenteritis,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0008370 MONDO:0001751 bile duct disorder,biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C4551968 MONDO:0013415, MONDO:0010239 chromosome 17p deletion,partial deletion of chromosome 17,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C2243051 disease -UMLS:C5568976 MONDO:0010392 disorder of glycogen metabolism,inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1838703 MONDO:0017919, MONDO:0700039 kidney disorder,urinary system disorder,human disease,disease -UMLS:C0041696 MONDO:0002009, MONDO:0002050, MONDO:0012048 depressive disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0158450 MONDO:0005380 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0029792 MONDO:0005303 substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0393770 MONDO:0024361, MONDO:0024377 sleep-wake disorder,sleep disorder,nervous system disorder,human disease,disease -UMLS:C0009376 MONDO:0021400 colonic disorder,large intestine disorder,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0018818 MONDO:0002070 heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0477983 MONDO:0000733 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0032285 MONDO:0005249 respiratory tract infectious disorder,respiratory system disorder,human disease,disease -UMLS:C0751495 MONDO:0001386 visual cortex disorder,visual pathway disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0348371 MONDO:0006295 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0029839 MONDO:0005492 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0019562 MONDO:0008667 neurocutaneous syndrome,nervous system disorder,human disease,disease -UMLS:C0236811 disease -UMLS:C0393593 MONDO:0003441 extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C5396362 disease -UMLS:C0042580 MONDO:0006007 ureteral disorder,urinary system disorder,human disease,disease -UMLS:C0009460 MONDO:0002182 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0588008 disease -UMLS:C0006870 MONDO:0005689 drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0022797 MONDO:0008767, MONDO:0008768, MONDO:0008769, MONDO:0009744, MONDO:0009745, MONDO:0011144, MONDO:0012188, MONDO:0012391, MONDO:0012414, MONDO:0012588, MONDO:0008083, MONDO:0013866, MONDO:0019260, MONDO:0014147, MONDO:0016295, MONDO:0010830 juvenile neuronal ceroid lipofuscinosis,neuronal ceroid lipofuscinosis,lysosomal lipid storage disorder,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0206669 MONDO:0018902 benign digestive system neoplasm,digestive system disorder,human disease,disease -UMLS:C0007781 disease -UMLS:C1848702 disease -UMLS:C3280527 MONDO:0013700 pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0007758 MONDO:0000437 cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0264774 MONDO:0001298, MONDO:0005648 vascular insufficiency disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0029408 MONDO:0005178 arthritic joint disease,bone inflammation disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0241932 disease -UMLS:C2750075 MONDO:0013223 spondylometaphyseal dysplasia,skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C0403811 disease -UMLS:C3715164 MONDO:0014145 Leber congenital amaurosis,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1850343 MONDO:0009759, MONDO:0000141 mosaic variegated aneuploidy syndrome,hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0013581 MONDO:0015998 lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C4749284 MONDO:0007194 aortic valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0022116 MONDO:0005053 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C3280120 MONDO:0013623 inherited bleeding disorder, platelet-type,hemorrhagic disease,hematologic disorder,human disease,disease -UMLS:C5676963 MONDO:0030787 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C0266544 MONDO:0000733 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0152459 disease -UMLS:C0345030 disease -UMLS:C0039538 MONDO:0002601 nongerminomatous germ cell tumor,germ cell tumor,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3489728 MONDO:0100429 intrahepatic cholestasis,cholestasis,bile duct disorder,biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0023448 MONDO:0005402 leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0042514 MONDO:0005477, MONDO:0011484, MONDO:0013529, MONDO:0017990, MONDO:0012762, MONDO:0013966, MONDO:0014191 cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0020542 MONDO:0005149 hypertensive disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0008625 disease -UMLS:C5574948 MONDO:0005501 congenital disorder of glycosylation,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0153423 MONDO:0001056 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0848558 MONDO:0005345 hereditary disease,human disease,disease -UMLS:C0005974 MONDO:0000837 bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0085129 disease -UMLS:C1510586 MONDO:0005258 pervasive developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4552543 MONDO:0018702 autoimmune disease,immune system disorder,human disease,disease -UMLS:C3280783 MONDO:0013748 ventricular septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C4021762 disease -UMLS:C2675459 MONDO:0012967 familial hemolytic anemia,hemolytic anemia,normocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0023186 MONDO:0004681 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0236964 MONDO:0000495 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4748701 MONDO:0032600 hereditary disease,human disease,disease -UMLS:C0339985 MONDO:0018956 bronchiectasis,bronchial disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0235820 disease -UMLS:C0004943 MONDO:0007191 syndromic disease,human disease,disease -UMLS:C3808800 MONDO:0014075 early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0037997 MONDO:0002332 hematologic disorder,human disease,disease -UMLS:C1837618 MONDO:0012085 primary ciliary dyskinesia,syndromic disease,human disease,disease -UMLS:C0266617 disease -UMLS:C0423250 disease -UMLS:C5680331 disease -UMLS:C0156147 MONDO:0005532, MONDO:0005011 Crohn disease,inflammatory bowel disease,hereditary disease,human disease,disease -UMLS:C0018099 MONDO:0005393 metabolic disease,human disease,disease -UMLS:C0029124 MONDO:0003608 optic nerve disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1389018 MONDO:0020290, MONDO:0859565 heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0473527 MONDO:0017773 metabolic disease,human disease,disease -UMLS:C2675874 MONDO:0000724, MONDO:0012917 language disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C1970859 MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases,inherited susceptibility to mycobacterial diseases,inherited disease susceptibility,disease susceptibility -UMLS:C0241910 MONDO:0016264 autoimmune disorder of endocrine system,endocrine system disorder,human disease,disease -UMLS:C0154909 MONDO:0004773 ciliary body disorder,iris disorder,uveal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1854301 disease -UMLS:C0079731 MONDO:0004095, MONDO:0015759 leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0006845 MONDO:0015279 inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C4551825 MONDO:0009853, MONDO:0100156 megaloblastic anemia,macrocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0025202 MONDO:0005105 melanocytic neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0154536 MONDO:0003969 substance abuse,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C1843496 disease -UMLS:C5436505 MONDO:0033543 hereditary disease,human disease,disease -UMLS:C0427144 disease -UMLS:C5191007 MONDO:0014025 proximal spinal muscular atrophy,spinal muscular atrophy,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0017168 MONDO:0007186 esophageal disorder,digestive system disorder,human disease,disease -UMLS:C0027051 MONDO:0005068 myocardial disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C3146244 MONDO:0000395, MONDO:0000408 fetal alcohol spectrum disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0265677 disease -UMLS:C1857512 MONDO:0009033 hereditary disease,human disease,disease -UMLS:C0023518 disease -UMLS:C0009375 MONDO:0005401, MONDO:0002278 colonic disorder,large intestine disorder,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0031046 MONDO:0005904 pericardium disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C4748840 MONDO:0032636 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0149940 MONDO:0006960 mononeuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5548200 MONDO:0017353 glycine encephalopathy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0948031 disease -UMLS:C2748542 MONDO:0005449 muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1720958 MONDO:0011971, MONDO:0003947 hyper-IgM syndrome,hyperimmunoglobulin syndrome,B cell deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0741796 disease -UMLS:C5543176 MONDO:0030974 mitochondrial complex II deficiency, nuclear type,inborn mitochondrial myopathy,congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0282631 disease -UMLS:C0036220 MONDO:0005055 viral infectious disease,infectious disease,human disease,disease -UMLS:C0525041 disease -UMLS:C0268384 MONDO:0100552 amyloidosis, hereditary systemic 1,familial amyloid neuropathy,hereditary amyloidosis,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C2675722 disease -UMLS:C5700310 MONDO:0031230, MONDO:0100294 inborn mitochondrial myopathy,congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5562018 MONDO:0030473 developmental and epileptic encephalopathy,epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3805326 disease -UMLS:C2931478 disease -UMLS:C1844820 disease -UMLS:C5394232 MONDO:0030006 combined oxidative phosphorylation deficiency,mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0399367 MONDO:0015047, MONDO:0007094 amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C1332133 MONDO:0005566 substance withdrawal syndrome,syndromic disease,human disease,disease -UMLS:C3152144 MONDO:0020729, MONDO:0015977 autosomal agammaglobulinemia,isolated agammaglobulinemia,agammaglobulinemia,B cell deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0002103 MONDO:0011786 allergic respiratory disease,respiratory system disorder,human disease,disease -UMLS:C0234629 disease -UMLS:C2677794 MONDO:0017990, MONDO:0012762 heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0026985 disease -UMLS:C0264789 MONDO:0005217 cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1834674 MONDO:0008029, MONDO:0024530 progressive muscular dystrophy,muscular dystrophy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4748759 MONDO:0032611 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0014170 MONDO:0011962, MONDO:0021251 uterine cancer,female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3279092 disease -UMLS:C1865343 MONDO:0011230 skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0751436 MONDO:0009861, MONDO:0016543 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5774241 MONDO:0859305 neurodevelopmental disorder,nervous system disorder,human disease,disease -UMLS:C0008372 MONDO:0019072 cholestasis,bile duct disorder,biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0151786 disease -UMLS:C4551332 disease -UMLS:C4021768 disease -UMLS:C0751958 MONDO:0018876 aggressive B-cell non-Hodgkin lymphoma,B-cell non-Hodgkin lymphoma,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0029591 MONDO:0019245 inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0042769 MONDO:0005108 infectious disease,human disease,disease -UMLS:C3827273 disease -UMLS:C4551720 MONDO:0016575 syndromic disease,human disease,disease -UMLS:C0553980 MONDO:0006746 restrictive cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0268318 MONDO:0100429 intrahepatic cholestasis,cholestasis,bile duct disorder,biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C5543406 MONDO:0025701 leukodystrophy,inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3714618 MONDO:0004425 thyroid gland disorder,endocrine system disorder,human disease,disease -UMLS:C2750720 MONDO:0011987 cone-rod dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0034012 disease -UMLS:C0002726 MONDO:0019065 proteostasis deficiencies,metabolic disease,human disease,disease -UMLS:C5394051 MONDO:0032909 mitochondrial complex III deficiency, nuclear type,mitochondrial complex III deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0079758 MONDO:0018906 neoplasm of mature B-cells,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0033141 MONDO:0004994, MONDO:0005110 muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4225348 MONDO:0014611 eye degenerative disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C2751608 MONDO:0024464, MONDO:0013099 combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0854723 MONDO:0019118 retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0027819 MONDO:0005072 neuroblastic tumor,primitive neuroectodermal tumor,embryonal neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0014850 MONDO:0001044, MONDO:0008586 esophageal disorder,digestive system disorder,human disease,disease -UMLS:C4302878 MONDO:0010961 congenital hypogonadotropic hypogonadism,hypogonadotropic hypogonadism,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C2750078 MONDO:0013219, MONDO:0017324 autosomal recessive hypophosphatemic rickets,hereditary hypophosphatemic rickets,hereditary disease,human disease,disease -UMLS:C4510872 MONDO:0007173 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0268483 MONDO:0004741 disorder of tyrosine metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1859774 disease -UMLS:C0027888 MONDO:0000902, MONDO:0002316, MONDO:0012096, MONDO:0011085, MONDO:0011091, MONDO:0011113, MONDO:0013212, MONDO:0011527, MONDO:0011534, MONDO:0011633, MONDO:0011687, MONDO:0012231, MONDO:0012250, MONDO:0011894, MONDO:0011901, MONDO:0011902, MONDO:0011903, MONDO:0011916, MONDO:0014467, MONDO:0014566, MONDO:0014733, MONDO:0014735, MONDO:0014866, MONDO:0013338, MONDO:0013644, MONDO:0015358, MONDO:0013753, MONDO:0013758, MONDO:0012640, MONDO:0007307, MONDO:0007308, MONDO:0007309, MONDO:0007311, MONDO:0013959, MONDO:0015626, MONDO:0014012, MONDO:0014074, MONDO:0014117, MONDO:0014154, MONDO:0010479, MONDO:0014208, MONDO:0010549, MONDO:0010689, MONDO:0010699 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1854912 disease -UMLS:C5774279 MONDO:0859341 hypotrichosis,disorder of pilosebaceous unit,integumentary system disorder,human disease,disease -UMLS:C0496775 MONDO:0007576, MONDO:0021324 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0344516 MONDO:0020355 coloboma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0392470 MONDO:0008685 heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0006267 MONDO:0004822 bronchial disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0158731 disease -UMLS:C0032897 MONDO:0008300 syndromic disease,human disease,disease -UMLS:C5203670 MONDO:0100096 Orthocoronavirinae infectious disease,Coronaviridae infectious disease,Nidovirales infectious disease,primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C5200932 disease -UMLS:C3280785 MONDO:0013749 ventricular septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0349788 MONDO:0016587 intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2316810 MONDO:0004375 chronic kidney disease,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0031190 MONDO:0009934, MONDO:0022430 primary interstitial lung disease specific to childhood,interstitial lung disease specific to childhood,interstitial lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0948039 MONDO:0002842 gastritis,stomach disorder,digestive system disorder,human disease,disease -UMLS:C0010674 MONDO:0009061 respiratory system disorder,human disease,disease -UMLS:C2700405 MONDO:0012698, MONDO:0019517 Waardenburg syndrome type 2,Waardenburg syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0472803 MONDO:0016638 congenital afibrinogenemia,familial dysfibrinogenemia,congenital fibrinogen deficiency,coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C0238198 MONDO:0011719 hereditary disease,human disease,disease -UMLS:C4016054 MONDO:0017309 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C5190706 MONDO:0015801 coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C1867743 disease -UMLS:C1969810 MONDO:0011891 febrile seizures, familial,hereditary disease,human disease,disease -UMLS:C4748839 MONDO:0032635 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0428791 MONDO:0005463 aortic valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C3501848 MONDO:0002350 nephrotic syndrome,syndromic disease,human disease,disease -UMLS:C0556385 disease -UMLS:C0282577 MONDO:0015286 inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1855179 MONDO:0020373 early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0009080 MONDO:0006965 arthropathy,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0015393 disease -UMLS:C1836829 disease -UMLS:C0015672 disease -UMLS:C1837260 disease -UMLS:C0021846 MONDO:0005288 intestinal disorder,digestive system disorder,human disease,disease -UMLS:C4721414 MONDO:0018876 aggressive B-cell non-Hodgkin lymphoma,B-cell non-Hodgkin lymphoma,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0025990 disease -UMLS:C2677650 disease -UMLS:C0265264 MONDO:0008800, MONDO:0007732, MONDO:0009080 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1959582 MONDO:0007924, MONDO:0017623, MONDO:0016063 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C2874190 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0302592 MONDO:0005131 cervical cancer,uterine cancer,female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C5680525 MONDO:0000508 intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4274968 MONDO:0016342 familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1720860 MONDO:0007906, MONDO:0020088 familial partial lipodystrophy,hereditary lipodystrophy,lipodystrophy,metabolic disease,human disease,disease -UMLS:C3696898 MONDO:0020300 frontal lobe epilepsy,focal epilepsy,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0027794 MONDO:0018075 central nervous system malformation,nervous system disorder,human disease,disease -UMLS:C1836653 disease -UMLS:C4225217 MONDO:0014762 visceral heterotaxy,syndromic disease,human disease,disease -UMLS:C2676232 MONDO:0012908 classic complement early component deficiency,complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C4023354 disease -UMLS:C5568766 MONDO:0100038 neurodevelopmental disorder,nervous system disorder,human disease,disease -UMLS:C4693531 MONDO:0054752 multiple synostoses syndrome,synostosis,dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0079924 MONDO:0005881 placenta disorder,uterine disorder,female reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C4022814 disease -UMLS:C4014869 MONDO:0014431 abdominal obesity-metabolic syndrome,syndromic disease,human disease,disease -UMLS:C4016761 disease -UMLS:C0015934 MONDO:0005030 placenta disorder,uterine disorder,female reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C1301509 disease -UMLS:C0085628 disease -UMLS:C0085298 disease -UMLS:C4021806 disease -UMLS:C0557874 disease -UMLS:C0153567 MONDO:0002715 female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0432326 MONDO:0019307 junctional epidermolysis bullosa, non-Herlitz type,junctional epidermolysis bullosa,inherited epidermolysis bullosa,epidermolysis bullosa,vesiculobullous skin disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C1837249 disease -UMLS:C0085207 MONDO:0005406 diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C1285162 MONDO:0005559 central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0751830 disease -UMLS:C1868571 disease -UMLS:C3809483 MONDO:0000724, MONDO:0014184 language disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0278752 MONDO:0006292 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0007102 MONDO:0005401, MONDO:0021063 colonic disorder,large intestine disorder,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C5680453 MONDO:0015737 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0079301 MONDO:0017612 inherited epidermolysis bullosa,epidermolysis bullosa,vesiculobullous skin disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0265290 MONDO:0000138 Pyle disease,osteochondrodysplasia,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0340427 MONDO:0016333 dilated cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5575495 MONDO:0024770 autoinflammatory syndrome, familial, Behcet-like,autoinflammatory syndrome,syndromic disease,human disease,disease -UMLS:C0028326 MONDO:0018997 syndromic disease,human disease,disease -UMLS:C0005586 MONDO:0004985 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0157918 MONDO:0011429 rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C0087012 MONDO:0020380, MONDO:0000437 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4707308 MONDO:0015587 childhood-onset epilepsy syndrome,epilepsy syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0043202 MONDO:0008685 heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0153519 MONDO:0005089 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1834750 disease -UMLS:C3888523 MONDO:0031012 autoimmune disease of ear, nose and throat,autoimmune disease,immune system disorder,human disease,disease -UMLS:C4083008 MONDO:0007691, MONDO:0016218 Guillain-Barre syndrome,autoimmune disorder of peripheral nervous system,autoimmune disorder of the nervous system,nervous system disorder,human disease,disease -UMLS:C0023795 MONDO:0009530 inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4025596 disease -UMLS:C0019100 MONDO:0005358, MONDO:0000248 dengue disease,Flaviviridae infectious disease,primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C0271092 MONDO:0000455 hereditary macular dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C5567608 MONDO:0014728 combined oxidative phosphorylation deficiency,mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0039101 MONDO:0010434 soft tissue sarcoma,sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0278701 MONDO:0005036 gastric carcinoma,gastric cancer,digestive system cancer,digestive system disorder,human disease,disease -UMLS:C1621958 MONDO:0018177 high grade astrocytic tumor,astrocytic tumor,glioma,neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1858496 MONDO:0015609 circadian rhythm sleep disorder,sleep-wake disorder,sleep disorder,nervous system disorder,human disease,disease -UMLS:C0018801 MONDO:0005252, MONDO:0005009 heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0011884 MONDO:0005266 retinal vascular disorder,retinal disorder,nervous system disorder,human disease,disease -UMLS:C2750414 MONDO:0012239 intermediate nemaline myopathy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1168401 MONDO:0010150 head and neck carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0018273 MONDO:0015514 endocrine system disorder,human disease,disease -UMLS:C0013336 disease -UMLS:C4551649 MONDO:0000158 hereditary disease,human disease,disease -UMLS:C4748080 MONDO:0054847 epilepsy, familial adult myoclonic,early myoclonic encephalopathy,neonatal period electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2676723 MONDO:0012871 Jervell and Lange-Nielsen syndrome,familial long QT syndrome,long QT syndrome,syndromic disease,human disease,disease -UMLS:C1956130 MONDO:0018906 neoplasm of mature B-cells,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C1835671 MONDO:0007853 syndromic disease,human disease,disease -UMLS:C4016457 disease -UMLS:C0015379 disease -UMLS:C0162820 MONDO:0006525 atopic eczema,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C1112256 disease -UMLS:C1458140 MONDO:0002243 hematologic disorder,human disease,disease -UMLS:C0025362 MONDO:0001071 developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0206692 MONDO:0005051, MONDO:0000552 breast lobular carcinoma,breast adenocarcinoma,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C4025276 disease -UMLS:C1836383 MONDO:0008654, MONDO:0012247 congenital nystagmus,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0029707 MONDO:0002028 psychiatric disorder,human disease,disease -UMLS:C1847501 MONDO:0011724, MONDO:0000188 GLUT1 deficiency syndrome,metabolic epilepsy,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1861355 MONDO:0008515 non-syndromic syndactyly,syndactyly,hereditary disease,human disease,disease -UMLS:C0410528 MONDO:0018230 hereditary disease,human disease,disease -UMLS:C0162565 MONDO:0008294 hepatic porphyria,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0342282 MONDO:0008519, MONDO:0017923 multiple synostoses syndrome,synostosis,dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2676042 disease -UMLS:C0266464 MONDO:0000087 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4552078 MONDO:0009626, MONDO:0020789 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1846648 MONDO:0011790 thiamine-responsive dysfunction syndrome,disorder of thiamine metabolism and transport,disorder of vitamin and non-protein cofactor absorption and transport,disorder of metabolite absorption and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0010200 disease -UMLS:C0028754 MONDO:0011122, MONDO:0019182 overnutrition,nutritional disorder,human disease,disease -UMLS:C0027626 disease -UMLS:C0018944 disease -UMLS:C0036069 MONDO:0013127, MONDO:0015461 Jeune syndrome,ciliopathy,hereditary disease,human disease,disease -UMLS:C4551985 MONDO:0008817, MONDO:0018870 arterial calcification of infancy,hereditary disease,human disease,disease -UMLS:C0000786 disease -UMLS:C1140680 MONDO:0008170 female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4693831 MONDO:0054804 autosomal recessive primary microcephaly,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C3151228 MONDO:0013469 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0524582 MONDO:0009664 syndromic disease,human disease,disease -UMLS:C2973725 MONDO:0015924 pulmonary hypertension,hypertensive disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0342418 MONDO:0009436 Pallister-Hall syndrome,syndromic disease,human disease,disease -UMLS:C2981132 MONDO:0008770, MONDO:0008771, MONDO:0008772, MONDO:0013181, MONDO:0007538, MONDO:0014385, MONDO:0014540, MONDO:0014560, MONDO:0007092, MONDO:0007093, MONDO:0007094, MONDO:0013906, MONDO:0012926, MONDO:0010521, MONDO:0010522 amelogenesis imperfecta type 1,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C0339573 MONDO:0005338, MONDO:0100553 glaucoma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C3151355 MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts,leukoencephalopathy, megalencephalic,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0030201 disease -UMLS:C0030328 MONDO:0018063 panniculitis,integumentary system disorder,human disease,disease -UMLS:C0265210 MONDO:0010193, MONDO:0013038 syndromic disease,human disease,disease -UMLS:C1850318 MONDO:0009779, MONDO:0017136 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0019156 MONDO:0019514 hepatic vascular disorder,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C4049004 MONDO:0010544 early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C2751315 MONDO:0013123 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1853445 MONDO:0011658 young-onset Parkinson disease,Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2910117 MONDO:0000733 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C2751492 MONDO:0007100, MONDO:0971004 hereditary amyloidosis,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1847626 MONDO:0011708 autosomal dominant nonsyndromic hearing loss,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0032227 disease -UMLS:C4281993 disease -UMLS:C1843292 MONDO:0011882, MONDO:0957307 syndromic disease,human disease,disease -UMLS:C0206160 disease -UMLS:C0004782 MONDO:0003996 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0020651 MONDO:0005469 hypotensive disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0000737 disease -UMLS:C5679933 MONDO:0017401 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1298820 disease -UMLS:C2676840 MONDO:0100202 inherited disease susceptibility,disease susceptibility -UMLS:C4225314 MONDO:0014654 Ullrich congenital muscular dystrophy,congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4225227 MONDO:0020737 hereditary optic atrophy,primary optic atrophy,optic atrophy,optic nerve disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4025650 disease -UMLS:C0010068 MONDO:0005010 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0520806 disease -UMLS:C3553442 MONDO:0013852 familial hypertrophic cardiomyopathy,hypertrophic cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0023890 MONDO:0005155 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0003977 MONDO:0005380 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0266548 MONDO:0019187, MONDO:0020368 syndromic disease,human disease,disease -UMLS:C0265313 MONDO:0018096 autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0340279 disease -UMLS:C5436935 MONDO:0030902 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0268414 MONDO:0009394 bone Paget disease,hyperostosis,bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0005683 MONDO:0006678 lower urinary tract calculus,urolithiasis,urinary system disorder,human disease,disease -UMLS:C1865869 MONDO:0011193 cone dystrophy,hereditary macular dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0035410 disease -UMLS:C5679911 MONDO:0018276 congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4707180 MONDO:0008572 dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C3553843 MONDO:0013912 hypogonadotropic hypogonadism,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0005695 MONDO:0001187, MONDO:0004987 urinary bladder neoplasm,urinary bladder disorder,urinary system disorder,human disease,disease -UMLS:C0266126 disease -UMLS:C3554593 MONDO:0014060 inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C4551860 MONDO:0000355 congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5548198 MONDO:0015010 glycine encephalopathy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0268467 MONDO:0100184, MONDO:0100186 tetrahydrobiopterin metabolic process disease,disorder of phenylalanine metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0037277 MONDO:0005093, MONDO:0100118 integumentary system disorder,human disease,disease -UMLS:C3280054 MONDO:0013612 geleophysic dysplasia,acromelic dysplasia,skeletal dysplasia,hereditary disease,human disease,disease -UMLS:C2678477 MONDO:0012743 Brugada syndrome,heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0020877 MONDO:0000709, MONDO:0005534 small bowel Crohn disease,Crohn disease,inflammatory bowel disease,hereditary disease,human disease,disease -UMLS:C4693405 MONDO:0060642 Mendelian neurodevelopmental disorder,hereditary neurological disease,hereditary disease,human disease,disease -UMLS:C5436823 MONDO:0030846 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C0265562 MONDO:0017436, MONDO:0017468 hereditary disease,human disease,disease -UMLS:C1861863 MONDO:0007267 familial hypertrophic cardiomyopathy,hypertrophic cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0497406 disease -UMLS:C2751843 MONDO:0013058 leukodystrophy,inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0010035 MONDO:0012199, MONDO:0012200, MONDO:0018102, MONDO:0007378 posterior polymorphous corneal dystrophy,corneal endothelial dystrophy,corneal dystrophy,corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0027868 MONDO:0019056 nervous system disorder,human disease,disease -UMLS:C3151446 MONDO:0013523 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0264694 MONDO:0005010 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C1855304 MONDO:0009580, MONDO:0019502 autosomal recessive non-syndromic intellectual disability,non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0242647 MONDO:0007650, MONDO:0017604 hereditary disease,human disease,disease -UMLS:C0039338 disease -UMLS:C0005859 MONDO:0008876, MONDO:0020629 syndromic disease,human disease,disease -UMLS:C0040592 MONDO:0001249 chlamydia trachomatis infectious disease,commensal bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0004138 MONDO:0100309 atactic disorder,nervous system disorder,human disease,disease -UMLS:C0178417 disease -UMLS:C5190692 MONDO:0016981 disorder of thiamine metabolism and transport,disorder of vitamin and non-protein cofactor absorption and transport,disorder of metabolite absorption and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0007131 MONDO:0005233 lung carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0010346 MONDO:0005265, MONDO:0009960, MONDO:0005011 hereditary disease,human disease,disease -UMLS:C1527349 MONDO:0005590, MONDO:0004953 breast adenocarcinoma,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C1176475 MONDO:0005590 breast adenocarcinoma,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C0018378 MONDO:0016218 autoimmune disorder of peripheral nervous system,autoimmune disorder of the nervous system,nervous system disorder,human disease,disease -UMLS:C0002020 MONDO:0000661 agnosia,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C1858120 disease -UMLS:C5436692 MONDO:0033639 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0038358 MONDO:0001126 peptic ulcer disease,digestive system disorder,human disease,disease -UMLS:C0266539 MONDO:0021548 early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0029882 MONDO:0005441 middle ear disorder,auditory system disorder,human disease,disease -UMLS:C1456784 disease -UMLS:C4748152 MONDO:0060763 syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4012146 MONDO:0015426, MONDO:0009629 hereditary disease,human disease,disease -UMLS:C0376407 MONDO:0018031, MONDO:0000607 mycosis fungoides variant,primary cutaneous T-cell non-Hodgkin lymphoma,primary cutaneous lymphoma,skin cancer,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C0585362 MONDO:0004958 lip and oral cavity squamous cell carcinoma,head and neck squamous cell carcinoma,head and neck carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0007273 MONDO:0005269 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0027609 MONDO:0005566 substance withdrawal syndrome,syndromic disease,human disease,disease -UMLS:C4053775 MONDO:0019828 syndromic disease,human disease,disease -UMLS:C0018800 disease -UMLS:C0029607 MONDO:0004849 chronic obstructive pulmonary disease,obstructive lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C5830346 MONDO:0859526 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0018784 MONDO:0020678 hearing loss disorder,hearing disorder,auditory system disorder,human disease,disease -UMLS:C5681639 MONDO:0014452 congenital fibrinogen deficiency,coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C0266642 MONDO:0018677 syndromic disease,human disease,disease -UMLS:C0013182 MONDO:0000775 allergic disease,hypersensitivity reaction disease,immune system disorder,human disease,disease -UMLS:C3151189 MONDO:0013445 classic complement early component deficiency,complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C2875058 MONDO:0007492, MONDO:0007493, MONDO:0007495, MONDO:0011264, MONDO:0011886, MONDO:0008044, MONDO:0014627, MONDO:0013813, MONDO:0009141, MONDO:0014033, MONDO:0012895, MONDO:0010747 early-onset generalized dystonia,generalized dystonia,isolated dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0023003 MONDO:0007874 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1859728 disease -UMLS:C0020473 MONDO:0001336, MONDO:0021187 inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0034152 MONDO:0019167 hypersensitivity vasculitis,hypersensitivity reaction disease,immune system disorder,human disease,disease -UMLS:C0677607 MONDO:0007699 hereditary disease,human disease,disease -UMLS:C0034531 disease -UMLS:C1299247 MONDO:0008170 female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2750067 MONDO:0013227 coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C5190863 MONDO:0014865 autosomal recessive severe congenital neutropenia,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0033975 MONDO:0005485 cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C4015436 MONDO:0014523 hereditary ataxia,atactic disorder,nervous system disorder,human disease,disease -UMLS:C1332338 MONDO:0006292 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C5575702 MONDO:0012400 syndromic disease,human disease,disease -UMLS:C0013384 MONDO:0003441 extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C5669918 MONDO:0858939 pediatric high-grade glioma,childhood malignant neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4225359 MONDO:0014596 lissencephaly spectrum disorders,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0236969 MONDO:0002494 psychiatric disorder,human disease,disease -UMLS:C0341823 MONDO:0002229 epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1855081 MONDO:0016660, MONDO:0009617 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1840379 disease -UMLS:C0221405 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5676978 MONDO:0859245 autosomal recessive cerebellar ataxia,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C2720293 disease -UMLS:C2931345 MONDO:0023258 glycogen storage disease I,disorder of glycogen metabolism,inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0036982 disease -UMLS:C3810294 MONDO:0014304 complex hereditary spastic paraplegia,syndromic disease,human disease,disease -UMLS:C0017551 MONDO:0007745 syndromic disease,human disease,disease -UMLS:C1535926 MONDO:0700092 nervous system disorder,human disease,disease -UMLS:C0037019 MONDO:0007803 synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0454542 MONDO:0000723 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0452138 MONDO:0000912, MONDO:0011994, MONDO:0012002, MONDO:0012003, MONDO:0012023, MONDO:0012030, MONDO:0010915, MONDO:0012060, MONDO:0012083, MONDO:0012086, MONDO:0012090, MONDO:0012091, MONDO:0010933, MONDO:0010963, MONDO:0010965, MONDO:0010967, MONDO:0010973, MONDO:0010986, MONDO:0010987, MONDO:0011031, MONDO:0011032, MONDO:0011058, MONDO:0011067, MONDO:0011074, MONDO:0011102, MONDO:0011103, MONDO:0011159, MONDO:0011160, MONDO:0011192, MONDO:0011226, MONDO:0011279, MONDO:0011286, MONDO:0011350, MONDO:0011351, MONDO:0011360, MONDO:0011364, MONDO:0012170, MONDO:0013210, MONDO:0013215, MONDO:0013249, MONDO:0013250, MONDO:0011389, MONDO:0011392, MONDO:0011480, MONDO:0011519, MONDO:0011553, MONDO:0011568, MONDO:0011602, MONDO:0011625, MONDO:0011657, MONDO:0011660, MONDO:0011673, MONDO:0011708, MONDO:0012196, MONDO:0011761, MONDO:0011762, MONDO:0011767, MONDO:0011774, MONDO:0012273, MONDO:0011799, MONDO:0011832, MONDO:0012293, MONDO:0012326, MONDO:0012327, MONDO:0012333, MONDO:0012355, MONDO:0012370, MONDO:0012375, MONDO:0012376, MONDO:0012380, MONDO:0011893, MONDO:0011912, MONDO:0011920, MONDO:0012418, MONDO:0012420, MONDO:0012421, MONDO:0012442, MONDO:0012445, MONDO:0012452, MONDO:0012460, MONDO:0012485, MONDO:0011991, MONDO:0014283, MONDO:0014291, MONDO:0014293, MONDO:0014363, MONDO:0012602, MONDO:0014428, MONDO:0014469, MONDO:0014470, MONDO:0014594, MONDO:0014603, MONDO:0014675, MONDO:0014738, MONDO:0014739, MONDO:0014740, MONDO:0014853, MONDO:0014854, MONDO:0013269, MONDO:0013305, MONDO:0013365, MONDO:0013386, MONDO:0013471, MONDO:0013489, MONDO:0013537, MONDO:0013593, MONDO:0013632, MONDO:0013738, MONDO:0012670, MONDO:0009076, MONDO:0013823, MONDO:0013826, MONDO:0007424, MONDO:0013929, MONDO:0019586, MONDO:0019587, MONDO:0019588, MONDO:0013963, MONDO:0013978, MONDO:0013984, MONDO:0013985, MONDO:0012902, MONDO:0012903, MONDO:0012974, MONDO:0012975, MONDO:0012976, MONDO:0012977, MONDO:0013010, MONDO:0014182, MONDO:0013114, MONDO:0013119, MONDO:0014237, MONDO:0010807, MONDO:0010817, MONDO:0010860 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0086774 MONDO:0019533, MONDO:0100244 autoimmune hemolytic anemia, cold type,autoimmune hemolytic anemia,autoimmune disorder of blood,hematologic disorder,human disease,disease -UMLS:C0949804 MONDO:0005927 primary viral infectious disease,viral infectious disease,infectious disease,human disease,disease -UMLS:C4749947 MONDO:0014209 hereditary spastic paraplegia,paraplegia,palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4704767 MONDO:0013607 GATA2 deficiency with susceptibility to MDS/AML,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C1112486 MONDO:0020333 systemic mastocytosis,mastocytosis,mast cell neoplasm,myeloid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0279613 MONDO:0009994 rhabdomyosarcoma,soft tissue sarcoma,sarcoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2609414 MONDO:0002492 kidney failure,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0033774 disease -UMLS:C5193041 MONDO:0032689 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C5686324 disease -UMLS:C4021618 disease -UMLS:C5680509 MONDO:0015785 Prader-Willi syndrome,syndromic disease,human disease,disease -UMLS:C0027889 MONDO:0015364 sensory peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3887876 MONDO:0008143 inherited disease susceptibility,disease susceptibility -UMLS:C0023015 MONDO:0004750 communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0451641 MONDO:0024647 urinary system disorder,human disease,disease -UMLS:C0026640 MONDO:0021245 mouth disorder,human disease,disease -UMLS:C0026987 MONDO:0009692, MONDO:0044903 acquired aplastic anemia,aplastic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0040136 MONDO:0002108, MONDO:0015074 thyroid tumor,endocrine gland neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0153463 MONDO:0009831 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0349218 disease -UMLS:C1829703 MONDO:0009705 disorder of carnitine cycle and carnitine transport,disorder of fatty acid and ketone body metabolism,inborn disorder of energy metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0600467 disease -UMLS:C5543334 MONDO:0030263 leukodystrophy,inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0280725 MONDO:0019087 adenocarcinoma of gallbladder and extrahepatic biliary tract,extrahepatic bile duct adenocarcinoma,extrahepatic bile duct carcinoma,bile duct carcinoma,bile duct cancer,biliary tract cancer,liver cancer,digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0948480 MONDO:0005355 coronary stenosis,coronary artery disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C4310757 MONDO:0014874 pontocerebellar hypoplasia type 2,bulbospinal muscular atrophy,spinal muscular atrophy,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0085610 disease -UMLS:C0007832 MONDO:0004773 ciliary body disorder,iris disorder,uveal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0085215 MONDO:0005387 ovarian dysfunction,ovarian disorder,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C5561986 MONDO:0030437 congenital disorder of glycosylation type II,congenital disorder of glycosylation,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0242596 disease -UMLS:C3809888 MONDO:0014245 Diamond-Blackfan anemia,pure red-cell aplasia,anemia,hematologic disorder,human disease,disease -UMLS:C2698311 MONDO:0035943 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,precursor lymphoblastic lymphoma/leukemia,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1835434 disease -UMLS:C4317043 MONDO:0010731 syndromic disease,human disease,disease -UMLS:C0011436 MONDO:0008770, MONDO:0008771, MONDO:0008772, MONDO:0013181, MONDO:0007538, MONDO:0014385, MONDO:0014540, MONDO:0014560, MONDO:0018849, MONDO:0007092, MONDO:0007093, MONDO:0007094, MONDO:0013906, MONDO:0012926, MONDO:0010521, MONDO:0010522 amelogenesis imperfecta type 1,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C3275959 MONDO:0100173 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0344559 MONDO:0000733, MONDO:0011414 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0220994 disease -UMLS:C0751057 disease -UMLS:C0039483 MONDO:0008538 granulomatous angiitis,arteritis,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0013374 MONDO:0001342 selective immunoglobulin deficiency disease,B cell deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0013421 MONDO:0003441 extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C1856738 MONDO:0009231 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4305275 MONDO:0019855 generalized resistance to thyroid hormone,thyroid hormone resistance syndrome,inherited thyroid metabolism disease,thyroid gland disorder,endocrine system disorder,human disease,disease -UMLS:C0265101 MONDO:0004450 occlusion precerebral artery,cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1334603 MONDO:0002928 malignant mixed neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0810364 disease -UMLS:C0042131 MONDO:0002654 female reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C0024437 MONDO:0003004 retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0393702 MONDO:0014633, MONDO:0016025 myoclonic-astatic epilepsy,syndromic disease,human disease,disease -UMLS:C0026764 MONDO:0009693 immune system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2931500 MONDO:0000170 isolated microphthalmia,hereditary disease,human disease,disease -UMLS:C0432357 MONDO:0007238, MONDO:0015855, MONDO:0100490 isolated congenital breast hypoplasia/aplasia,breast disorder,human disease,disease -UMLS:C3489627 MONDO:0000723, MONDO:0008483 speech disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0795950 MONDO:0000902 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3711368 MONDO:0012580 pulmonary alveolar proteinosis,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C2931456 MONDO:0023122 prostate carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0796182 MONDO:0011359 frontonasal dysplasia,hereditary disease,human disease,disease -UMLS:C5561925 MONDO:0007934 hereditary macular dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0393706 MONDO:0100062 epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0376628 disease -UMLS:C0153492 MONDO:0008903 respiratory system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0033860 MONDO:0005083 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3553859 MONDO:0013919 inherited disease susceptibility,disease susceptibility -UMLS:C4041558 MONDO:0012490, MONDO:0016293 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0027543 MONDO:0005380, MONDO:0018373 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C3539878 MONDO:0005494 progesterone-receptor negative breast cancer,breast carcinoma by gene expression profile,breast carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1861456 MONDO:0008492 hereditary skin disorder,hereditary disease,human disease,disease -UMLS:C1631597 MONDO:0011484, MONDO:0017990 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C3888239 MONDO:0007723, MONDO:0018309 Hirschsprung disease, susceptibility to,inherited disease susceptibility,disease susceptibility -UMLS:C0001969 disease -UMLS:C0423112 disease -UMLS:C0023480 MONDO:0020311 chronic leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0011206 MONDO:0045057 cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C0406723 MONDO:0009263 multiple congenital anomalies/dysmorphic syndrome-intellectual disability,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0018553 MONDO:0007924, MONDO:0008021, MONDO:0016063 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0020678 MONDO:0003037 disorder of pilosebaceous unit,integumentary system disorder,human disease,disease -UMLS:C0278878 MONDO:0018177, MONDO:0020690 high grade astrocytic tumor,astrocytic tumor,glioma,neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1862382 MONDO:0007176 inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0024517 MONDO:0002009, MONDO:0002050 depressive disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5774176 MONDO:0009917 pseudohypoaldosteronism type 1,inherited renal tubular disease,renal tubule disorder,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0025160 MONDO:0001273 colonic disorder,large intestine disorder,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0025261 disease -UMLS:C4273899 MONDO:0013227 coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C0152013 MONDO:0005061 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1854260 MONDO:0013446 Leber congenital amaurosis,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0268374 MONDO:0009180, MONDO:0019307, MONDO:0017612 junctional epidermolysis bullosa,inherited epidermolysis bullosa,epidermolysis bullosa,vesiculobullous skin disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0031069 MONDO:0018088, MONDO:0009572 immune system disorder,human disease,disease -UMLS:C0162835 MONDO:0019290 skin pigmentation disorder,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0026650 MONDO:0005395 nervous system disorder,human disease,disease -UMLS:C0079541 MONDO:0016296 syndromic disease,human disease,disease -UMLS:C3149074 MONDO:0007365, MONDO:0016027 benign neonatal seizures,neonatal period electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3151356 MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts,leukoencephalopathy, megalencephalic,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5679777 disease -UMLS:C1833590 disease -UMLS:C0004763 MONDO:0013662 esophageal disorder,digestive system disorder,human disease,disease -UMLS:C0278601 MONDO:0006804 breast adenocarcinoma,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C4012268 MONDO:0010110, MONDO:0060764 hereditary disease,human disease,disease -UMLS:C4540131 MONDO:0060568 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0002962 disease -UMLS:C0030554 disease -UMLS:C5568140 disease -UMLS:C0543859 MONDO:0004976, MONDO:0007104 anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0684249 MONDO:0005138 carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0025193 MONDO:0002050, MONDO:0002444 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0206736 MONDO:0006680 melanocytic nevus,benign neoplasm of skin,integumentary system benign neoplasm,integumentary system disorder,human disease,disease -UMLS:C0272199 MONDO:0009974, MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C1336839 MONDO:0003789 hereditary renal cell carcinoma,renal cell adenocarcinoma,renal cell carcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1527336 MONDO:0010030 autoimmune disorder of exocrine system,autoimmune disease,immune system disorder,human disease,disease -UMLS:C4310722 MONDO:0014909 primary ciliary dyskinesia,syndromic disease,human disease,disease -UMLS:C1848599 MONDO:0010172 syndromic disease,human disease,disease -UMLS:C4022990 disease -UMLS:C0006012 MONDO:0001156 personality disorder,psychiatric disorder,human disease,disease -UMLS:C0004352 MONDO:0005260, MONDO:0020836 autism spectrum disorder,pervasive developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0423109 disease -UMLS:C4016412 disease -UMLS:C3281191 MONDO:0013801 undetermined early-onset epileptic encephalopathy,inborn disorder of amino acid transport,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0011615 MONDO:0011292, MONDO:0004980 disease -UMLS:C0002736 MONDO:0004976 anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1855008 MONDO:0100294 mitochondrial complex II deficiency, nuclear type,inborn mitochondrial myopathy,congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5779776 MONDO:0007275, MONDO:0020730 nerve compression syndrome,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3151057 MONDO:0013403, MONDO:0018677 visceral heterotaxy,syndromic disease,human disease,disease -UMLS:C0004134 disease -UMLS:C1856121 disease -UMLS:C5574816 MONDO:0019558 chronic cutaneous lupus erythematosus,cutaneous lupus erythematosus,lupus erythematosus,rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C1968602 MONDO:0012580, MONDO:0009929 pulmonary alveolar proteinosis,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0007873 MONDO:0002974, MONDO:0021230 uterine cancer,female reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C5561976 MONDO:0030428 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0206627 MONDO:0002928 malignant mixed neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0032768 MONDO:0041052 post-infectious neuralgia,neuralgia,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0034069 MONDO:0002771 interstitial lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C3887980 MONDO:0010565 color vision disorder,blindness (disorder),vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C3468561 MONDO:0004981, MONDO:0018054 cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0431368 disease -UMLS:C0011616 MONDO:0005480 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C4511137 MONDO:0014094 anemia, hypochromic microcytic with iron overload,hypochromic microcytic anemia,microcytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0037773 MONDO:0010878, MONDO:0011006, MONDO:0013132, MONDO:0013165, MONDO:0013179, MONDO:0011339, MONDO:0013239, MONDO:0011408, MONDO:0011445, MONDO:0011489, MONDO:0011522, MONDO:0011532, MONDO:0012181, MONDO:0012213, MONDO:0012256, MONDO:0011785, MONDO:0011803, MONDO:0011862, MONDO:0012334, MONDO:0012453, MONDO:0012476, MONDO:0011992, MONDO:0014282, MONDO:0014295, MONDO:0014302, MONDO:0014303, MONDO:0014304, MONDO:0014305, MONDO:0014568, MONDO:0014702, MONDO:0014729, MONDO:0014882, MONDO:0008437, MONDO:0008438, MONDO:0013342, MONDO:0013737, MONDO:0012639, MONDO:0012643, MONDO:0019064, MONDO:0010043, MONDO:0010044, MONDO:0010046, MONDO:0010047, MONDO:0010156, MONDO:0010287, MONDO:0012766, MONDO:0012787, MONDO:0013962, MONDO:0010418, MONDO:0014015, MONDO:0014016, MONDO:0014018, MONDO:0014020, MONDO:0014024, MONDO:0012866, MONDO:0012867, MONDO:0012928, MONDO:0010733 hereditary spastic paraplegia,paraplegia,palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0029493 MONDO:0003381 reproductive system disorder,human disease,disease -UMLS:C4551910 MONDO:0020347, MONDO:0016218 Guillain-Barre syndrome,autoimmune disorder of peripheral nervous system,autoimmune disorder of the nervous system,nervous system disorder,human disease,disease -UMLS:C2930970 MONDO:0008717, MONDO:0019696 acromesomelic dysplasia,osteochondrodysplasia,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1837008 MONDO:0012169 inherited primary ovarian failure,hereditary disease,human disease,disease -UMLS:C0027540 disease -UMLS:C0265220 MONDO:0007804 syndromic disease,human disease,disease -UMLS:C1836150 disease -UMLS:C0029131 disease -UMLS:C3532934 disease -UMLS:C0015696 MONDO:0004790, MONDO:0021104 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C5561940 MONDO:0030333 immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0271582 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009223, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1849075 disease -UMLS:C0162635 MONDO:0007113 syndromic disease,human disease,disease -UMLS:C0268634 MONDO:0009855, MONDO:0009705, MONDO:0037858 disorder of peroxisomal beta oxidation,peroxisomal single enzyme/protein defect,peroxisomal disease,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C3809192 MONDO:0014135 heritable pulmonary arterial hypertension,hereditary disease,human disease,disease -UMLS:C5399980 MONDO:0011268 renal tubular acidosis,acidosis disorder,disorder of acid-base balance,metabolic disease,human disease,disease -UMLS:C4225331 MONDO:0014634 46,XY complete gonadal dysgenesis,gonadal dysgenesis,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1866560 MONDO:0024456 iris disorder,uveal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0265213 MONDO:0019942 hereditary disease,human disease,disease -UMLS:C2931574 MONDO:0015571 partial deletion of the long arm of chromosome 5,partial deletion of chromosome 5,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C0042373 MONDO:0005385 cardiovascular disorder,human disease,disease -UMLS:C0086981 MONDO:0010030 autoimmune disorder of exocrine system,autoimmune disease,immune system disorder,human disease,disease -UMLS:C0264303 MONDO:0007878 laryngeal disorder,upper respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C1970163 MONDO:0012625 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C1858854 MONDO:0011391, MONDO:0024555 leukoencephalopathy, megalencephalic,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5436476 MONDO:0033537 combined oxidative phosphorylation deficiency,mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1842870 MONDO:0011929 partial deletion of the short arm of chromosome 1,partial deletion of chromosome 1,syndrome caused by partial chromosomal deletion,chromosomal disorder,human disease,disease -UMLS:C0268194 MONDO:0017320 disorder of gluconeogenesis,glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C3150412 MONDO:0013155 muscular dystrophy-dystroglycanopathy, type B,muscular dystrophy-dystroglycanopathy,congenital muscular dystrophy,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2931907 MONDO:0015152 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C3496337 MONDO:0010974, MONDO:0018170 familial idiopathic steroid-resistant nephrotic syndrome,familial nephrotic syndrome,nephrotic syndrome,syndromic disease,human disease,disease -UMLS:C0035309 MONDO:0005283 nervous system disorder,human disease,disease -UMLS:C0206711 MONDO:0007564 hair follicle neoplasm,epidermal appendage tumor,skin neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0158760 MONDO:0017436 hereditary disease,human disease,disease -UMLS:C0376323 MONDO:0018756 autoimmune disease,immune system disorder,human disease,disease -UMLS:C5680348 disease -UMLS:C1853863 disease -UMLS:C0003486 MONDO:0005160 aortic disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0019294 disease -UMLS:C4016052 disease -UMLS:C4316870 MONDO:0005328 disorder of orbital region,human disease,disease -UMLS:C0020445 MONDO:0005439 familial hyperlipidemia,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C5681636 disease -UMLS:C0236663 MONDO:0005433 substance withdrawal syndrome,syndromic disease,human disease,disease -UMLS:C5231513 MONDO:0019531 familial hemolytic anemia,hemolytic anemia,normocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0677776 MONDO:0003582 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5399977 MONDO:0011451 fatal infantile encephalocardiomyopathy,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0740392 MONDO:0006857 cerebral infarction,brain infarction,cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0026351 disease -UMLS:C4024965 disease -UMLS:C0029401 MONDO:0005382 hyperostosis,bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0266463 MONDO:0014351, MONDO:0014688, MONDO:0013438, MONDO:0013541, MONDO:0018838, MONDO:0018772, MONDO:0010417, MONDO:0013990, MONDO:0013993 pontocerebellar hypoplasia,central nervous system malformation,nervous system disorder,human disease,disease -UMLS:C2677504 MONDO:0012801 autism, susceptiblity to,inherited disease susceptibility,disease susceptibility -UMLS:C2931686 MONDO:0007311 Charcot-Marie-Tooth disease type 1,Charcot-Marie-Tooth disease,hereditary peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1843807 MONDO:0011841 thiamine-responsive dysfunction syndrome,disorder of thiamine metabolism and transport,disorder of vitamin and non-protein cofactor absorption and transport,disorder of metabolite absorption and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0265554 MONDO:0011535, MONDO:0011709, MONDO:0016576, MONDO:0009157, MONDO:0009525, MONDO:0010736 split hand-foot malformation,hereditary disease,human disease,disease -UMLS:C0030297 MONDO:0009831, MONDO:0021040 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C2608079 disease -UMLS:C0027059 MONDO:0004496 intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2063326 disease -UMLS:C1856184 MONDO:0009331 overgrowth syndrome,disorder of development or morphogenesis,human disease,disease -UMLS:C0004245 MONDO:0000465 heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0020456 MONDO:0002909 glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C0005612 disease -UMLS:C1836806 disease -UMLS:C0745048 MONDO:0005380 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0020578 disease -UMLS:C4015513 MONDO:0014532 inborn mitochondrial myopathy,congenital structural myopathy,congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C3810380 MONDO:0014323 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C3278923 disease -UMLS:C2751088 MONDO:0013146 Brugada syndrome,heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0085090 disease -UMLS:C1837873 MONDO:0012056 Leber congenital amaurosis,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0521802 MONDO:0008846 inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C3280790 MONDO:0013750 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0024121 MONDO:0002732, MONDO:0021117 respiratory system benign neoplasm,respiratory system disorder,human disease,disease -UMLS:C1968729 disease -UMLS:C2751826 MONDO:0013064 multiple synostoses syndrome,synostosis,dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0026106 disease -UMLS:C1112530 MONDO:0004844 leukoplakia,precancerous condition,cancer or benign tumor,human disease,disease -UMLS:C0039075 MONDO:0000151, MONDO:0019530, MONDO:0021002 skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0011882 MONDO:0006626 peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5574922 MONDO:0017990 heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0154564 MONDO:0003406 sleep disorder,nervous system disorder,human disease,disease -UMLS:C0040038 disease -UMLS:C0011871 MONDO:0000960 peripheral vascular disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C1292779 MONDO:0007925 macrocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0015306 MONDO:0005508, MONDO:0007585 exostosis,hyperostosis,bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0426970 MONDO:0001590, MONDO:0016215 palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0153416 MONDO:0007576 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0268542 MONDO:0010703 urea cycle disorder or inherited hyperammonemia,urea cycle disorder,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0015967 disease -UMLS:C4014294 MONDO:0014343 Desbuquois dysplasia,hereditary disease,human disease,disease -UMLS:C0012736 disease -UMLS:C0520459 MONDO:0004639, MONDO:0005313 necrotizing enterocolitis,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C5543243 MONDO:0031003 hypercholanemia, familial,inborn disorder of bile acid synthesis,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4539937 MONDO:0033308 Joubert syndrome,syndromic disease,human disease,disease -UMLS:C0020523 MONDO:0007817 hypersensitivity reaction disease,immune system disorder,human disease,disease -UMLS:C0030246 MONDO:0005083, MONDO:0015597 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3151752 MONDO:0010435 congenital nystagmus,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3809427 MONDO:0014172 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C1970848 MONDO:0010392 disorder of glycogen metabolism,inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0031762 MONDO:0006597 radiodermatitis,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3665347 MONDO:0021084 perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C0004135 MONDO:0008840 combined immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0023264 MONDO:0009723 mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0454644 disease -UMLS:C0013386 MONDO:0006732 nervous system disorder,human disease,disease -UMLS:C0854795 MONDO:0002691 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C4016266 disease -UMLS:C0796154 MONDO:0020602, MONDO:0010731 hereditary disease,human disease,disease -UMLS:C5543526 MONDO:0025713 hereditary angioedema,angioedema,urticaria,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0001723 disease -UMLS:C4022738 disease -UMLS:C0011633 MONDO:0016367 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3463992 MONDO:0018226, MONDO:0100062, MONDO:0010632 combined dystonia,inherited dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C0028840 MONDO:0006875 hypertensive disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C1853214 MONDO:0012463 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0038220 MONDO:0002125 epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4479517 MONDO:0044318 syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C2931228 MONDO:0010752 VACTERL/vater association,syndromic disease,human disease,disease -UMLS:C5551003 MONDO:0009044 syndromic disease,human disease,disease -UMLS:C1865871 MONDO:0011191 capillary hemangioma,hemangioma,benign blood vessel neoplasm,cardiovascular organ benign neoplasm,benign neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4022737 disease -UMLS:C0014055 MONDO:0006009, MONDO:0019384 infectious encephalitis,encephalitis,encephalomyelitis,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0279543 MONDO:0011996 myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4014641 MONDO:0014394 Diamond-Blackfan anemia,pure red-cell aplasia,anemia,hematologic disorder,human disease,disease -UMLS:C0003089 MONDO:0007179 immune system disorder,human disease,disease -UMLS:C5543027 MONDO:0030924 proteosome-associated autoinflammatory syndrome,immune system disorder,human disease,disease -UMLS:C0270911 MONDO:0007309, MONDO:0015626 partial duplication of the short arm of chromosome 17,partial duplication of chromosome 17,syndrome caused by partial chromosomal duplication,chromosomal disorder,human disease,disease -UMLS:C0282207 MONDO:0008283 digestive system disorder,human disease,disease -UMLS:C1844376 MONDO:0018305, MONDO:0010600 phagocyte bactericidal dysfunction,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C5816750 MONDO:0958262, MONDO:0015999 primary pigmented nodular adrenocortical disease,hereditary disease,human disease,disease -UMLS:C1879526 disease -UMLS:C5190707 MONDO:0012143 syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C1862939 MONDO:0005144, MONDO:0007103 amyotrophic lateral sclerosis,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0001916 MONDO:0007862, MONDO:0018306, MONDO:0043209 Waardenburg syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0037317 disease -UMLS:C3658266 MONDO:0850353 prostate carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1852091 disease -UMLS:C0025568 disease -UMLS:C5679990 disease -UMLS:C2183058 MONDO:0017436 hereditary disease,human disease,disease -UMLS:C1849340 disease -UMLS:C0752332 MONDO:0043985 autoimmune disorder of central nervous system,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1565662 MONDO:0002492 kidney failure,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0007222 MONDO:0004995 human disease,disease -UMLS:C1335060 MONDO:0005061 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0162872 MONDO:0005396 aortic aneurysm,aortic disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0007302 disease -UMLS:C0876994 disease -UMLS:C0887850 MONDO:0004691, MONDO:0008265, MONDO:0000447 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5774312 disease -UMLS:C3697119 disease -UMLS:C0013238 MONDO:0006733 lacrimal apparatus disorder,eye adnexa disorder,disorder of orbital region,human disease,disease -UMLS:C4016042 disease -UMLS:C2348199 MONDO:0000453 heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0022738 MONDO:0001029 musculoskeletal system disorder,human disease,disease -UMLS:C4748251 MONDO:0020854 Liddle syndrome,syndromic disease,human disease,disease -UMLS:C4310704 MONDO:0014929 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C3808940 MONDO:0014098 familial partial lipodystrophy,hereditary lipodystrophy,lipodystrophy,metabolic disease,human disease,disease -UMLS:C1849156 MONDO:0017845 hereditary ataxia,atactic disorder,nervous system disorder,human disease,disease -UMLS:C4016809 disease -UMLS:C4023248 disease -UMLS:C3280795 MONDO:0013752 hypoplastic left heart syndrome,syndromic disease,human disease,disease -UMLS:C0243050 disease -UMLS:C0162836 MONDO:0006559 hidradenitis,inflammatory disease,human disease,disease -UMLS:C0344730 MONDO:0020436 atrial septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0752347 MONDO:0007488 synucleinopathy,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C2697932 MONDO:0018954 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4479526 MONDO:0044320 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0205875 MONDO:0002363, MONDO:0021098 papillary epithelial neoplasm,epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0587371 MONDO:0017436 hereditary disease,human disease,disease -UMLS:C3281153 MONDO:0800431 inherited disease susceptibility,disease susceptibility -UMLS:C0005684 MONDO:0001187 urinary bladder neoplasm,urinary bladder disorder,urinary system disorder,human disease,disease -UMLS:C0016978 MONDO:0005411, MONDO:0021253 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C2676498 disease -UMLS:C5679924 disease -UMLS:C0026636 MONDO:0006858 human disease,disease -UMLS:C1861099 MONDO:0008572 dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0017658 MONDO:0002462 nephritis,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0009806 MONDO:0002203 bowel dysfunction,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C5561981 MONDO:0030433 Charcot-Marie-Tooth disease,hereditary peripheral neuropathy,peripheral neuropathy,peripheral nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4225383 MONDO:0014572 autosomal recessive cerebellar ataxia,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5394384 MONDO:0030042 hereditary disease,human disease,disease -UMLS:C1527226 MONDO:0019563 syndromic disease,human disease,disease -UMLS:C3150939 MONDO:0013362 hereditary disease,human disease,disease -UMLS:C0019569 MONDO:0018309 hereditary disease,human disease,disease -UMLS:C0279628 MONDO:0005028 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0017185 MONDO:0002516, MONDO:0021223 digestive system disorder,human disease,disease -UMLS:C3495488 MONDO:0019187 syndromic disease,human disease,disease -UMLS:C0339525 disease -UMLS:C5561926 MONDO:0800029 idiopathic interstitial pneumonia,pneumonia,respiratory tract infectious disorder,respiratory system disorder,human disease,disease -UMLS:C1855457 disease -UMLS:C5680088 MONDO:0018555 hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C3150973 MONDO:0013382 thiamine-responsive dysfunction syndrome,disorder of thiamine metabolism and transport,disorder of vitamin and non-protein cofactor absorption and transport,disorder of metabolite absorption and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0234357 MONDO:0000437 cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0017668 MONDO:0100313 glomerulosclerosis,glomerular disorder,kidney disorder,urinary system disorder,human disease,disease -UMLS:C1836651 disease -UMLS:C0085580 MONDO:0001134, MONDO:0007781 hypertensive disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0006111 MONDO:0005560 central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0030319 MONDO:0005383 anxiety disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4748715 MONDO:0033864 syndromic disease,human disease,disease -UMLS:C0017601 MONDO:0005041 eye disorder,disorder of orbital region,human disease,disease -UMLS:C5575375 MONDO:0015244 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5830322 MONDO:0859520 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C2751324 MONDO:0013112 idiopathic bronchiectasis,bronchiectasis,bronchial disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0014547 MONDO:0005384 epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0265535 MONDO:0000156, MONDO:0015469, MONDO:0018065 dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4016717 disease -UMLS:C0019624 MONDO:0015531 histiocytosis,lymphatic system disorder,lymphoid system disorder,immune system disorder,human disease,disease -UMLS:C0265610 MONDO:0017461 disorder of development or morphogenesis,human disease,disease -UMLS:C0017605 MONDO:0001744 glaucoma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0030569 MONDO:0006966 neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0078917 MONDO:0017304 disorder of melanin metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0008925 MONDO:0007336, MONDO:0016064 cleft palate,orofacial cleft,hereditary disease,human disease,disease -UMLS:C3553298 MONDO:0013829 UV-sensitive syndrome,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0029422 MONDO:0005516 bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0005940 MONDO:0005381 skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1879362 MONDO:0004741 disorder of tyrosine metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0023827 MONDO:0005060 lipomatous cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3553794 MONDO:0004983 hereditary disease,human disease,disease -UMLS:C3279754 MONDO:0013554 psoriasis, susceptibility to,inherited disease susceptibility,disease susceptibility -UMLS:C0553604 MONDO:0011266, MONDO:0016107, MONDO:0016120, MONDO:0100435 myotonic dystrophy,progressive muscular dystrophy,muscular dystrophy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1862841 MONDO:0007134 dysostosis,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0575081 disease -UMLS:C1260899 MONDO:0015253 pure red-cell aplasia,anemia,hematologic disorder,human disease,disease -UMLS:C1848561 MONDO:0016826, MONDO:0010184 methylmalonic acidemia,inborn organic aciduria,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4015235 MONDO:0014494 psoriasis, susceptibility to,inherited disease susceptibility,disease susceptibility -UMLS:C0546127 MONDO:0016013 toxic or drug-related embryofetopathy,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C4225238 MONDO:0014742 late-onset Parkinson disease,Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2825149 MONDO:0850271 acute megakaryoblastic leukemia,acute myeloid leukemia by FAB classification,acute myeloid leukemia,myeloid leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0037315 MONDO:0005296 sleep-wake disorder,sleep disorder,nervous system disorder,human disease,disease -UMLS:C0035300 disease -UMLS:C5681803 MONDO:0015096 congenital afibrinogenemia,familial dysfibrinogenemia,congenital fibrinogen deficiency,coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C0037221 MONDO:0010029 visceral heterotaxy,syndromic disease,human disease,disease -UMLS:C5816691 disease -UMLS:C1846707 MONDO:0011781 cerebelloparenchymal disorder,hereditary disease,human disease,disease -UMLS:C0349588 disease -UMLS:C0019209 disease -UMLS:C3714756 MONDO:0001071 developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5830299 MONDO:0859382 cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1527311 MONDO:0006684 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4016053 disease -UMLS:C1333015 MONDO:0019004, MONDO:0024676 kidney cancer,malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2931121 MONDO:0009548 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,familial primary hypomagnesemia,inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C2750027 disease -UMLS:C0947622 MONDO:0006698 gallbladder disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C4273730 MONDO:0015487 familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1868570 MONDO:0008209 syndromic disease,human disease,disease -UMLS:C0023891 MONDO:0006644 cirrhosis of liver,liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0085633 disease -UMLS:C0011303 MONDO:0002562 neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1861923 MONDO:0007251 endocrine system disorder,human disease,disease -UMLS:C0030354 MONDO:0002363 papillary epithelial neoplasm,epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0003493 MONDO:0005561 arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C1720859 MONDO:0012072, MONDO:0020088 familial partial lipodystrophy,hereditary lipodystrophy,lipodystrophy,metabolic disease,human disease,disease -UMLS:C3714580 MONDO:0042979 hypokalemic periodic paralysis,familial periodic paralysis,inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C2932678 disease -UMLS:C0018798 MONDO:0005453, MONDO:0009327 heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0346629 MONDO:0005575 colorectal neoplasm,intestinal neoplasm,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0241397 disease -UMLS:C0158451 MONDO:0005380 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0014868 MONDO:0001409 esophageal disorder,digestive system disorder,human disease,disease -UMLS:C0018965 disease -UMLS:C5231422 MONDO:0032828 hereditary disease,human disease,disease -UMLS:C0003873 MONDO:0008383 autoimmune disorder of musculoskeletal system,musculoskeletal system disorder,human disease,disease -UMLS:C4021387 disease -UMLS:C0025322 MONDO:0001119 primary ovarian failure,ovarian dysfunction,ovarian disorder,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0005587 MONDO:0004985, MONDO:0024613 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0151878 MONDO:0002442 syndromic disease,human disease,disease -UMLS:C1833118 MONDO:0011430 early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0085637 MONDO:0000483 focal dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C4511672 MONDO:0007272 disorder of vitamin and non-protein cofactor absorption and transport,disorder of metabolite absorption and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1866423 MONDO:0011136 inherited bleeding disorder, platelet-type,hemorrhagic disease,hematologic disorder,human disease,disease -UMLS:C0032580 MONDO:0021055, MONDO:0021056 classic or attenuated familial adenomatous polyposis,intestinal polyposis syndrome,hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0265341 MONDO:0019187, MONDO:0019628 syndromic disease,human disease,disease -UMLS:C4016820 disease -UMLS:C4020867 disease -UMLS:C1859726 MONDO:0008818 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C2673630 MONDO:0009154 hypothyroidism, congenital, nongoitrous,hereditary disease,human disease,disease -UMLS:C0740340 MONDO:0018634 inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0013069 MONDO:0018089 ventricular septal defect,heart septal defect,congenital heart disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0027672 MONDO:0015356 hereditary disease,human disease,disease -UMLS:C0677866 MONDO:0002912, MONDO:0021228 infratentorial cancer,brain cancer,central nervous system cancer,nervous system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0403814 MONDO:0018801, MONDO:0010178 male reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C2673866 disease -UMLS:C0860204 disease -UMLS:C4317124 MONDO:0016575 syndromic disease,human disease,disease -UMLS:C0024894 MONDO:0006849 breast disorder,human disease,disease -UMLS:C3178805 MONDO:0018677 syndromic disease,human disease,disease -UMLS:C0477984 MONDO:0011097, MONDO:0011233, MONDO:0008386, MONDO:0019503 Axenfeld-Rieger syndrome,syndromic disease,human disease,disease -UMLS:C5830433 MONDO:0957225 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1849367 disease -UMLS:C0009405 MONDO:0005835 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0162557 MONDO:0019542 acute disease,human disease,disease -UMLS:C0041408 MONDO:0019499 gonadal dysgenesis,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0005818 MONDO:0002245, MONDO:0000009 hematologic disorder,human disease,disease -UMLS:C0001815 MONDO:0009692, MONDO:0800305 acquired aplastic anemia,aplastic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C4310815 MONDO:0010511 congenital bilateral absence of vas deferens,male reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C0750994 MONDO:0000437 cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0079765 MONDO:0018906 neoplasm of mature B-cells,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C1956131 MONDO:0018906 neoplasm of mature B-cells,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C0153422 MONDO:0001056 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0030567 MONDO:0011562, MONDO:0014796, MONDO:0005180, MONDO:0014231 late-onset Parkinson disease,Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0524620 MONDO:0000816, MONDO:0011565 syndromic disease,human disease,disease -UMLS:C0011757 MONDO:0004922 specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5830452 MONDO:0958190 bradyopsia,retinal disorder,nervous system disorder,human disease,disease -UMLS:C1846837 MONDO:0011770 familial thoracic aortic aneurysm and aortic dissection,hereditary disease,human disease,disease -UMLS:C2750824 MONDO:0007785 hereditary disease,human disease,disease -UMLS:C0018524 disease -UMLS:C0020476 MONDO:0001336, MONDO:0037748 inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0037769 MONDO:0018097 infancy electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4225207 MONDO:0014774 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C0023895 MONDO:0005154 hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C3714992 MONDO:0014230 chronic mucocutaneous candidiasis,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0019054 disease -UMLS:C5681780 disease -UMLS:C0270853 MONDO:0009696 childhood electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0477360 MONDO:0013928, MONDO:0014019, MONDO:0100352, MONDO:0700089 focal dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C1384666 MONDO:0005365 hearing disorder,auditory system disorder,human disease,disease -UMLS:C4693843 MONDO:0054806 autosomal recessive primary microcephaly,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4551602 MONDO:0008104, MONDO:0018997 Noonan syndrome,syndromic disease,human disease,disease -UMLS:C4310728 MONDO:0014903 benign familial infantile epilepsy,infancy electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1708353 MONDO:0017366 adrenal gland disorder,endocrine system disorder,human disease,disease -UMLS:C2874189 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4225193 MONDO:0014787 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3809250 MONDO:0014148 syndromic disease,human disease,disease -UMLS:C3714958 MONDO:0014151 inherited disease susceptibility,disease susceptibility -UMLS:C0333355 MONDO:0000888, MONDO:0020579 digestive system disorder,human disease,disease -UMLS:C0162530 MONDO:0009902 familial hemolytic anemia,hemolytic anemia,normocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C1865384 MONDO:0011224 acquired motor neuron disease,motor neuron disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1846474 disease -UMLS:C0020490 MONDO:0004891 refractive error,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1853100 MONDO:0012554 COFS syndrome,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C3551915 MONDO:0011789 meningioma,tumor of meninges,central nervous system neoplasm,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1858556 MONDO:0011431, MONDO:0016663 overlapping connective tissue disease,connective tissue disorder,human disease,disease -UMLS:C0855631 disease -UMLS:C0393703 MONDO:0019487 movement disorder,nervous system disorder,human disease,disease -UMLS:C0022876 disease -UMLS:C0477317 MONDO:0004680, MONDO:0014518, MONDO:0008552, MONDO:0015912, MONDO:0800047 autoimmune disorder of blood,hematologic disorder,human disease,disease -UMLS:C0349639 MONDO:0011908 chronic myelomonocytic leukemia,chronic leukemia,leukemia,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C5574705 MONDO:0027676 congenital anomaly of kidney and urinary tract,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C4479431 MONDO:0044311 hereditary disease,human disease,disease -UMLS:C4510744 MONDO:0016674 46,XY disorder of sex development,disorder of sexual differentiation,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C4049090 MONDO:0005339, MONDO:0007184 endocrine alopecia,alopecia,hair anomaly,disorder of pilosebaceous unit,integumentary system disorder,human disease,disease -UMLS:C0009404 MONDO:0005335, MONDO:0005575 intestinal neoplasm,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C0152021 MONDO:0005453 heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1853242 disease -UMLS:C0426790 disease -UMLS:C0029513 MONDO:0003282 ovarian disorder,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C0031149 MONDO:0006901 neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0949664 MONDO:0005574 neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0011430 MONDO:0008770, MONDO:0008771, MONDO:0008772, MONDO:0013181, MONDO:0007538, MONDO:0014385, MONDO:0014540, MONDO:0014560, MONDO:0007092, MONDO:0007093, MONDO:0007094, MONDO:0013906, MONDO:0015613, MONDO:0012926, MONDO:0010521, MONDO:0010522 amelogenesis imperfecta type 1,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C1449563 MONDO:0005021, MONDO:0007269, MONDO:0016333 intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1833236 MONDO:0010946 familial hypertrophic cardiomyopathy,hypertrophic cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0279680 MONDO:0005611 urinary bladder carcinoma,urinary bladder cancer,urinary bladder neoplasm,urinary bladder disorder,urinary system disorder,human disease,disease -UMLS:C5681246 MONDO:0018839 schizencephaly,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2931367 MONDO:0008566 thyroid gland follicular carcinoma,differentiated thyroid carcinoma,thyroid gland carcinoma,thyroid cancer,thyroid tumor,endocrine gland neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0392525 MONDO:0008171 kidney disorder,urinary system disorder,human disease,disease -UMLS:C5561966 MONDO:0030362 Aicardi-Goutieres syndrome,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0024143 MONDO:0005556 glomerulonephritis,nephritis,kidney disorder,urinary system disorder,human disease,disease -UMLS:C1849811 MONDO:0009871 syndromic disease,human disease,disease -UMLS:C1855710 disease -UMLS:C1855903 MONDO:0009403 hereditary disease,human disease,disease -UMLS:C0000889 MONDO:0007035, MONDO:0043003 dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0272350 MONDO:0014452 congenital fibrinogen deficiency,coagulation protein disease,blood coagulation disease,hematologic disorder,human disease,disease -UMLS:C0445118 disease -UMLS:C5680265 MONDO:0036045 hyperthyroxinemia,thyroid gland disorder,endocrine system disorder,human disease,disease -UMLS:C0017638 MONDO:0021042, MONDO:0100342 neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4023342 disease -UMLS:C0279702 MONDO:0007763, MONDO:0005005, MONDO:0005086 renal cell carcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0035222 MONDO:0006502, MONDO:0100130 acute respiratory failure,acute disease,human disease,disease -UMLS:C4748803 MONDO:0032628 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1968949 MONDO:0019719 developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C4025298 disease -UMLS:C0751122 MONDO:0100079, MONDO:0100135 developmental and epileptic encephalopathy,epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0005944 MONDO:0800486 bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1368871 MONDO:0021079 neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C4015388 MONDO:0014516 microcephaly and chorioretinopathy,microcephaly,disorder of development or morphogenesis,human disease,disease -UMLS:C0010324 MONDO:0009044, MONDO:0021020 syndromic disease,human disease,disease -UMLS:C0023316 MONDO:0001271 lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1864694 MONDO:0012412 classic complement early component deficiency,complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0157743 MONDO:0006618, MONDO:0007447 physical urticaria,urticaria,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0206762 MONDO:0017427 disorder of development or morphogenesis,human disease,disease -UMLS:C3281201 MONDO:0007617, MONDO:0015452 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0018206 MONDO:0006036 endocrine gland neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0574080 MONDO:0012999 cerebral creatine deficiency syndrome,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0002938 MONDO:0700064 chromosomal disorder,human disease,disease -UMLS:C3850148 disease -UMLS:C0020479 MONDO:0018473 familial hyperlipidemia,inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4014408 MONDO:0014356 mitochondrial complex III deficiency, nuclear type,mitochondrial complex III deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0273115 disease -UMLS:C0018213 MONDO:0005364 toxic diffuse goiter,hyperthyroidism,thyroid gland disorder,endocrine system disorder,human disease,disease -UMLS:C4225218 MONDO:0031384, MONDO:0800045 autoinflammatory syndrome,syndromic disease,human disease,disease -UMLS:C0023794 MONDO:0019245 inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0024236 MONDO:0019297 lymphatic system disorder,lymphoid system disorder,immune system disorder,human disease,disease -UMLS:C0011991 MONDO:0001673 digestive system disorder,human disease,disease -UMLS:C0007138 MONDO:0006474 carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0007959 MONDO:0000902, MONDO:0012096, MONDO:0011085, MONDO:0011091, MONDO:0011113, MONDO:0013212, MONDO:0011527, MONDO:0011534, MONDO:0011633, MONDO:0011687, MONDO:0012231, MONDO:0012250, MONDO:0011894, MONDO:0011901, MONDO:0011902, MONDO:0011903, MONDO:0011916, MONDO:0014467, MONDO:0014566, MONDO:0014733, MONDO:0014735, MONDO:0014866, MONDO:0013338, MONDO:0013644, MONDO:0013753, MONDO:0013758, MONDO:0012640, MONDO:0007307, MONDO:0007308, MONDO:0007309, MONDO:0007311, MONDO:0013959, MONDO:0015626, MONDO:0014012, MONDO:0014074, MONDO:0014117, MONDO:0014154, MONDO:0010479, MONDO:0014208, MONDO:0010549, MONDO:0010689, MONDO:0010699 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0024449 MONDO:0005757, MONDO:0016823 dermatomycosis,cutaneous mycosis,fungal infectious disease,infectious disease,human disease,disease -UMLS:C1832702 MONDO:0007216 syndromic disease,human disease,disease -UMLS:C1135745 MONDO:0018059 meningococcal infection,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C4304725 MONDO:0020478 mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1719382 MONDO:0013928, MONDO:0014019, MONDO:0044870, MONDO:0100352, MONDO:0700089 focal dystonia,dystonic disorder,extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C1708371 MONDO:0010771 inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C1842587 disease -UMLS:C1963943 MONDO:0000831 vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0751895 MONDO:0006812 cerebrovascular disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4748081 MONDO:0060752 Mendelian neurodevelopmental disorder,hereditary neurological disease,hereditary disease,human disease,disease -UMLS:C0265012 MONDO:0005160 aortic disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C3542024 MONDO:0013902 familial bicuspid aortic valve,aortic valve disorder,heart valve disorder,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1836923 disease -UMLS:C4022458 disease -UMLS:C0020429 disease -UMLS:C0028768 MONDO:0008114 anxiety disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0018128 disease -UMLS:C0392005 disease -UMLS:C2931498 MONDO:0019181, MONDO:0010656 non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4551906 MONDO:0016575, MONDO:0009484 syndromic disease,human disease,disease -UMLS:C0011854 MONDO:0010862, MONDO:0010863, MONDO:0010864, MONDO:0010950, MONDO:0011016, MONDO:0011033, MONDO:0011068, MONDO:0011123, MONDO:0011167, MONDO:0011168, MONDO:0011302, MONDO:0011572, MONDO:0012422, MONDO:0005147, MONDO:0007454, MONDO:0012919, MONDO:0012920, MONDO:0012921, MONDO:0012961, MONDO:0013078, MONDO:0010861 diabetes mellitus, insulin-dependent, X-linked, susceptibility to,inherited disease susceptibility,disease susceptibility -UMLS:C1142166 MONDO:0011001, MONDO:0014621, MONDO:0015263 Brugada syndrome,heart conduction disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C1839546 disease -UMLS:C0003811 MONDO:0007263 heart disorder,cardiovascular disorder,human disease,disease -UMLS:C0004114 MONDO:0021636, MONDO:0019781 glioma,neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0010606 MONDO:0003175, MONDO:0004971 salivary gland carcinoma,salivary gland cancer,oral cavity cancer,digestive system cancer,digestive system disorder,human disease,disease -UMLS:C4748777 MONDO:0032619 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0265563 disease -UMLS:C2675718 disease -UMLS:C1855340 disease -UMLS:C0265265 MONDO:0012937 Diamond-Blackfan anemia,pure red-cell aplasia,anemia,hematologic disorder,human disease,disease -UMLS:C4748785 MONDO:0032621 mitochondrial complex I deficiency, nuclear type,mitochondrial complex I deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0220701 MONDO:0008377, MONDO:0019200 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0040997 MONDO:0008599 central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4479476 MONDO:0044313 autosomal recessive non-syndromic intellectual disability,non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0005411 MONDO:0008867 cholestasis,bile duct disorder,biliary tract disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C0175709 MONDO:0002921, MONDO:0018947 congenital myopathy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2750452 MONDO:0013202 Waardenburg-Shah syndrome,Waardenburg syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0242488 MONDO:0015796 lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0018814 disease -UMLS:C0542519 MONDO:0018470 disorder of development or morphogenesis,human disease,disease -UMLS:C1866558 MONDO:0011120, MONDO:0018075 isolated spina bifida,spina bifida,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C5394553 MONDO:0030072 developmental and epileptic encephalopathy,epilepsy, idiopathic generalized,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0281267 MONDO:0003982 breast carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1849265 disease -UMLS:C1836199 MONDO:0012273 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0153415 MONDO:0007576 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0030421 MONDO:0000448 autonomic nervous system neoplasm,autonomic nervous system disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1135746 MONDO:0018059 meningococcal infection,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C5244016 MONDO:0000456 inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4025901 disease -UMLS:C0376532 MONDO:0007295 childhood electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0392439 MONDO:0013626 psoriasis,dermatitis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0342257 disease -UMLS:C4748455 MONDO:0032571 spondyloepimetaphyseal dysplasia,osteochondrodysplasia,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2981140 MONDO:0020367 open-angle glaucoma,glaucoma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C1840427 MONDO:0007758, MONDO:0968949 diffuse palmoplantar keratoderma,hereditary palmoplantar keratoderma,palmoplantar keratosis,keratosis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0031900 MONDO:0009869, MONDO:0014296, MONDO:0008490, MONDO:0013638, MONDO:0013641, MONDO:0010822 eye disorder,disorder of orbital region,human disease,disease -UMLS:C2875300 MONDO:0000902, MONDO:0012096, MONDO:0011085, MONDO:0011091, MONDO:0011113, MONDO:0013212, MONDO:0011527, MONDO:0011534, MONDO:0011633, MONDO:0011687, MONDO:0012231, MONDO:0012250, MONDO:0011894, MONDO:0011901, MONDO:0011902, MONDO:0011903, MONDO:0011916, MONDO:0014467, MONDO:0014566, MONDO:0014733, MONDO:0014735, MONDO:0014866, MONDO:0013338, MONDO:0013644, MONDO:0013753, MONDO:0013758, MONDO:0012640, MONDO:0007307, MONDO:0007308, MONDO:0007309, MONDO:0007311, MONDO:0013959, MONDO:0014012, MONDO:0014074, MONDO:0014117, MONDO:0014154, MONDO:0010479, MONDO:0014208, MONDO:0010549, MONDO:0010689, MONDO:0010699 inherited neurodegenerative disorder,neurodegenerative disease,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0338715 disease -UMLS:C0158543 MONDO:0013130, MONDO:0012409, MONDO:0012604, MONDO:0013293, MONDO:0013377, MONDO:0022825, MONDO:0009631, MONDO:0014050 isolated microphthalmia,hereditary disease,human disease,disease -UMLS:C1334410 MONDO:0007959 cerebellar neoplasm,cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0003868 MONDO:0005393 metabolic disease,human disease,disease -UMLS:C3501611 MONDO:0019181 non-syndromic intellectual disability,intellectual disability,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4021727 disease -UMLS:C1859773 MONDO:0008799 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,multiple congenital anomalies/dysmorphic syndrome,developmental defect during embryogenesis,disorder of development or morphogenesis,human disease,disease -UMLS:C0024301 MONDO:0018906 neoplasm of mature B-cells,B-cell neoplasm,leukocyte disorder,immune system disorder,human disease,disease -UMLS:C4302671 MONDO:0013599 autoimmune disorder of endocrine system,endocrine system disorder,human disease,disease -UMLS:C0949690 MONDO:0001434, MONDO:0005095 spondylitis,inflammatory disease,human disease,disease -UMLS:C0339535 MONDO:0016293 night blindness,blindness (disorder),vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C5680182 MONDO:0019497 hearing loss disorder,hearing disorder,auditory system disorder,human disease,disease -UMLS:C0038379 MONDO:0003432 ocular motility disease,cranial nerve neuropathy,nervous system disorder,human disease,disease -UMLS:C3549874 MONDO:0007984 syndromic disease,human disease,disease -UMLS:C0031090 MONDO:0002635 tooth disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0853897 disease -UMLS:C1721006 MONDO:0007758, MONDO:0968949 diffuse palmoplantar keratoderma,hereditary palmoplantar keratoderma,palmoplantar keratosis,keratosis,skin disorder,integumentary system disorder,human disease,disease -UMLS:C3809665 MONDO:0014209 hereditary spastic paraplegia,paraplegia,palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0001956 MONDO:0002046 substance abuse,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C0002874 MONDO:0012197, MONDO:0015909 acquired aplastic anemia,aplastic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0153108 MONDO:0001249 chlamydia trachomatis infectious disease,commensal bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C0948216 MONDO:0002752 adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C2931258 MONDO:0008764, MONDO:0018998 Leber congenital amaurosis,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0376358 MONDO:0008315, MONDO:0023122 male reproductive organ cancer,reproductive system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3160719 MONDO:0008072, MONDO:0100555 IgA nephropathy, susceptibility to,inherited disease susceptibility,disease susceptibility -UMLS:C2675210 MONDO:0012983 cone-rod dystrophy,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0948008 disease -UMLS:C4540185 MONDO:0054727 spermatogenic failure,hereditary disease,human disease,disease -UMLS:C0362046 MONDO:0006920 glucose metabolism disease,metabolic disease,human disease,disease -UMLS:C0028043 MONDO:0008575 drug dependence,substance dependence,substance-related disorder,psychiatric disorder,human disease,disease -UMLS:C1833692 MONDO:0008162 inherited disease susceptibility,disease susceptibility -UMLS:C0004030 MONDO:0005657 opportunistic mycosis,fungal infectious disease,infectious disease,human disease,disease -UMLS:C0033847 MONDO:0009925, MONDO:0024308 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0013990 MONDO:0004849 chronic obstructive pulmonary disease,obstructive lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0025281 MONDO:0007972 endolymphatic hydrops,peripheral vertigo,vestibular disorder,inner ear disorder,auditory system disorder,human disease,disease -UMLS:C4015405 MONDO:0014518 inherited bleeding disorder, platelet-type,hemorrhagic disease,hematologic disorder,human disease,disease -UMLS:C1861502 disease -UMLS:C0236792 MONDO:0005259 autism spectrum disorder,pervasive developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0242343 MONDO:0009876, MONDO:0007794, MONDO:0007844, MONDO:0012528, MONDO:0014461, MONDO:0009482, MONDO:0005152, MONDO:0018555, MONDO:0013910, MONDO:0013911, MONDO:0013912, MONDO:0013913, MONDO:0013914, MONDO:0013915, MONDO:0013926, MONDO:0013946, MONDO:0019591, MONDO:0013961, MONDO:0014102, MONDO:0014103, MONDO:0014105, MONDO:0014106, MONDO:0014107, MONDO:0012880, MONDO:0012988, MONDO:0013006, MONDO:0010615, MONDO:0010635 isolated congenital growth hormone deficiency,combined pituitary hormone deficiencies, genetic form,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3805411 MONDO:0007286 early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0085602 disease -UMLS:C5679932 MONDO:0017402 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C4024960 MONDO:0017092 polymicrogyria,congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0338831 disease -UMLS:C1879286 MONDO:0007240, MONDO:0019490 conduction system disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0024507 MONDO:0009894, MONDO:0015461, MONDO:0019662 Jeune syndrome,ciliopathy,hereditary disease,human disease,disease -UMLS:C3150968 MONDO:0013376 microphthalmia, isolated, with coloboma,isolated microphthalmia,hereditary disease,human disease,disease -UMLS:C0035258 MONDO:0005391 nervous system disorder,human disease,disease -UMLS:C5830586 MONDO:0957382 fatal multiple mitochondrial dysfunctions syndrome,inherited lipoic acid biosynthesis defect,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0007570 MONDO:0005130 autoimmune disorder of gastrointestinal tract,digestive system disorder,human disease,disease -UMLS:C0338503 MONDO:0008428 autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1707291 MONDO:0005563 undifferentiated carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0003076 MONDO:0019172, MONDO:0007119 iris disorder,uveal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0428977 disease -UMLS:C0265260 MONDO:0008703 achondrogenesis,osteochondrodysplasia,bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0079773 MONDO:0000607, MONDO:0015758 primary cutaneous lymphoma,skin cancer,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C0014013 MONDO:0018667 pleural disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0013264 MONDO:0010679 muscular dystrophy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0031099 MONDO:0005593, MONDO:0005076 periodontitis,periodontal disorder,tooth disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1869115 MONDO:0012013, MONDO:0018096 Weill-Marchesani syndrome,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C2752072 MONDO:0013030 familial dilated cardiomyopathy,dilated cardiomyopathy,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C3554517 MONDO:0014046 Cowden disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0158646 MONDO:0016044 orofacial cleft,hereditary disease,human disease,disease -UMLS:C3151037 MONDO:0013397 familial acne inversa,hidradenitis suppurativa,hidradenitis,inflammatory disease,human disease,disease -UMLS:C0027726 MONDO:0005377 syndromic disease,human disease,disease -UMLS:C5681167 disease -UMLS:C0426428 disease -UMLS:C0079683 MONDO:0009182, MONDO:0017612 junctional epidermolysis bullosa,inherited epidermolysis bullosa,epidermolysis bullosa,vesiculobullous skin disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0015398 disease -UMLS:C0020255 MONDO:0001150 brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1843075 MONDO:0011909 autosomal dominant intermediate Charcot-Marie-Tooth disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0007137 MONDO:0005096 squamous cell neoplasm,epithelial neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0025286 MONDO:0016642 tumor of meninges,central nervous system neoplasm,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1846719 MONDO:0000724, MONDO:0011780 language disorder,communication disorder,specific developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0010417 MONDO:0009047 male reproductive system disorder,reproductive system disorder,human disease,disease -UMLS:C3808145 MONDO:0800346 left ventricular noncompaction,intrinsic cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C1175175 MONDO:0005091 respiratory system disorder,human disease,disease -UMLS:C0478085 MONDO:0009183, MONDO:0019307 junctional epidermolysis bullosa,inherited epidermolysis bullosa,epidermolysis bullosa,vesiculobullous skin disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0012716 MONDO:0011176, MONDO:0007937, MONDO:0013480, MONDO:0018100, MONDO:0009550, MONDO:0012717 familial primary hypomagnesemia with normocalcuria,familial primary hypomagnesemia,inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1837245 MONDO:0012137 Carney complex,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1869116 MONDO:0010940 inherited disease susceptibility,disease susceptibility -UMLS:C3887851 disease -UMLS:C0853193 MONDO:0001866, MONDO:0004985 bipolar disorder,mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C3151303 MONDO:0013483, MONDO:0850115 hereditary disease,human disease,disease -UMLS:C0013362 disease -UMLS:C0868847 MONDO:0008770, MONDO:0008771, MONDO:0008772, MONDO:0013181, MONDO:0007538, MONDO:0014385, MONDO:0014540, MONDO:0014560, MONDO:0007092, MONDO:0007093, MONDO:0007094, MONDO:0013906, MONDO:0012926, MONDO:0010521, MONDO:0010522 amelogenesis imperfecta type 1,amelogenesis imperfecta,hereditary disease,human disease,disease -UMLS:C0037268 disease -UMLS:C0013502 MONDO:0005738 Cestode infectious disease,helminthiasis,parasitic infectious disease,infectious disease,human disease,disease -UMLS:C0034935 disease -UMLS:C0152200 MONDO:0018852 color vision disorder,blindness (disorder),vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C0342898 disease -UMLS:C0085110 MONDO:0015974 combined immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C4225313 MONDO:0034022 Bethlem myopathy,progressive muscular dystrophy,muscular dystrophy,myopathy,skeletal muscle disorder,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0025958 MONDO:0001149, MONDO:0016056 disorder of development or morphogenesis,human disease,disease -UMLS:C0007166 disease -UMLS:C4540327 MONDO:0060596 Mendelian neurodevelopmental disorder,hereditary neurological disease,hereditary disease,human disease,disease -UMLS:C0155299 MONDO:0007354 coloboma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0013902 MONDO:0008165, MONDO:0017319 familial hemolytic anemia,hemolytic anemia,normocytic anemia,anemia,hematologic disorder,human disease,disease -UMLS:C0751837 disease -UMLS:C1335469 MONDO:0003538, MONDO:0004967 lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0037763 disease -UMLS:C4751115 MONDO:0013771 hereditary disease,human disease,disease -UMLS:C0015625 MONDO:0019391 congenital anemia,anemia,hematologic disorder,human disease,disease -UMLS:C3278481 MONDO:0000181, MONDO:0009624 microcephaly,disorder of development or morphogenesis,human disease,disease -UMLS:C1866173 disease -UMLS:C5235141 MONDO:0012548 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C5562075 MONDO:0800026, MONDO:0800031 autonomic nervous system disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0023269 MONDO:0005058 smooth muscle cancer,muscle cancer,musculoskeletal system cancer,musculoskeletal system disorder,human disease,disease -UMLS:C0153491 MONDO:0008903 respiratory system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1969053 MONDO:0012694 Joubert syndrome,syndromic disease,human disease,disease -UMLS:C1866029 MONDO:0011169 epidermal disease,skin disorder,integumentary system disorder,human disease,disease -UMLS:C0020514 MONDO:0005804, MONDO:0024305, MONDO:0014250 hyperpituitarism,anterior pituitary gland disorder,pituitary gland disorder,reproductive system disorder,human disease,disease -UMLS:C1857574 MONDO:0000733, MONDO:0009014 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C5681644 MONDO:0020376 early-onset zonular cataract,early-onset partial cataract,early-onset non-syndromic cataract,cataract,lens disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0265010 MONDO:0005160 aortic disorder,arterial disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0006118 MONDO:0001657, MONDO:0021211 central nervous system cancer,nervous system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0158118 disease -UMLS:C4551485 disease -UMLS:C4310778 MONDO:0014848 congenital nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0553707 MONDO:0004993 cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1863052 MONDO:0007088 early-onset autosomal dominant Alzheimer disease,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C5703292 MONDO:0859316 inherited disease susceptibility,disease susceptibility -UMLS:C1291607 MONDO:0060527 hereditary disease,human disease,disease -UMLS:C0042510 MONDO:0000190 cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C4721891 MONDO:0009548 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,familial primary hypomagnesemia,inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0009402 MONDO:0005335, MONDO:0005575, MONDO:0024331 intestinal neoplasm,intestinal disorder,digestive system disorder,human disease,disease -UMLS:C3810089 disease -UMLS:C1845407 MONDO:0010335 X-linked cone-rod dystrophy,X-linked disease,hereditary disease,human disease,disease -UMLS:C5679828 MONDO:0016764 eye disorder,disorder of orbital region,human disease,disease -UMLS:C0020623 MONDO:0001822 inherited lipid metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0263454 disease -UMLS:C0020443 disease -UMLS:C0349204 disease -UMLS:C0040822 disease -UMLS:C0234162 MONDO:0000437 cerebellar disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C3887992 MONDO:0010140 hereditary disease,human disease,disease -UMLS:C4012727 MONDO:0011313, MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,hydrocephalus,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1846862 MONDO:0011764 late-onset Parkinson disease,Parkinson disease,parkinsonian disorder,basal ganglia disorder,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1852767 MONDO:0007351 coloboma,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0024141 MONDO:0007915 lupus erythematosus,rheumatic disorder,connective tissue disorder,human disease,disease -UMLS:C0011609 disease -UMLS:C0740279 disease -UMLS:C1855466 MONDO:0009548 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,familial primary hypomagnesemia,inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C5681589 MONDO:0035713 FOXG1 disorder,pervasive developmental disorder,developmental disorder of mental health,mental disorder,psychiatric disorder,human disease,disease -UMLS:C0010072 MONDO:0006716, MONDO:0005068 thrombotic disease,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C4014563 MONDO:0014384 hypotrichosis,disorder of pilosebaceous unit,integumentary system disorder,human disease,disease -UMLS:C1275808 MONDO:0800026, MONDO:0800031 autonomic nervous system disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C2676023 MONDO:0007272 disorder of vitamin and non-protein cofactor absorption and transport,disorder of metabolite absorption and transport,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0018923 MONDO:0016982 vascular cancer,cardiovascular cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1832662 MONDO:0012039 inherited disease susceptibility,disease susceptibility -UMLS:C0024232 disease -UMLS:C1832425 MONDO:0011058 autosomal dominant nonsyndromic hearing loss,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0036341 MONDO:0005090 psychotic disorder,cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C4282400 MONDO:0008266, MONDO:0020927 postaxial polydactyly type A,postaxial polydactyly,non-syndromic polydactyly,polydactyly,hereditary disease,human disease,disease -UMLS:C4751111 MONDO:0014831 hereditary disorder of connective tissue,hereditary disease,human disease,disease -UMLS:C0238111 MONDO:0016532 childhood electroclinical syndrome,electroclinical syndrome,epilepsy,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C4015080 MONDO:0014473 autosomal recessive primary microcephaly,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0153413 MONDO:0007576 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C4551495 MONDO:0009430, MONDO:0017324 autosomal recessive hypophosphatemic rickets,hereditary hypophosphatemic rickets,hereditary disease,human disease,disease -UMLS:C4014553 disease -UMLS:C0078918 MONDO:0018910 disorder of melanin metabolism,inborn disorder of amino acid and other organic acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C4025739 disease -UMLS:C4551501 MONDO:0007101, MONDO:0024522 primary cutaneous amyloidosis,amyloidosis,proteostasis deficiencies,metabolic disease,human disease,disease -UMLS:C1858656 MONDO:0011420, MONDO:0014403 pituitary dwarfism,adrenal gland disorder,endocrine system disorder,human disease,disease -UMLS:C0019829 MONDO:0004952, MONDO:0009348 lymphoma,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0011053 disease -UMLS:C3280215 MONDO:0013642 holoprosencephaly,syndromic disease,human disease,disease -UMLS:C0014859 MONDO:0007576, MONDO:0021355 digestive system cancer,digestive system disorder,human disease,disease -UMLS:C0026266 MONDO:0001298 vascular insufficiency disorder,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0005745 MONDO:0000728 eye disorder,disorder of orbital region,human disease,disease -UMLS:C1842073 MONDO:0012033 retinal disorder,nervous system disorder,human disease,disease -UMLS:C0017920 MONDO:0002413 disorder of glycogen metabolism,inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0031572 MONDO:0001247 phobic disorder,anxiety disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C4024936 disease -UMLS:C1854369 MONDO:0011540 autosomal dominant cerebellar ataxia type I,autosomal dominant cerebellar ataxia,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0026827 disease -UMLS:C4310691 MONDO:0014942 undetermined early-onset epileptic encephalopathy,inborn disorder of amino acid transport,inborn disorder of amino acid metabolism,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0343047 MONDO:0012295 classic complement early component deficiency,complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C0027708 MONDO:0003321, MONDO:0008679, MONDO:0006058, MONDO:0019004 kidney Wilms tumor,kidney cancer,malignant urinary system neoplasm,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0003431 MONDO:0001164 personality disorder,psychiatric disorder,human disease,disease -UMLS:C0268138 MONDO:0010212 xeroderma pigmentosum-Cockayne syndrome complex,syndromic disease,human disease,disease -UMLS:C0025521 MONDO:0019052 hereditary disease,human disease,disease -UMLS:C1857025 disease -UMLS:C0023860 MONDO:0005828 primary bacterial infectious disease,bacterial infectious disease,infectious disease,human disease,disease -UMLS:C3151066 MONDO:0013413 retinitis pigmentosa,inherited retinal dystrophy,retinal degeneration,retinal disorder,nervous system disorder,human disease,disease -UMLS:C0178324 disease -UMLS:C0017919 MONDO:0002412, MONDO:0010362, MONDO:0010598 inborn carbohydrate metabolic disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C1853371 MONDO:0011668 maturity-onset diabetes of the young,monogenic diabetes,diabetes mellitus,endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0206710 MONDO:0005341, MONDO:0020799 skin squamous cell carcinoma,skin carcinoma,skin cancer,integumentary system cancer,integumentary system disorder,human disease,disease -UMLS:C0086468 disease -UMLS:C3541471 MONDO:0007415, MONDO:0020811 mitochondrial complex III deficiency, nuclear type,mitochondrial complex III deficiency,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C4510864 MONDO:0014276 combined immunodeficiency,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0242788 MONDO:0005628 breast carcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0029516 MONDO:0005485 cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C2051831 MONDO:0008213 hereditary disease,human disease,disease -UMLS:C4016265 disease -UMLS:C1449843 MONDO:0009917, MONDO:0008329, MONDO:0018638 pseudohypoaldosteronism type 1,inherited renal tubular disease,renal tubule disorder,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0398765 MONDO:0015700 complement deficiency,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C3809781 MONDO:0014227 autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C1578917 MONDO:0007834 endocrine pancreas disorder,pancreas disorder,digestive system disorder,human disease,disease -UMLS:C0029458 MONDO:0008159 osteoporosis,bone resorption disease,bone remodeling disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0024299 MONDO:0005062 lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1970431 MONDO:0012589 syndromic disease,human disease,disease -UMLS:C5190862 MONDO:0018487 autosomal recessive severe congenital neutropenia,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0040034 MONDO:0002049 blood platelet disease,hematologic disorder,human disease,disease -UMLS:C0393598 MONDO:0003441, MONDO:0007492, MONDO:0007493, MONDO:0007495, MONDO:0011264, MONDO:0011886, MONDO:0008044, MONDO:0014627, MONDO:0013813, MONDO:0009141, MONDO:0000476, MONDO:0014033, MONDO:0044816, MONDO:0012895, MONDO:0010747 extrapyramidal and movement disease,movement disorder,nervous system disorder,human disease,disease -UMLS:C1842060 disease -UMLS:C3806482 disease -UMLS:C0525045 MONDO:0005371 mental disorder,psychiatric disorder,human disease,disease -UMLS:C0152236 disease -UMLS:C0004238 MONDO:0004981 cardiac rhythm disease,heart disorder,cardiovascular disorder,human disease,disease -UMLS:C3280030 MONDO:0013607, MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML,immunodeficiency disease,hereditary disease,human disease,disease -UMLS:C0011570 MONDO:0002050 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C5191005 MONDO:0013478 familial partial lipodystrophy,hereditary lipodystrophy,lipodystrophy,metabolic disease,human disease,disease -UMLS:C0153461 MONDO:0005184 tubular adenocarcinoma,adenocarcinoma,carcinoma,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1850900 MONDO:0007650 hereditary disease,human disease,disease -UMLS:C4551972 MONDO:0000141 hereditary neoplastic syndrome,hereditary disease,human disease,disease -UMLS:C1861848 MONDO:0011544, MONDO:0007273 paraganglioma,autonomic nervous system neoplasm,autonomic nervous system disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1846896 MONDO:0011762 hearing loss, autosomal recessive,autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0431362 MONDO:0019756, MONDO:0016296 holoprosencephaly,syndromic disease,human disease,disease -UMLS:C0949595 MONDO:0009299, MONDO:0024463 gonadal dysgenesis,hypogonadism,gonadal disorder,reproductive system disorder,human disease,disease -UMLS:C1858501 MONDO:0011439 autosomal dominant cerebellar ataxia type I,autosomal dominant cerebellar ataxia,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C4016055 disease -UMLS:C4229399 disease -UMLS:C0376545 MONDO:0002334, MONDO:0044881 neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C1836906 MONDO:0012180 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C2673535 MONDO:0011551 autosomal recessive disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0232466 disease -UMLS:C4480969 MONDO:0007100 hereditary amyloidosis,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0042029 MONDO:0005247, MONDO:0100338 bacterial infectious disease,infectious disease,human disease,disease -UMLS:C5569081 MONDO:0014775 combined oxidative phosphorylation deficiency,mitochondrial oxidative phosphorylation disorder,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0522224 MONDO:0006496 central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1832931 MONDO:0011484 familial isolated arrhythmogenic right ventricular dysplasia,familial cardiomyopathy,cardiomyopathy,muscle tissue disorder,musculoskeletal system disorder,human disease,disease -UMLS:C5436712 MONDO:0033650 mitochondrial complex IV deficiency, nuclear-type,mitochondrial complex deficiency,inborn mitochondrial metabolism disorder,developmental anomaly of metabolic origin,metabolic disease,human disease,disease -UMLS:C0158733 disease -UMLS:C0040411 MONDO:0004631, MONDO:0021240 sensory system cancer,nervous system cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3275495 MONDO:0010465 Kabuki syndrome,syndromic disease,human disease,disease -UMLS:C3552634 MONDO:0013081 lymphoproliferative syndrome,inborn error of immunity,immune deficiency disease,hereditary disease,human disease,disease -UMLS:C3280489 MONDO:0013691 Feingold syndrome,autosomal dominant disease,autosomal genetic disease,hereditary disease,human disease,disease -UMLS:C0241240 disease -UMLS:C1519086 MONDO:0016692 pilocytic astrocytoma,low-grade astrocytoma,astrocytoma (excluding glioblastoma),astrocytic tumor,glioma,neuroepithelial neoplasm,nervous system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0002622 MONDO:0001152 cognitive disorder,psychiatric disorder,human disease,disease -UMLS:C0021843 MONDO:0004565 intestinal disorder,digestive system disorder,human disease,disease -UMLS:C2675659 disease -UMLS:C4284595 MONDO:0014878 patent ductus arteriosus,vascular disorder,cardiovascular disorder,human disease,disease -UMLS:C0345049 disease -UMLS:C0149519 MONDO:0002251 liver disorder,hepatobiliary disorder,digestive system disorder,human disease,disease -UMLS:C3888102 MONDO:0007105, MONDO:0017161, MONDO:0030923 familial amyotrophic lateral sclerosis,amyotrophic lateral sclerosis,anterior horn disorder,spinal cord disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0035220 MONDO:0009971, MONDO:0100077, MONDO:0700081 newborn respiratory distress syndrome,primary interstitial lung disease specific to childhood,interstitial lung disease specific to childhood,interstitial lung disease,lung disorder,lower respiratory tract disorder,respiratory system disorder,human disease,disease -UMLS:C0036457 MONDO:0006961 prion disease,brain disorder,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C1834752 MONDO:0000070 inherited disease susceptibility,disease susceptibility -UMLS:C4021107 disease -UMLS:C0268312 MONDO:0015762 syndromic disease,human disease,disease -UMLS:C0206686 MONDO:0006639 vascular cancer,cardiovascular cancer,cancer,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C3553788 MONDO:0013900 alternating hemiplegia of childhood,hemiplegia,palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0027707 MONDO:0001085 nephritis,kidney disorder,urinary system disorder,human disease,disease -UMLS:C0023493 MONDO:0019471 adult lymphoma,lymphoma,lymphoid neoplasm,hematopoietic and lymphoid cell neoplasm,hematopoietic and lymphoid system neoplasm,neoplasm,neoplastic disease or syndrome,cancer or benign tumor,human disease,disease -UMLS:C0008449 MONDO:0005516, MONDO:0020779 bone development disease,bone disorder,skeletal system disorder,musculoskeletal system disorder,human disease,disease -UMLS:C0018991 MONDO:0001170 palsy,central nervous system disorder,nervous system disorder,human disease,disease -UMLS:C0339537 MONDO:0010563 achromatopsia,color vision disorder,blindness (disorder),vision disorder,perceptual disorders,psychiatric disorder,human disease,disease -UMLS:C0751815 disease -UMLS:C1852557 MONDO:0000733, MONDO:0007372 corneal disorder,eye disorder,disorder of orbital region,human disease,disease -UMLS:C0013415 MONDO:0001442 mood disorder,mental disorder,psychiatric disorder,human disease,disease -UMLS:C1854988 MONDO:0009643, MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency,inborn metal metabolism disorder,inborn errors of metabolism,hereditary disease,human disease,disease -UMLS:C0019243 MONDO:0019623 angioedema,urticaria,dermatitis,skin disorder,integumentary system disorder,human disease,disease