metabolic disorders	DOID:0014667
aspirin-induced asthma	DOID:0040002
familial adenomatous polyposis	DOID:0050424
xeroderma pigementosum	DOID:0050427
xeroderma pigmentosum	DOID:0050427
Hailey-Hailey disease	DOID:0050429
infantile Refsum disease	DOID:0050444
mevalonicaciduria	DOID:0050452
Lissencephaly	DOID:0050453
Wolf-Hirschhorn syndrome	DOID:0050460
Antley-Bixler syndrome	DOID:0050462
Costello syndrome	DOID:0050469
Carney complex	DOID:0050471
Liddle syndrome	DOID:0050477
neuromyotonia	DOID:0050526
nonphotosensitive trichothiodystrophy	DOID:0050528
hypermethioninemia	DOID:0050544
Walker-Warburg syndrome	DOID:0050560
West syndrome	DOID:0050562
deafness	DOID:0050563
Seckel syndrome	DOID:0050569
CDG-Ii	DOID:0050570
2-hydroxyglutaric aciduria	DOID:0050573
Aicardi-Goutieres syndrome	DOID:0050629
Allan-Herndon-Dudley syndrome	DOID:0050631
arterial calcification of infancy	DOID:0050644
Arts syndrome	DOID:0050647
Baller-Gerold syndrome	DOID:0050654
Birt-Hogg-Dube syndrome	DOID:0050676
Bjornstad syndrome	DOID:0050677
Bowen-Conradi syndrome	DOID:0050684
hypercalciuric nephrolithiasis	DOID:0050699
mitochondrial cardiomyopathy	DOID:0050713
hyperornithinemia	DOID:0050720
phosphoglycerate dehydrogenase deficiency	DOID:0050722
coenzyme Q deficiency	DOID:0050730
amyotrophic lateral sclerosis type 8	DOID:0050752
oculomotor apraxia 1	DOID:0050754
ataxia-ocular apraxia type 2	DOID:0050755
dystonia-deafness syndrome	DOID:0050757
metabolic acidosis	DOID:0050758
myotonic dystrophy type 2	DOID:0050759
X-linked myopathy with excessive autophagy	DOID:0050760
paramyloidosis	DOID:0050761
adenylosuccinase deficiency	DOID:0050762
ARC syndrome	DOID:0050763
chorea-acanthocytosis	DOID:0050766
N syndrome	DOID:0050769
polycystic liver disease	DOID:0050770
pheochromocytoma	DOID:0050771
paraganglioma	DOID:0050773
Rapadilino syndrome	DOID:0050774
Schneckenbecken dysplasia	DOID:0050775
X-linked non-specific mental retardation	DOID:0050776
non-syndromic X-linked intellectual disability	DOID:0050776
Ogden syndrome	DOID:0050781
Perrault syndrome	DOID:0050857
IBMPFD	DOID:0050881
infantile cerebellar-retinal degeneration	DOID:0050883
spastic ataxia 2	DOID:0050941
spastic ataxia 3	DOID:0050942
spastic ataxia 4	DOID:0050943
spastic ataxia 5	DOID:0050944
spinocerebellar ataxia	DOID:0050951
ataxia	DOID:0050951
spinocerebellar ataxia type 2	DOID:0050955
spinocerebellar ataxia type 7	DOID:0050958
spinocerebellar ataxia type 10	DOID:0050960
spinocerebellar ataxia type 12	DOID:0050962
spinocerebellar ataxia type 17	DOID:0050967
autosomal dominant cerebellar ataxia, deafness and narcolepsy	DOID:0050968
spinocerebellar ataxia type 26	DOID:0050975
dominent ataxia SCA28	DOID:0050977
spinocerebellar ataxia type 28	DOID:0050977
spinocerebellar ataxia type 34	DOID:0050981
spinocerebellar ataxia type 36	DOID:0050983
spinocerebellar ataxia type 38	DOID:0050985
autosomal recessive spinocerebellar ataxia 10	DOID:0050999
LIG4 syndrome	DOID:0060021
developmental disorders	DOID:0060037
congenital sideroblastic anemia	DOID:0060065
organic aciduria	DOID:0060159
4-hydroxybutyricaciduria	DOID:0060175
amyotrophic lateral sclerosis type 1	DOID:0060193
amyotrophic lateral sclerosis type 4	DOID:0060196
amyotrophic lateral sclerosis type 11	DOID:0060202
amyotrophic lateral sclerosis type 14	DOID:0060205
amyotrophic lateral sclerosis type 15	DOID:0060206
amyotrophic lateral sclerosis type 16	DOID:0060207
FTDALS2	DOID:0060214
UV-sensitive syndrome	DOID:0060240
pontocerebellar hypoplasia type 1B	DOID:0060266
pontocerebellar hypoplasia type 2A	DOID:0060267
pontocerebellar hypoplasia type 2B	DOID:0060268
pontocerebellar hypoplasia type 2C	DOID:0060269
pontocerebellar hypoplasia type 2E	DOID:0060271
pontocerebellar hypoplasia type 4	DOID:0060273
pontocerebellar hypoplasia type 5	DOID:0060274
pontocerebellar hypoplasia type 6	DOID:0060275
pontocerebellar hypoplasia type 9	DOID:0060278
pontocerebellar hypoplasia type 10	DOID:0060279
paroxysmal nocturnal haemoglobinuria	DOID:0060284
combined oxidative phosphorylation deficiency	DOID:0060286
Meier-Gorlin syndrome	DOID:0060306
cardiac arrest	DOID:0060319
mitochondrial complex V deficiency, nuclear 2	DOID:0060331
adenine phosphoribosyltransferase deficiency	DOID:0060350
amyotrophic lateral sclerosis type 22	DOID:0060355
chylomicron retention disease	DOID:0060357
glutaric acidemia type II	DOID:0060358
lysinuric protein intolerance	DOID:0060439
Perlman syndrome	DOID:0060476
Shwachman-Bodian-Diamond syndrome	DOID:0060479
Warsaw breakage syndrome	DOID:0060535
infantile leukoencephalopathy	DOID:0060537
poikiloderma with neutropenia	DOID:0060551
familial Kufor-Rakeb syndrome	DOID:0060556
Kufor-Rakeb syndrome	DOID:0060556
anencephaly	DOID:0060668
Pendred Syndrome	DOID:0060744
microvillus inclusion disease	DOID:0060775
MEHMO syndrome	DOID:0060801
Christianson syndrome	DOID:0060825
Griscelli syndrome type 1	DOID:0060832
macrocephaly-autism syndrome	DOID:0060867
autosomal recessive early-onset Parkinson's disease 23	DOID:0060896
Parkinson's disease 17	DOID:0060897
early-onset Parkinson's disease 20	DOID:0060898
interstitial nephritis, karyomegalic	DOID:0060911
Seckel syndrome 1	DOID:0070007
Seckel syndrome 10	DOID:0070008
Seckel syndrome 8	DOID:0070009
Seckel syndrome 2	DOID:0070013
schizophrenia 4	DOID:0070080
oculocutaneous albinism type IV	DOID:0070098
Lynch syndrome 1	DOID:0070271
hereditary nonpolyposis colorectal cancer type 5	DOID:0070272
hereditary nonpolyposis colorectal cancer type 4	DOID:0070275
primary microcephaly	DOID:0070297
craniolenticulosutural dysplasia	DOID:0070307
aneuploidy	DOID:0080014
spina bifida	DOID:0080016
autosomal recessive spinocerebellar ataxia 2	DOID:0080061
nonprogressive congenital ataxia	DOID:0080064
mitochondrial DNA depletion syndrome 5	DOID:0080124
infantile hepatic mitochondrial DNA depletion	DOID:0080125
mitochondrial DNA depletion syndrome 9	DOID:0080128
multiple mitochondrial dysfunctions syndrome 1	DOID:0080133
multiple mitochondrial dysfunctions syndrome type 2	DOID:0080134
lactic acidosis, hyperglycinemia	DOID:0080134
multiple mitochondrial dysfunctions syndrome 3	DOID:0080135
multiple mitochondrial dysfunctions syndrome 4	DOID:0080136
Marinesco-Sjogren syndrome	DOID:0080195
mandibulofacial dysostosis, Guion-Almeida type	DOID:0080196
Galloway-Mowat syndrome 2	DOID:0080244
Galloway-Mowat syndrome 3	DOID:0080245
Galloway-Mowat syndrome 4	DOID:0080246
Galloway-Mowat syndrome 5	DOID:0080247
autosomal recessive spinocerebellar ataxia 25	DOID:0080259
multiple mitochondrial dysfunctions syndrome 5	DOID:0080274
paroxysmal nonkinesiogenic dyskinesia	DOID:0090033
Wolcott-Rallison syndrome	DOID:0090060
spinocerebellar ataxia type 1 with axonal neuropathy	DOID:0090115
Costeff syndrome	DOID:0110004
atrial heart septal defect 3	DOID:0110108
atrial heart septal defect 5	DOID:0110110
atrial heart septal defect 9	DOID:0110114
Charcot-Marie-Tooth disease X-linked recessive 5	DOID:0110210
Cowchock syndrome	DOID:0110212
Brugada syndrome 2	DOID:0110219
hypertrophic cardiomyopathy 1	DOID:0110307
hypertrophic cardiomyopathy 6	DOID:0110312
hypertrophic cardiomyopathy 8	DOID:0110314
hypertrophic cardiomyopathy 10	DOID:0110316
hypertrophic cardiomyopathy 11	DOID:0110317
hypertrophic cardiomyopathy 14	DOID:0110320
dilated cardiomyopathy 1AA	DOID:0110428
dilated cardiomyopathy 1GG	DOID:0110435
dilated cardiomyopathy 1II	DOID:0110450
dilated cardiomyopathy 1EE	DOID:0110453
dilated cardiomyopathy 1S	DOID:0110454
dilated cardiomyopathy 1R	DOID:0110456
long QT syndrome 14	DOID:0110655
long QT syndrome 15	DOID:0110656
Warburg micro syndrome 4	DOID:0110719
infantile neuronal ceroid lipofuscinosis	DOID:0110721
Batten's disease	DOID:0110731
neurodegeneration with brain iron accumulation 5	DOID:0110739
neurodegeneration with brain iron accumulation 6	DOID:0110740
Berardinelli-Seip congenital lipodystrophy type 2, Silver spastic paraplegia syndrome, distal hereditary motor neuropathy type V	DOID:0110770
xeroderma pigementosum, variant type	DOID:0110847
autosomal recessive distal spinal muscular atrophy 1	DOID:0111064
autosomal recessive distal spinal muscular atrophy 2	DOID:0111065
Nephronophthisis-like nephropathy 1	DOID:0111117
Berardinelli-Seip congenital lipodystrophy type 2, Silver spastic paraplegia syndrome, distal hereditary motor neuropathy type V	DOID:0111136
mitochondrial complex III deficiency	DOID:0111139
ATPAF2 deficiency	DOID:0111143
NARP	DOID:0111143
autosomal recessive spinocerebellar ataxia 21	DOID:0111155
autosomal dominant sensory ataxia 1	DOID:0111170
cholesterinosis	DOID:10254
Lowe syndrome	DOID:1056
oculocerebrorenal syndrome	DOID:1056
leukoencephalopathy	DOID:10579
leukodystrophy	DOID:10579
metachromatic leukodystrophy	DOID:10581
adult Refsum disease	DOID:10582
retinitis pigmentosa	DOID:10584
mental retardation	DOID:1059
Charcot-Marie-Tooth disease	DOID:10595
microphthalmia	DOID:10629
Alzheimer's disease	DOID:10652
primary open-angle glaucoma	DOID:1070
methemoglobinemia	DOID:10783
microcephaly	DOID:10907
Alport syndrome	DOID:10983
heart disease	DOID:114
familial dysautonomia	DOID:11589
phosphofructokinase deficiency	DOID:11721
Cornelia de Lange syndrome	DOID:11725
Graves' disease	DOID:12361
progressive external ophthalmoplegia	DOID:12558
ataxia-telangiectasia	DOID:12704
Friedreich's ataxia	DOID:12705
Maroteaux-Lamy syndrome	DOID:12800
Morquio syndrome type A	DOID:12804
Sjogren's syndrome	DOID:12894
Werdnig-Hoffmann disease	DOID:13137
porphyria	DOID:13268
Diamond-Blackfan anemia	DOID:1339
tumor suppressor syndrome, tuberous sclereosis	DOID:13515
tumor suppressor syndrome	DOID:13515
cholestasis	DOID:13580
Fanconi anemia	DOID:13636
familial hypercholesterolemia	DOID:13810
gyrate atrophy of choroid and retina	DOID:1415
hypophosphatasia	DOID:14213
renal tubular acidosis	DOID:14219
Parkinson's disease	DOID:14330
Alpers-Huttenlocher syndrome	DOID:1442
Wolman disease	DOID:14497
Fabry disease	DOID:14499
cholesteryl ester storage disease	DOID:14502
Niemann-Pick disease	DOID:14504
Johanson-Blizzard syndrome	DOID:14694
galactokinase deficiency with cataracts	DOID:14695
beta-ketothiolase deficiency	DOID:14723
arginosuccinicaciduria	DOID:14755
argininosuccinic aciduria	DOID:14755
cartilage-hair hypoplasia	DOID:14773
breast cancer	DOID:1612
cancer	DOID:162
epilepsy	DOID:1826
Lesch-Nyhan syndrome	DOID:1919
Kelley-Seegmiller syndrome	DOID:1919
Williams-Beuren syndrome	DOID:1928
motor neurone disease	DOID:231
hereditary spastic paraplegia	DOID:2476
encephalopathy	DOID:2481
rhizomelic chondrodysplasia punctata (RCDP)	DOID:2580
acatalasemia	DOID:2582
Bloom's syndrome	DOID:2717
dyskeratosis congenita	DOID:2729
Rothmund-Thomsom syndrome	DOID:2732
glycogen storage disorders	DOID:2747
glycogen storage cardiomyopathy	DOID:2747
Pompe disease	DOID:2752
phosphoglycerate mutase deficiency	DOID:2754
chronic non-spherocytic hemolytic anemia	DOID:2861
6-phosphogluconate dehydrogenase deficiency	DOID:2862
G6PD deficiency	DOID:2862
thyroid adenoma	DOID:2891
Treacher Collins syndrome	DOID:2908
Chediak-Higashi syndrome	DOID:2935
photosensitive trichothiodystrophy	DOID:2960
Cockayne syndrome	DOID:2962
hyperoxaluria	DOID:2977
carbohydrate metabolism disorders	DOID:2978
Li-Fraumeni syndrome	DOID:3012
fatty acid metabolism disorders	DOID:3146
nemaline myopathy	DOID:3191
lysosomal storage disorders	DOID:3211
lysosomal storage disorder	DOID:3211
amyotrophic lateral sclerosis	DOID:332
lactic acidosis	DOID:3650
pyruvate carboxylase deficiency	DOID:3651
Leigh syndrome	DOID:3652
Salla disease	DOID:3659
skin disorders	DOID:37
cytochrome c oxidase deficiency	DOID:3762
Coffin-Lowry syndrome	DOID:3783
Wolff-Parkinson-White syndrome	DOID:384
renal cell cancer	DOID:4450
striatonigral degeneration	DOID:4751
glycosylation disorders	DOID:5212
congenital disorders of glycosylation	DOID:5212
human infertility	DOID:5223
schizophrenia	DOID:5419
dystonia	DOID:543
optic atrophy	DOID:5723
hemolytic anemia	DOID:583
immunodeficiency	DOID:612
SCID	DOID:627
Cowden syndrome	DOID:6457
purine-pyrimidine metabolism disorders	DOID:653
hepatoma	DOID:684
mitochondrial myopathy	DOID:699
mitochondrial disorders	DOID:700
respiratory chain defects	DOID:700
succinate-CoA ligase deficiency	DOID:700
arthritis	DOID:7148
axonal neuropathy	DOID:7319
Nijmegen breakage syndrome	DOID:7400
vascular disorder glomuvenous malformation	DOID:7996
lipodystrophy	DOID:811
multiple carboxylase deficiency	DOID:857
holocarboxylase synthetase deficiency	DOID:859
neurological disorders	DOID:863
progressive myoclonus epilepsy	DOID:891
Wilson disease	DOID:893
Zellweger syndrome	DOID:905
peroxisomal defects	DOID:906
peroxisomal metabolism disorders	DOID:906
acute myeloid leukemia	DOID:9119
Wiskott-Aldrich syndrome	DOID:9169
Barrett's oesophagus	DOID:9206
amino acid metabolism disorders	DOID:9252
colorectal cancer	DOID:9256
homocystinuria	DOID:9263
cystinuria	DOID:9266
urea cycle disorders	DOID:9267
hyperglycinemia	DOID:9268
glycine encephalopathy	DOID:9268
maple syrup urine disease type II	DOID:9269
maple syrup urine disease	DOID:9269
ornithine transcarbamylase deficiency	DOID:9271
citrullinaemia type I	DOID:9273
hyperlysinemia	DOID:9274
argininemia	DOID:9278
arginase deficiency	DOID:9278
carbamoyl-phosphate synthetase I deficiency	DOID:9280
diabetes	DOID:9351
galactosemia	DOID:9870
muscular dystrophy	DOID:9884