metabolic disorders	MONDO:0005066
aspirin-induced asthma	MONDO:0025518
familial adenomatous polyposis	MONDO:0021055
xeroderma pigementosum	MONDO:0019600
xeroderma pigmentosum	MONDO:0019600
Hailey-Hailey disease	MONDO:0008218
infantile Refsum disease	MONDO:0019174
mevalonicaciduria	MONDO:0012481
Lissencephaly	MONDO:0018838
Wolf-Hirschhorn syndrome	MONDO:0008684
Antley-Bixler syndrome	MONDO:0008803
Costello syndrome	MONDO:0009026
Carney complex	MONDO:0015285
Liddle syndrome	MONDO:0008323
neuromyotonia	MONDO:0007646
nonphotosensitive trichothiodystrophy	MONDO:0021013
hypermethioninemia	MONDO:0000351
Walker-Warburg syndrome	MONDO:0019523
West syndrome	MONDO:0018097
deafness	MONDO:0019497
Seckel syndrome	MONDO:0019342
CDG-Ii	MONDO:0005500
2-hydroxyglutaric aciduria	MONDO:0016001
Aicardi-Goutieres syndrome	MONDO:0018866
Allan-Herndon-Dudley syndrome	MONDO:0010354
arterial calcification of infancy	MONDO:0018870
Arts syndrome	MONDO:0010533
Baller-Gerold syndrome	MONDO:0009039
Birt-Hogg-Dube syndrome	MONDO:0007607
Bjornstad syndrome	MONDO:0009872
Bowen-Conradi syndrome	MONDO:0008879
hypercalciuric nephrolithiasis	MONDO:0015612
mitochondrial cardiomyopathy	MONDO:0015487
hyperornithinemia	MONDO:0009393
phosphoglycerate dehydrogenase deficiency	MONDO:0011152
coenzyme Q deficiency	MONDO:0018151
amyotrophic lateral sclerosis type 8	MONDO:0012077
oculomotor apraxia 1	MONDO:0008842
ataxia-ocular apraxia type 2	MONDO:0018996
dystonia-deafness syndrome	MONDO:0010578
metabolic acidosis	MONDO:0000440
myotonic dystrophy type 2	MONDO:0011266
X-linked myopathy with excessive autophagy	MONDO:0010684
paramyloidosis	MONDO:0007100
adenylosuccinase deficiency	MONDO:0007068
ARC syndrome	MONDO:0017123
chorea-acanthocytosis	MONDO:0008695
N syndrome	MONDO:0010686
polycystic liver disease	MONDO:0000447
pheochromocytoma	MONDO:0008233
paraganglioma	MONDO:0000448
Rapadilino syndrome	MONDO:0009955
Schneckenbecken dysplasia	MONDO:0010013
X-linked non-specific mental retardation	MONDO:0019181
non-syndromic X-linked intellectual disability	MONDO:0019181
Ogden syndrome	MONDO:0010457
Perrault syndrome	MONDO:0017312
IBMPFD	MONDO:0000507
infantile cerebellar-retinal degeneration	MONDO:0013802
spastic ataxia 2	MONDO:0012651
spastic ataxia 3	MONDO:0012664
spastic ataxia 4	MONDO:0013354
spastic ataxia 5	MONDO:0013776
spinocerebellar ataxia	MONDO:0000557
ataxia	MONDO:0000557
spinocerebellar ataxia type 2	MONDO:0008458
spinocerebellar ataxia type 7	MONDO:0008120
spinocerebellar ataxia type 10	MONDO:0011330
spinocerebellar ataxia type 12	MONDO:0011439
spinocerebellar ataxia type 17	MONDO:0011781
autosomal dominant cerebellar ataxia, deafness and narcolepsy	MONDO:0011397
spinocerebellar ataxia type 26	MONDO:0012246
dominent ataxia SCA28	MONDO:0012450
spinocerebellar ataxia type 28	MONDO:0012450
spinocerebellar ataxia type 34	MONDO:0007574
spinocerebellar ataxia type 36	MONDO:0013594
spinocerebellar ataxia type 38	MONDO:0014417
autosomal recessive spinocerebellar ataxia 10	MONDO:0013392
LIG4 syndrome	MONDO:0011686
developmental disorders	MONDO:0005503
congenital sideroblastic anemia	MONDO:0008785
organic aciduria	MONDO:0000688
4-hydroxybutyricaciduria	MONDO:0010083
amyotrophic lateral sclerosis type 1	MONDO:0007103
amyotrophic lateral sclerosis type 4	MONDO:0011223
amyotrophic lateral sclerosis type 11	MONDO:0012945
amyotrophic lateral sclerosis type 14	MONDO:0013501
amyotrophic lateral sclerosis type 15	MONDO:0010459
amyotrophic lateral sclerosis type 16	MONDO:0013715
FTDALS2	MONDO:0014395
UV-sensitive syndrome	MONDO:0015797
pontocerebellar hypoplasia type 1B	MONDO:0013853
pontocerebellar hypoplasia type 2A	MONDO:0010190
pontocerebellar hypoplasia type 2B	MONDO:0012890
pontocerebellar hypoplasia type 2C	MONDO:0012891
pontocerebellar hypoplasia type 2E	MONDO:0014370
pontocerebellar hypoplasia type 4	MONDO:0009166
pontocerebellar hypoplasia type 5	MONDO:0012438
pontocerebellar hypoplasia type 6	MONDO:0012683
pontocerebellar hypoplasia type 9	MONDO:0014351
pontocerebellar hypoplasia type 10	MONDO:0014349
paroxysmal nocturnal haemoglobinuria	MONDO:0018641
combined oxidative phosphorylation deficiency	MONDO:0000732
Meier-Gorlin syndrome	MONDO:0016817
cardiac arrest	MONDO:0000745
mitochondrial complex V deficiency, nuclear 2	MONDO:0013546
adenine phosphoribosyltransferase deficiency	MONDO:0013869
amyotrophic lateral sclerosis type 22	MONDO:0014531
chylomicron retention disease	MONDO:0009528
glutaric acidemia type II	MONDO:0009282
lysinuric protein intolerance	MONDO:0009109
Perlman syndrome	MONDO:0009965
Shwachman-Bodian-Diamond syndrome	MONDO:0009833
Warsaw breakage syndrome	MONDO:0013252
infantile leukoencephalopathy	MONDO:0009641
poikiloderma with neutropenia	MONDO:0011405
familial Kufor-Rakeb syndrome	MONDO:0011706
Kufor-Rakeb syndrome	MONDO:0011706
anencephaly	MONDO:0000819
Pendred Syndrome	MONDO:0010134
microvillus inclusion disease	MONDO:0009635
MEHMO syndrome	MONDO:0010258
Christianson syndrome	MONDO:0010278
Griscelli syndrome type 1	MONDO:0008962
macrocephaly-autism syndrome	MONDO:0011537
autosomal recessive early-onset Parkinson's disease 23	MONDO:0014796
Parkinson's disease 17	MONDO:0013625
early-onset Parkinson's disease 20	MONDO:0014233
interstitial nephritis, karyomegalic	MONDO:0013898
Seckel syndrome 1	MONDO:0008869
Seckel syndrome 10	MONDO:0014991
Seckel syndrome 8	MONDO:0014350
Seckel syndrome 2	MONDO:0011715
schizophrenia 4	MONDO:0010943
oculocutaneous albinism type IV	MONDO:0011683
Lynch syndrome 1	MONDO:0007356
hereditary nonpolyposis colorectal cancer type 5	MONDO:0013710
primary microcephaly	MONDO:0001149
craniolenticulosutural dysplasia	MONDO:0011911
aneuploidy	MONDO:0019040
spina bifida	MONDO:0008449
autosomal recessive spinocerebellar ataxia 2	MONDO:0008943
nonprogressive congenital ataxia	MONDO:0014503
mitochondrial DNA depletion syndrome 5	MONDO:0012791
infantile hepatic mitochondrial DNA depletion	MONDO:0009747
mitochondrial DNA depletion syndrome 9	MONDO:0009504
multiple mitochondrial dysfunctions syndrome 1	MONDO:0011582
multiple mitochondrial dysfunctions syndrome type 2	MONDO:0013675
lactic acidosis, hyperglycinemia	MONDO:0013675
multiple mitochondrial dysfunctions syndrome 3	MONDO:0014132
multiple mitochondrial dysfunctions syndrome 4	MONDO:0014611
Marinesco-Sjogren syndrome	MONDO:0009567
mandibulofacial dysostosis, Guion-Almeida type	MONDO:0012516
Galloway-Mowat syndrome 2	MONDO:0033006
Galloway-Mowat syndrome 3	MONDO:0033007
Galloway-Mowat syndrome 4	MONDO:0033008
Galloway-Mowat syndrome 5	MONDO:0033009
autosomal recessive spinocerebellar ataxia 25	MONDO:0033115
multiple mitochondrial dysfunctions syndrome 5	MONDO:0033282
paroxysmal nonkinesiogenic dyskinesia	MONDO:0000903
Wolcott-Rallison syndrome	MONDO:0009192
spinocerebellar ataxia type 1 with axonal neuropathy	MONDO:0011801
Costeff syndrome	MONDO:0009787
atrial heart septal defect 3	MONDO:0013567
atrial heart septal defect 5	MONDO:0013011
atrial heart septal defect 9	MONDO:0013770
Charcot-Marie-Tooth disease X-linked recessive 5	MONDO:0010699
Cowchock syndrome	MONDO:0010689
Brugada syndrome 2	MONDO:0012728
hypertrophic cardiomyopathy 1	MONDO:0008647
hypertrophic cardiomyopathy 6	MONDO:0010946
hypertrophic cardiomyopathy 8	MONDO:0012111
hypertrophic cardiomyopathy 10	MONDO:0012112
hypertrophic cardiomyopathy 11	MONDO:0012799
hypertrophic cardiomyopathy 14	MONDO:0013197
dilated cardiomyopathy 1AA	MONDO:0012808
dilated cardiomyopathy 1GG	MONDO:0013339
dilated cardiomyopathy 1II	MONDO:0014073
dilated cardiomyopathy 1EE	MONDO:0013198
dilated cardiomyopathy 1S	MONDO:0013262
dilated cardiomyopathy 1R	MONDO:0013261
long QT syndrome 14	MONDO:0014548
long QT syndrome 15	MONDO:0014550
Warburg micro syndrome 4	MONDO:0014296
infantile neuronal ceroid lipofuscinosis	MONDO:0009744
Batten's disease	MONDO:0008767
neurodegeneration with brain iron accumulation 5	MONDO:0010476
neurodegeneration with brain iron accumulation 6	MONDO:0014290
Berardinelli-Seip congenital lipodystrophy type 2, Silver spastic paraplegia syndrome, distal hereditary motor neuropathy type V	MONDO:0010043
xeroderma pigementosum, variant type	MONDO:0010214
autosomal recessive distal spinal muscular atrophy 1	MONDO:0011436
autosomal recessive distal spinal muscular atrophy 2	MONDO:0011585
Nephronophthisis-like nephropathy 1	MONDO:0013163
Berardinelli-Seip congenital lipodystrophy type 2, Silver spastic paraplegia syndrome, distal hereditary motor neuropathy type V	MONDO:0010020
mitochondrial complex III deficiency	MONDO:0015448
ATPAF2 deficiency	MONDO:0014471
NARP	MONDO:0014471
autosomal recessive spinocerebellar ataxia 21	MONDO:0014744
autosomal dominant sensory ataxia 1	MONDO:0012166
cholesterinosis	MONDO:0000987
Lowe syndrome	MONDO:0010645
oculocerebrorenal syndrome	MONDO:0010645
leukoencephalopathy	MONDO:0019046
leukodystrophy	MONDO:0019046
metachromatic leukodystrophy	MONDO:0018868
adult Refsum disease	MONDO:0009958
retinitis pigmentosa	MONDO:0019200
mental retardation	MONDO:0001071
Charcot-Marie-Tooth disease	MONDO:0015626
microphthalmia	MONDO:0021129
Alzheimer's disease	MONDO:0100087
primary open-angle glaucoma	MONDO:0007665
methemoglobinemia	MONDO:0001117
microcephaly	MONDO:0001149
Alport syndrome	MONDO:0018965
heart disease	MONDO:0005267
familial dysautonomia	MONDO:0009131
phosphofructokinase deficiency	MONDO:0009295
Cornelia de Lange syndrome	MONDO:0016033
Graves' disease	MONDO:0005364
progressive external ophthalmoplegia	MONDO:0005181
ataxia-telangiectasia	MONDO:0008840
Friedreich's ataxia	MONDO:0009245
Maroteaux-Lamy syndrome	MONDO:0009661
Morquio syndrome type A	MONDO:0018938
Sjogren's syndrome	MONDO:0010030
Werdnig-Hoffmann disease	MONDO:0009669
porphyria	MONDO:0019142
Diamond-Blackfan anemia	MONDO:0015253
tumor suppressor syndrome, tuberous sclereosis	MONDO:0001734
tumor suppressor syndrome	MONDO:0001734
cholestasis	MONDO:0001751
Fanconi anemia	MONDO:0019391
familial hypercholesterolemia	MONDO:0005439
gyrate atrophy of choroid and retina	MONDO:0001892
hypophosphatasia	MONDO:0018570
renal tubular acidosis	MONDO:0001909
Parkinson's disease	MONDO:0005180
Alpers-Huttenlocher syndrome	MONDO:0008758
Wolman disease	MONDO:0019148
Fabry disease	MONDO:0010526
cholesteryl ester storage disease	MONDO:0019149
Niemann-Pick disease	MONDO:0001982
Johanson-Blizzard syndrome	MONDO:0009479
galactokinase deficiency with cataracts	MONDO:0009255
beta-ketothiolase deficiency	MONDO:0008760
arginosuccinicaciduria	MONDO:0008815
argininosuccinic aciduria	MONDO:0008815
cartilage-hair hypoplasia	MONDO:0009595
breast cancer	MONDO:0007254
cancer	MONDO:0004992
epilepsy	MONDO:0005027
Lesch-Nyhan syndrome	MONDO:0010298
Kelley-Seegmiller syndrome	MONDO:0010298
Williams-Beuren syndrome	MONDO:0008678
motor neurone disease	MONDO:0020128
hereditary spastic paraplegia	MONDO:0019064
encephalopathy	MONDO:0016021
rhizomelic chondrodysplasia punctata (RCDP)	MONDO:0015776
acatalasemia	MONDO:0013571
Bloom's syndrome	MONDO:0008876
dyskeratosis congenita	MONDO:0015780
Rothmund-Thomsom syndrome	MONDO:0010002
glycogen storage disorders	MONDO:0002412
glycogen storage cardiomyopathy	MONDO:0002412
Pompe disease	MONDO:0009290
phosphoglycerate mutase deficiency	MONDO:0009294
chronic non-spherocytic hemolytic anemia	MONDO:0006506
6-phosphogluconate dehydrogenase deficiency	MONDO:0005775
G6PD deficiency	MONDO:0005775
thyroid adenoma	MONDO:0002454
Treacher Collins syndrome	MONDO:0002457
Chediak-Higashi syndrome	MONDO:0008963
photosensitive trichothiodystrophy	MONDO:0002470
Cockayne syndrome	MONDO:0016006
hyperoxaluria	MONDO:0002474
carbohydrate metabolism disorders	MONDO:0019214
Li-Fraumeni syndrome	MONDO:0018875
fatty acid metabolism disorders	MONDO:0002525
nemaline myopathy	MONDO:0018958
lysosomal storage disorders	MONDO:0002561
lysosomal storage disorder	MONDO:0002561
amyotrophic lateral sclerosis	MONDO:0004976
lactic acidosis	MONDO:0000440
pyruvate carboxylase deficiency	MONDO:0009949
Leigh syndrome	MONDO:0018859
Salla disease	MONDO:0010028
skin disorders	MONDO:0005093
cytochrome c oxidase deficiency	MONDO:0009068
Coffin-Lowry syndrome	MONDO:0010561
Wolff-Parkinson-White syndrome	MONDO:0008685
renal cell cancer	MONDO:0005086
striatonigral degeneration	MONDO:0003122
glycosylation disorders	MONDO:0015286
congenital disorders of glycosylation	MONDO:0015286
human infertility	MONDO:0005047
schizophrenia	MONDO:0005090
dystonia	MONDO:0003441
optic atrophy	MONDO:0003608
hemolytic anemia	MONDO:0003664
immunodeficiency	MONDO:0003778
SCID	MONDO:0015974
Cowden syndrome	MONDO:0016063
purine-pyrimidine metabolism disorders	MONDO:0019254
hepatoma	MONDO:0007256
mitochondrial myopathy	MONDO:0009637
mitochondrial disorders	MONDO:0004069
respiratory chain defects	MONDO:0004069
succinate-CoA ligase deficiency	MONDO:0004069
arthritis	MONDO:0008383
axonal neuropathy	MONDO:0004183
Nijmegen breakage syndrome	MONDO:0009623
vascular disorder glomuvenous malformation	MONDO:0004424
lipodystrophy	MONDO:0006573
multiple carboxylase deficiency	MONDO:0015454
holocarboxylase synthetase deficiency	MONDO:0009666
neurological disorders	MONDO:0005071
progressive myoclonus epilepsy	MONDO:0020074
Wilson disease	MONDO:0010200
Zellweger syndrome	MONDO:0019609
peroxisomal defects	MONDO:0019053
peroxisomal metabolism disorders	MONDO:0019053
acute myeloid leukemia	MONDO:0018874
Wiskott-Aldrich syndrome	MONDO:0010518
Barrett's oesophagus	MONDO:0013662
amino acid metabolism disorders	MONDO:0004736
colorectal cancer	MONDO:0005575
homocystinuria	MONDO:0004737
cystinuria	MONDO:0009067
urea cycle disorders	MONDO:0004739
hyperglycinemia	MONDO:0011612
glycine encephalopathy	MONDO:0011612
maple syrup urine disease type II	MONDO:0009563
maple syrup urine disease	MONDO:0009563
ornithine transcarbamylase deficiency	MONDO:0010703
citrullinaemia type I	MONDO:0015991
hyperlysinemia	MONDO:0009388
argininemia	MONDO:0008814
arginase deficiency	MONDO:0008814
carbamoyl-phosphate synthetase I deficiency	MONDO:0009376
diabetes	MONDO:0005015
galactosemia	MONDO:0018116
muscular dystrophy	MONDO:0020121