path: root/data/disease_name_with_id.csv

disease_name,disease_id
serum amyloid A amyloidosis,DOID:0080936
erythroleukemia,DOID:0080916
spondylometaphyseal dysplasia Sedaghatian type,DOID:0112298
cerebrooculofacioskeletal syndrome 2,DOID:0080912
bilateral frontoparietal polymicrogyria,DOID:0080922
cerebrooculofacioskeletal syndrome 3,DOID:0080913
sarcosinemia,DOID:0112307
cerebrooculofacioskeletal syndrome 1,DOID:0080911
polymicrogyria,DOID:0080918
Cockayne syndrome A,DOID:0080907
Mahvash Disease,DOID:0112306
spermatogenic failure 53,DOID:0112279
primary ovarian insufficiency 19,DOID:0112278
cerebrooculofacioskeletal syndrome 4,DOID:0080914
bilateral perisylvian polymicrogyria,DOID:0080924
Cockayne syndrome B,DOID:0080908
spondyloepiphyseal dysplasia Stanescu type,DOID:0112281
"spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis",DOID:0112290
spondylometaphyseal dysplasia with corneal dystrophy,DOID:0112303
primary localized cutaneous amyloidosis 1,DOID:0080930
developmental and epileptic encephalopathy 93,DOID:0112275
neurodevelopmental disorder with involuntary movements,DOID:0112276
spondyloepiphyseal dysplasia,DOID:0112280
spondyloepiphyseal dysplasia Kondo-Fu type,DOID:0112283
bilateral parasagittal parieto-occipital polymicrogyria,DOID:0080923
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type,DOID:0112304
wild-type amyloidosis,DOID:0080937
axial spondylometaphyseal dysplasia,DOID:0112299
cytochrome P450 oxidoreductase deficiency,DOID:0080925
spondylometaphyseal dysplasia with cone-rod dystrophy,DOID:0112300
immunodeficiency 79,DOID:0112277
dialysis-related amyloidosis,DOID:0080928
spondyloepiphyseal dysplasia tarda,DOID:0112284
spondylometaphyseal dysplasia corner fracture type,DOID:0112297
immunoglobulin light chain amyloidosis,DOID:0080933
7q11.23 duplication syndrome,DOID:0080926
primary localized cutaneous amyloidosis 3,DOID:0080932
spondyloepiphyseal dysplasia Kimberley type,DOID:0112282
primary localized cutaneous amyloidosis 2,DOID:0080931
visual impairment and progressive phthisis bulbi,DOID:0070356
cerebellar ataxia type 42,DOID:0111742
cerebellar ataxia type 47,DOID:0111743
cerebellar ataxia type 41,DOID:0111744
cerebellar ataxia type 43,DOID:0111745
cerebellar ataxia type 48,DOID:0111746
mitochondrial complex V (ATP synthase) deficiency nuclear type 6,DOID:0111749
cataract 47,DOID:0070353
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures,DOID:0070352
nephrotic syndrome type 20,DOID:0070357
Y-linked deafness 2,DOID:0111758
cataract 48,DOID:0070354
X-linked panhypopituitarism,DOID:0111779
"46,XY sex reversal 1",DOID:0111778
"46,XY sex reversal 9",DOID:0111770
"46,XY sex reversal 8",DOID:0111773
"46,XY sex reversal 3",DOID:0111772
"46,XY sex reversal 7",DOID:0111774
"46,XY sex reversal 2",DOID:0111777
"46,XY sex reversal 5",DOID:0111776
otopalatodigital syndrome spectrum disorder,DOID:0111782
otopalatodigital syndrome type 1,DOID:0111783
urolithiasis,DOID:0080653
calcium oxalate nephrolithiasis,DOID:0080652
multisystem proteinopathy,DOID:070355
Melnick-Needles syndrome,DOID:0111788
Frank-Ter Haar syndrome,DOID:0111789
otopalatodigital syndrome type 2,DOID:0111784
frontometaphyseal dysplasia,DOID:0111785
frontometaphyseal dysplasia 1,DOID:0111786
frontometaphyseal dysplasia 2,DOID:0111787
TARP syndrome,DOID:0111780
Waisman syndrome,DOID:0111781
X-linked properdin deficiency,DOID:0111768
"46,XY sex reversal 6",DOID:0111769
X-linked VACTERL association,DOID:0111766
X-linked thrombocytopenia with beta-thalassemia,DOID:0111767
"46,XX sex reversal 4",DOID:0111764
X-linked cardiac valvular dysplasia,DOID:0111765
"46,XX sex reversal",DOID:0111760
X-linked deafness 6,DOID:0111740
X-linked deafness 5,DOID:0111741
familial episodic pain syndrome,DOID:0111728
familial episodic pain syndrome 1,DOID:0111729
encephalopathy due to defective mitochondrial and peroxisomal fission 1,DOID:0070347
amelogenesis imperfecta type 3C,DOID:0111722
Jacobsen Syndrome,DOID:0111723
amelogenesis imperfecta type 3,DOID:0111721
geleophysic dysplasia 2,DOID:0111726
geleophysic dysplasia 3,DOID:0111727
geleophysic dysplasia,DOID:0111724
geleophysic dysplasia 1,DOID:0111725
spinal muscular atrophy with lower extremity predominant 1,DOID:0070351
X-linked deafness 2,DOID:0111737
Middle East respiratory syndrome,DOID:0080642
aminoglycoside-induced deafness,DOID:0111734
Eiken syndrome,DOID:0111732
spinal muscular atrophy with lower extremity predominant 2B,DOID:0070350
"cerebellar hyplasia/atrophy, epilepsy, and global developmental delay",DOID:0070339
cryptophthalmia,DOID:0111716
familial episodic pain syndrome 3,DOID:0111731
cerebellar hypoplasia,DOID:0070338
pancreatic hypoplasia-diabetes-congenital heart disease syndrome,DOID:0111733
"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",DOID:0070346
B-cell acute lymphoblastic leukemia,DOID:0080638
vertebral anomalies and variable endocrine and T-cell dysfunction,DOID:0070345
adult-onset type II citrullinemia,DOID:0070342
classic citrullinemia,DOID:0070340
neonatal-onset type II citrullinemia,DOID:0070341
isolated cryptophthalmia,DOID:0111717
B-lymphoblastic leukemia/lymphoma,DOID:0080630
X-linked deafness 1,DOID:0111739
X-linked deafness 7,DOID:0111738
spinal muscular atrophy with lower extremity predominant,DOID:0070348
spinal muscular atrophy with lower extremity predominant 2A,DOID:0070349
X-linked deafness 4,DOID:0111735
familial episodic pain syndrome 2,DOID:0111730
gallbladder cancer,DOID:3121
Cytomegalovirus retinitis,DOID:0080160
lupus nephritis,DOID:0080162
myeloid and lymphoid neoplasms associated with PDGFRA rearrangement,DOID:0080165
"myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1",DOID:0080164
megacolon,DOID:11372
Coffin-Siris syndrome 3,DOID:0070045
Coffin-Siris syndrome 2,DOID:0070044
Schuurs-Hoeijmakers Syndrome,DOID:0070047
Coffin-Siris syndrome 4,DOID:0070046
autosomal dominant intellectual developmental disorder 11,DOID:0070041
autosomal dominant intellectual developmental disorder 10,DOID:0070040
autosomal dominant intellectual developmental disorder 13,DOID:0070043
Coffin-Siris syndrome 1,DOID:0070042
autosomal dominant intellectual developmental disorder 19,DOID:0070049
GAND syndrome,DOID:0070048
neuronal ceroid lipofuscinosis 11,DOID:0110732
neuronal ceroid lipofuscinosis 6B,DOID:0110730
neurodegeneration with brain iron accumulation 2b,DOID:0110736
neurodegeneration with brain iron accumulation 3,DOID:0110737
neurodegeneration with brain iron accumulation,DOID:0110734
vascular dementia,DOID:8725
neurodegeneration with brain iron accumulation 4,DOID:0110738
buphthalmos,DOID:11211
Parkinson's disease,DOID:14330
sensory system cancer,DOID:0060116
nervous system benign neoplasm,DOID:0060115
psoriasis,DOID:8893
thoracic disease,DOID:0060118
pharynx cancer,DOID:0060119
prostate disease,DOID:47
malignant hyperthermia,DOID:8545
"Hodgkin's lymphoma, lymphocytic-histiocytic predominance",DOID:8543
Sezary's disease,DOID:8541
optic nerve neoplasm,DOID:3419
male reproductive system disease,DOID:48
monocular esotropia,DOID:10293
aromatase excess syndrome,DOID:0090122
aromatic L-amino acid decarboxylase deficiency,DOID:0090123
neurogenic-type arthrogryposis multiplex congenita-2,DOID:0090124
brain small vessel disease 1,DOID:0090125
branched-chain keto acid dehydrogenase kinase deficiency,DOID:0090126
camptodactyly-arthropathy-coxa vara-pericarditis syndrome,DOID:0090127
Carvajal syndrome,DOID:0090128
carnitine palmitoyltransferase I deficiency,DOID:0090129
aortic valve stenosis,DOID:1712
atrial heart septal defect,DOID:1882
esophagitis,DOID:11963
primary systemic mycosis,DOID:0050292
hepatitis C,DOID:1883
megaesophagus,DOID:13186
gout,DOID:13189
serine deficiency,DOID:0050721
brain edema,DOID:4724
bile duct carcinoma,DOID:4897
juvenile myoclonic epilepsy,DOID:4890
fragile X-associated tremor/ataxia syndrome,DOID:0050879
PSPH deficiency,DOID:0050724
follicular lymphoma,DOID:0050873
fibroma,DOID:0050871
Caroli disease,DOID:0050876
schizophrenia,DOID:5419
schizoaffective disorder,DOID:5418
glycogen metabolism disorder,DOID:0050728
neutral lipid storage disease,
pancreatic cystadenoma,DOID:3918
agnosia,DOID:4090
neovascular inflammatory vitreoretinopathy,DOID:9719
familial hyperinsulinemic hypoglycemia 2,DOID:0070218
nephrotic syndrome type 2,DOID:0080379
protein-losing enteropathy,DOID:10611
congenital diaphragmatic hernia,DOID:3827
hereditary lymphedema IA,DOID:0070210
hereditary lymphedema I,DOID:0070212
familial hyperinsulinemic hypoglycemia 7,DOID:0070214
familial hyperinsulinemic hypoglycemia 4,DOID:0070215
familial hyperinsulinemic hypoglycemia 3,DOID:0070216
familial hyperinsulinemic hypoglycemia 6,DOID:0070217
medulloblastoma,DOID:0050902
Carey-Fineman-Ziter syndrome,DOID:0080194
Marinesco-Sjogren syndrome,DOID:0080195
"mandibulofacial dysostosis, Guion-Almeida type",DOID:0080196
congenital muscular dystrophy with cataracts and intellectual disability,DOID:0080197
PTEN hamartoma tumor syndrome,DOID:0080191
selective IgA deficiency disease,DOID:11701
colorectal carcinoma,DOID:0080199
hyperpituitarism,DOID:2444
granulosa cell tumor,DOID:2999
testicular cancer,DOID:2998
acromegaly,DOID:2449
osteoarthritis,DOID:8398
portal hypertension,DOID:10762
hypertension,DOID:10763
ovarian disease,DOID:1100
HELLP syndrome,DOID:13133
myoepithelioma,DOID:2661
borna disease,DOID:5154
autosomal dominant nonsyndromic deafness 7,DOID:0110591
maturity-onset diabetes of the young type 10,DOID:0111108
maturity-onset diabetes of the young type 11,DOID:0111109
optic disk drusen,DOID:13561
maturity-onset diabetes of the young type 3,DOID:0111102
maturity-onset diabetes of the young type 4,DOID:0111103
maturity-onset diabetes of the young type 2,DOID:0111100
maturity-onset diabetes of the young type 5,DOID:0111101
maturity-onset diabetes of the young type 7,DOID:0111106
maturity-onset diabetes of the young type 9,DOID:0111107
maturity-onset diabetes of the young type 6,DOID:0111104
maturity-onset diabetes of the young type 8,DOID:0111105
autosomal recessive nonsyndromic deafness 48,DOID:0110505
autosomal recessive nonsyndromic deafness 49,DOID:0110506
autosomal recessive nonsyndromic deafness 44,DOID:0110501
autosomal recessive nonsyndromic deafness 42,DOID:0110500
autosomal recessive nonsyndromic deafness 53,DOID:0110509
congenital generalized lipodystrophy type 3,DOID:0111137
blood protein disease,DOID:620
complement deficiency,DOID:626
severe combined immunodeficiency,DOID:627
combined T cell and B cell immunodeficiency,DOID:628
"T-cell immunodeficiency, congenital alopecia, and nail dystrophy",DOID:0060769
neurodegeneration with brain iron accumulation 5,DOID:0110739
focal segmental glomerulosclerosis 8,DOID:0111133
focal segmental glomerulosclerosis 7,DOID:0111132
focal segmental glomerulosclerosis 6,DOID:0111131
focal segmental glomerulosclerosis 5,DOID:0111130
Smith-Magenis syndrome,DOID:0060768
acute leukemia,DOID:12603
Noonan syndrome with multiple lentigines,DOID:14291
diabetic macular edema,DOID:9191
primary ciliary dyskinesia 21,DOID:0110596
spastic quadriplegic cerebral palsy,DOID:10970
membranous glomerulonephritis,DOID:10976
thrombocytopenia,DOID:1588
subvalvular aortic stenosis,DOID:5805
hydrophthalmos,DOID:11212
rheumatic fever,DOID:1586
avoidant personality disorder,DOID:1509
candidiasis,DOID:1508
steroid-induced glaucoma,DOID:9946
lymph node disease,DOID:9942
pollen allergy,DOID:0060497
respiratory allergy,DOID:0060496
shellfish allergy,DOID:0060495
SPOAN syndrome,DOID:0060491
Schimke immuno-osseous dysplasia,DOID:0060490
amelogenesis imperfecta type 3B,DOID:0080243
Hermansky-Pudlak syndrome 3,DOID:0060541
primary ciliary dyskinesia 22,DOID:0110597
Hermansky-Pudlak syndrome 2,DOID:0060540
Hermansky-Pudlak syndrome 5,DOID:0060543
Hermansky-Pudlak syndrome 4,DOID:0060542
Askin's tumor,DOID:0050608
acrodermatitis enteropathica,DOID:0050605
acrocapitofemoral dysplasia,DOID:0050604
acrokeratosis verruciformis,DOID:0050606
ADULT syndrome,DOID:0050601
ABCD syndrome,DOID:0050600
acheiropody,DOID:0050603
triple-A syndrome,DOID:0050602
Hermansky-Pudlak syndrome 9,DOID:0060547
histiocytic and dendritic cell cancer,DOID:5621
keratoconjunctivitis,DOID:9368
periodontitis,DOID:824
myocarditis,DOID:820
hair follicle neoplasm,DOID:5375
Costello syndrome,DOID:0050469
aspartylglucosaminuria,DOID:0050461
Wolf-Hirschhorn syndrome,DOID:0050460
campomelic dysplasia,DOID:0050463
Antley-Bixler syndrome with disordered steroidogenesis,DOID:0050462
Muir-Torre syndrome,DOID:0050465
chronic fatigue syndrome,DOID:8544
erythrokeratodermia variabilis,DOID:0050467
Loeys-Dietz syndrome,DOID:0050466
somatostatinoma,DOID:4430
breast carcinoma,DOID:3459
breast adenocarcinoma,DOID:3458
skin carcinoma,DOID:3451
cutaneous Paget's disease,DOID:3450
brain infarction,DOID:3454
invasive lobular carcinoma,DOID:3457
hyperthyroxinemia,DOID:2855
Huntington's disease,DOID:12858
choreatic disease,DOID:12859
pulmonary edema,DOID:11396
adult respiratory distress syndrome,DOID:11394
type 1 diabetes mellitus 22,DOID:0110759
scurvy,DOID:13724
X-linked dyskeratosis congenita,DOID:0070025
autosomal recessive dyskeratosis congenita 6,DOID:0070024
type 1 diabetes mellitus 12,DOID:0110751
APP-related cerebral amyloid angiopathy,DOID:0070028
type 1 diabetes mellitus 20,DOID:0110757
Hodgkin's lymphoma,DOID:8567
gonadal disease,DOID:2277
pharyngitis,DOID:2275
distal 10q deletion syndrome,DOID:0060390
chromosome 15q13.3 microdeletion syndrome,DOID:0060394
chromosome 15q24 deletion syndrome,DOID:0060395
retinal telangiectasia,DOID:7736
uterine carcinosarcoma,DOID:6171
pantothenate kinase-associated neurodegeneration,DOID:3981
Hermansky-Pudlak syndrome 1,DOID:0060539
hepatoid adenocarcinoma,DOID:0060534
Warsaw breakage syndrome,DOID:0060535
mitochondrial complex I deficiency,DOID:0060536
mitochondrial complex II deficiency,DOID:0060537
laryngostenosis,DOID:11527
persistent Mullerian duct syndrome,DOID:0050791
piebaldism,DOID:3263
autosomal dominant hypocalcemia 2,DOID:0090108
autosomal dominant hypocalcemia,DOID:0090109
BH4-deficient hyperphenylalaninemia A,DOID:0090106
autosomal dominant hypocalcemia 1,DOID:0090107
Huntington's disease-like 2,DOID:0090104
autosomal recessive hypercholesterolemia,DOID:0090105
autosomal dominant macrothrombocytopenia TUBB1-related,DOID:0090102
Huntington's disease-like 1,DOID:0090103
lethal congenital glycogen storage disease of heart,DOID:0090101
oral submucous fibrosis,DOID:5773
peripheral nervous system neoplasm,DOID:1192
cherubism,DOID:1856
anterior horn cell disease,DOID:4873
mongolian spot,DOID:4702
bronchiolitis obliterans,DOID:2799
centronuclear myopathy,DOID:14717
biotin deficiency,DOID:0050810
congenital adrenal hyperplasia,DOID:0050811
"spondyloepimetaphyseal dysplasia, Pakistani type",DOID:0050812
temtamy preaxial brachydactyly syndrome,DOID:0050814
urofacial syndrome,DOID:0050816
transcobalamin II deficiency,DOID:0050818
Norum disease,DOID:1391
rectum cancer,DOID:1993
rectum adenocarcinoma,DOID:1996
pseudopapilledema,DOID:1392
macroglobulinemia,DOID:9080
irritable bowel syndrome,DOID:9778
bowel dysfunction,DOID:9779
developmental and epileptic encephalopathy 44,DOID:0080424
developmental and epileptic encephalopathy 47,DOID:0080425
Phelan-McDermid syndrome,DOID:0080354
developmental and epileptic encephalopathy 40,DOID:0080427
developmental and epileptic encephalopathy 62,DOID:0080420
developmental and epileptic encephalopathy 11,DOID:0080421
Dravet syndrome,DOID:0080422
benign recurrent intrahepatic cholestasis 1,DOID:0070231
developmental and epileptic encephalopathy 45,DOID:0080428
developmental and epileptic encephalopathy 24,DOID:0080429
primary coenzyme Q10 deficiency 1,DOID:0070238
primary coenzyme Q10 deficiency 2,DOID:0070239
blood group incompatibility,DOID:4176
retinal vascular disease,DOID:2462
psychotic disorder,DOID:2468
transient bullous dermolysis of the newborn,DOID:0111345
epidermolysis bullosa simplex with mottled pigmentation,DOID:0111346
epidermolysis bullosa with congenital localized absence of skin and deformity of nails,DOID:0111347
dominant optic atrophy plus syndrome,DOID:0111340
primary failure of tooth eruption,DOID:0111341
dermatopathia pigmentosa reticularis,DOID:0111342
lateral meningocele syndrome,DOID:0111343
gestational trophoblastic neoplasm,DOID:3590
epithelioid trophoblastic tumor,DOID:3593
choriocarcinoma,DOID:3594
hereditary desmoid disease,DOID:0111349
placental site trophoblastic tumor,DOID:3596
perivascular epithelioid cell tumor,DOID:2643
ovarian germ cell monodermal and highly specialized teratoma,DOID:2641
struma ovarii,DOID:2640
benign mesothelioma,DOID:2645
Borst-Jadassohn intraepidermal carcinoma,DOID:7039
camptodactyly-tall stature-scoliosis-hearing loss syndrome,DOID:0111160
familial adult myoclonic epilepsy 4,DOID:0111693
epidermal nevus,DOID:0111162
molybdenum cofactor deficiency type B,DOID:0111163
molybdenum cofactor deficiency type A,DOID:0111164
molybdenum cofactor deficiency,DOID:0111165
molybdenum cofactor deficiency type C,DOID:0111166
Dyggve-Melchior-Clausen disease,DOID:0111167
sepiapterin reductase deficiency,DOID:0111168
subcortical band heterotopia,DOID:0111169
proprotein convertase 1/3 deficiency,DOID:0111698
Van den Ende-Gupta syndrome,DOID:0111699
autosomal dominant nonsyndromic deafness 36,DOID:0110563
autosomal dominant nonsyndromic deafness 41,DOID:0110567
autosomal dominant nonsyndromic deafness 40,DOID:0110566
dermatophytosis,DOID:8913
autosomal dominant nonsyndromic deafness 44,DOID:0110569
amblyopia,DOID:10376
strabismic amblyopia,DOID:10375
ectropion,DOID:1570
plasma protein metabolism disease,DOID:2345
normal pressure hydrocephalus,DOID:1572
communicating hydrocephalus,DOID:1573
abdominal aortic aneurysm,DOID:7693
rheumatic disease,DOID:1575
limited scleroderma,DOID:1577
leukocyte adhesion deficiency,DOID:6612
hypertrophic cardiomyopathy 1,DOID:0110307
peptic esophagitis,DOID:13976
measles,DOID:8622
nephritis,DOID:10952
ichthyosis,DOID:1697
congenital hypoplastic anemia,DOID:1342
pure red-cell aplasia,DOID:1340
hypertrophic cardiomyopathy 2,DOID:0110308
lymphoproliferative syndrome 1,DOID:0060707
X-linked lymphoproliferative syndrome 2,DOID:0060706
X-linked lymphoproliferative syndrome 1,DOID:0060705
lymphoproliferative syndrome,DOID:0060704
Muenke Syndrome,DOID:0060703
familial hypocalciuric hypercalcemia 3,DOID:0060702
familial hypocalciuric hypercalcemia 2,DOID:0060701
familial hypocalciuric hypercalcemia 1,DOID:0060700
lymphoproliferative syndrome 2,DOID:0060708
Joubert syndrome 10,DOID:0110981
Joubert syndrome 1,DOID:0110980
Joubert syndrome 14,DOID:0110983
Joubert syndrome 13,DOID:0110982
Joubert syndrome 16,DOID:0110985
Joubert syndrome 15,DOID:0110984
Joubert syndrome 18,DOID:0110987
Joubert syndrome 17,DOID:0110986
Joubert syndrome 20,DOID:0110989
Joubert syndrome 2,DOID:0110988
toxoplasmosis,DOID:9965
carotenemia,DOID:9969
urethral disease,DOID:732
hereditary nonpolyposis colorectal cancer type 2,DOID:0070274
Bethlem myopathy,DOID:0050663
bestrophinopathy,DOID:0050662
vitelliform macular dystrophy,DOID:0050661
Beare-Stevenson cutis gyrata syndrome,DOID:0050660
Bietti crystalline corneoretinal dystrophy,DOID:0050664
penile disease,DOID:1529
choroid plexus carcinoma,DOID:5648
colon carcinoma,DOID:1520
enthesopathy,DOID:204
hereditary multiple exostoses,DOID:206
cocaine abuse,DOID:809
osteomalacia,DOID:10573
exanthem,DOID:0050486
multinodular goiter,DOID:0050489
cervical adenocarcinoma,DOID:3702
brachial plexus neuropathy,DOID:3690
Menkes disease,DOID:1838
Kawasaki disease,DOID:13378
alpha 1-antitrypsin deficiency,DOID:13372
mononeuritis multiplex,DOID:1835
diabetic ketoacidosis,DOID:1837
temporal arteritis,DOID:13375
Graves' disease,DOID:12361
malaria,DOID:12365
rhizomelic chondrodysplasia punctata,DOID:2580
laryngeal squamous cell carcinoma,DOID:2876
endometrial adenocarcinoma,DOID:2870
endometrial carcinoma,DOID:2871
"asthma, nasal polyps, and aspirin intolerance",DOID:0111579
Gillespie syndrome,DOID:0111578
dehydrated hereditary stomatocytosis 2,DOID:0111577
dehydrated hereditary stomatocytosis 1,DOID:0111576
dehydrated hereditary stomatocytosis,DOID:0111575
autosomal recessive woolly hair 3,DOID:0111574
autosomal dominant woolly hair,DOID:0111573
familial woolly hair syndrome,DOID:0111572
Weyers acrofacial dysostosis,DOID:0111571
snowflake vitreoretinal degeneration,DOID:0111570
Seckel syndrome 8,DOID:0070009
Seckel syndrome 10,DOID:0070008
premature ejaculation,DOID:13709
3-methylglutaconic aciduria type 8,DOID:0070000
blastoma,DOID:0070003
3-methylglutaconic aciduria type 9,DOID:0070002
Seckel syndrome 9,DOID:0070005
myeloid neoplasm,DOID:0070004
Seckel syndrome 1,DOID:0070007
Seckel syndrome 6,DOID:0070006
hereditary spastic paraplegia 26,DOID:0110777
hereditary spastic paraplegia 23,DOID:0110774
hereditary spastic paraplegia 2,DOID:0110773
hereditary spastic paraplegia 17,DOID:0110770
hereditary spastic paraplegia 18,DOID:0110771
acute megakaryocytic leukemia,DOID:8761
arteriosclerosis obliterans,DOID:5160
cervix disease,DOID:2253
osteochondrodysplasia,DOID:2256
cataract,DOID:83
osteochondritis dissecans,DOID:84
chronic kidney disease,DOID:784
placenta disease,DOID:780
end stage renal disease,DOID:783
childhood leukemia,DOID:7757
double outlet right ventricle,DOID:6406
mitral valve stenosis,DOID:1754
facial nerve disease,DOID:1756
fish allergy,DOID:0060513
peach allergy,DOID:0060510
bile duct adenocarcinoma,DOID:4896
kidney osteogenic sarcoma,DOID:5983
pemphigoid gestationis,DOID:14482
sporotrichosis,DOID:14484
uveitis,DOID:13141
hepatic coma,DOID:12550
hemolytic-uremic syndrome,DOID:12554
Duane retraction syndrome,DOID:12557
acute kidney tubular necrosis,DOID:12556
idiopathic juvenile osteoporosis,DOID:12559
chronic progressive external ophthalmoplegia,DOID:12558
pleomorphic xanthoastrocytoma,DOID:4852
choanal atresia,DOID:9574
large cell neuroendocrine carcinoma,DOID:0050872
Weaver syndrome,DOID:14731
hepatoblastoma,DOID:687
craniofrontonasal syndrome,DOID:14737
hereditary angioedema,DOID:14735
gastric adenocarcinoma,DOID:3717
acrodysostosis,DOID:14669
pulmonary venoocclusive disease,DOID:5453
retinal detachment,DOID:5327
pancreatic agenesis,DOID:0050877
secretory meningioma,DOID:4588
benign meningioma,DOID:4587
Charcot-Marie-Tooth disease X-linked dominant 1,DOID:0110209
orofacial cleft 10,DOID:0080403
orofacial cleft 8,DOID:0080401
orofacial cleft 11,DOID:0080404
orofacial cleft 15,DOID:0080408
amelogenesis imperfecta hypomaturation type 2A4,DOID:0110062
adrenal cortical hypofunction,DOID:10493
peritoneal mesothelioma,DOID:1788
prolymphocytic leukemia,DOID:1039
segmental dystonia,DOID:0050838
focal dystonia,DOID:0050836
multifocal dystonia,DOID:0050837
CHARGE syndrome,DOID:0050834
generalized dystonia,DOID:0050835
orotic aciduria,DOID:0050833
peripheral artery disease,DOID:0050830
familial encephalopathy with neuroserpin inclusion bodies,DOID:0050831
melanoma and neural system tumor syndrome,DOID:0111511
Erdheim-Chester disease,DOID:4329
Marshall syndrome,DOID:0111510
Ebola hemorrhagic fever,DOID:4325
metachondromatosis,DOID:0111512
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2,DOID:0111515
metatropic dysplasia,DOID:0111514
hawkinsinuria,DOID:0111362
Heinz body anemia,DOID:0111363
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,DOID:0111360
hypotrichosis-lymphedema-telangiectasia syndrome,DOID:0111361
familial hepatic adenoma,DOID:0111366
childhood medulloblastoma,DOID:3869
Alzheimer's disease 9,DOID:0111364
benign familial hematuria,DOID:0111365
adult medulloblastoma,DOID:3864
hyperalphalipoproteinemia 1,DOID:0111369
medullomyoblastoma,DOID:3861
short-rib thoracic dysplasia 13 with or without polydactyly,DOID:0110093
short-rib thoracic dysplasia 6 with or without polydactyly,DOID:0110092
short-rib thoracic dysplasia 10 with or without polydactyly,DOID:0110091
short-rib thoracic dysplasia 7 with or without polydactyly,DOID:0110090
short-rib thoracic dysplasia 9 with or without polydactyly,DOID:0110097
short-rib thoracic dysplasia 14 with polydactyly,DOID:0110096
short-rib thoracic dysplasia 11 with or without polydactyly,DOID:0110095
short-rib thoracic dysplasia 8 with or without polydactyly,DOID:0110094
atopic dermatitis 2,DOID:0110098
isolated ectopia lentis,DOID:0111148
autosomal recessive isolated ectopia lentis 2,DOID:0111149
acquired von Willebrand syndrome,DOID:0111146
preterm premature rupture of the membranes,DOID:0111144
IGSF1 deficiency syndrome,DOID:0111140
delayed sleep phase syndrome,DOID:0111141
long QT syndrome 3,DOID:0110646
epithelioid type angiomyolipoma,DOID:3318
lymphangioleiomyomatosis,DOID:3319
bipolar disorder,DOID:3312
atopic dermatitis,DOID:3310
perivascular tumor,DOID:3316
lipoma,DOID:3315
Dubin-Johnson syndrome,DOID:12308
familial hyperinsulinemic hypoglycemia 1,DOID:0070219
primary autosomal recessive microcephaly 14,DOID:0070279
adult-onset Still's disease,DOID:14256
Down syndrome,DOID:14250
vitreoretinal dystrophy,DOID:14251
migraine,DOID:6364
acquired color blindness,DOID:13912
red color blindness,DOID:13910
achromatopsia,DOID:13911
autosomal dominant nonsyndromic deafness 1,DOID:0110541
cataract 39 multiple types,DOID:0110236
autosomal dominant nonsyndromic deafness 12,DOID:0110544
impulse control disorder,DOID:10937
borderline personality disorder,DOID:10930
obsessive-compulsive disorder,DOID:10933
obsessive-compulsive personality disorder,DOID:10932
gastroesophageal cancer,DOID:0080374
antisocial personality disorder,DOID:10939
trichorhinophalangeal syndrome type III,DOID:0080376
gastroschisis,DOID:11044
peroxisomal biogenesis disorder,DOID:0080377
X-linked cleft palate with or without ankyloglossia,DOID:0060613
NGLY1-deficiency,DOID:0060728
autosomal recessive congenital ichthyosis 11,DOID:0060720
ulnar-mammary syndrome,DOID:0060614
breast implant-associated anaplastic large cell lymphoma,DOID:0070333
monodermal teratoma,DOID:5207
inflammatory bowel disease 28,DOID:0110899
ovarian seromucinous carcinoma,DOID:6898
lung cancer,DOID:1324
sex cord-gonadal stromal tumor,DOID:192
reproductive organ cancer,DOID:193
Rh deficiency syndrome,DOID:0050641
hypochromic microcytic anemia,DOID:0050642
arterial calcification of infancy,DOID:0050644
distal arthrogryposis,DOID:0050646
atransferrinemia,DOID:0050649
atelosteogenesis,DOID:0050648
testis seminoma,DOID:5842
female reproductive system disease,DOID:229
ankylosis,DOID:227
transient cerebral ischemia,DOID:224
syndrome,DOID:225
bile duct disease,DOID:4138
pure hair and nail ectodermal dysplasia,DOID:0111655
rhabdoid cancer,DOID:3672
childhood kidney cancer,DOID:3675
kidney rhabdoid cancer,DOID:3674
trophoblastic neoplasm,DOID:4085
Ehlers-Danlos syndrome,DOID:13359
osteogenesis imperfecta,DOID:12347
Bloch-Sulzberger syndrome,DOID:12305
"myopathy, lactic acidosis, and sideroblastic anemia",DOID:0080099
myofibrillar myopathy 7,DOID:0080098
alpha-mannosidosis,DOID:3413
infant gynecomastia,DOID:11603
spheroid body myopathy,DOID:0080091
reducing body myopathy 1A,DOID:0080090
myofibrillar myopathy 2,DOID:0080093
myofibrillar myopathy 1,DOID:0080092
fungal meningitis,DOID:11608
myofibrillar myopathy 3,DOID:0080094
myofibrillar myopathy 6,DOID:0080097
myofibrillar myopathy 5,DOID:0080096
Alkuraya-Kucinskas syndrome,DOID:0111555
spondylometaphyseal dysplasia Kozlowski type,DOID:0111554
Charcot-Marie-Tooth disease type 2A2B,DOID:0111557
steatocystoma multiplex,DOID:0111556
neurogenic scapuloperoneal syndrome Kaeser type,DOID:0111551
scalp-ear-nipple syndrome,DOID:0111550
spondyloepiphyseal dysplasia Maroteaux type,DOID:0111553
scapuloperoneal spinal muscular atrophy,DOID:0111552
Charcot-Marie-Tooth disease type 2EE,DOID:0111559
Charcot-Marie-Tooth disease type 2DD,DOID:0111558
seborrheic dermatitis,DOID:8741
Sertoli-Leydig cell tumor,DOID:2997
congenital afibrinogenemia,DOID:2236
focal epilepsy,DOID:2234
germ cell cancer,DOID:2994
factor XII deficiency,DOID:2231
hypertrichosis,DOID:420
hair disease,DOID:421
congenital structural myopathy,DOID:422
myopathy,DOID:423
aortic atherosclerosis,DOID:10230
muscular atrophy,DOID:767
Brown's tendon sheath syndrome,DOID:10235
neuroblastoma,DOID:769
retinoblastoma,DOID:768
bronchitis,DOID:6132
agranulocytosis,DOID:12987
Ritscher-Schinzel syndrome 1,DOID:0060571
Ritscher-Schinzel syndrome 2,DOID:0060572
von Willebrand's disease 1,DOID:0060573
von Willebrand's disease 2,DOID:0060574
3MC syndrome 1,DOID:0060575
3MC syndrome 2,DOID:0060576
3MC syndrome 3,DOID:0060577
Noonan syndrome 1,DOID:0060578
phacogenic glaucoma,DOID:12571
urethral obstruction,DOID:12577
posterior uveitis,DOID:12574
myoepithelial carcinoma,DOID:4838
sebaceous adenocarcinoma,DOID:4839
Prader-Willi syndrome,DOID:11983
morbid obesity,DOID:11981
plasma cell leukemia,DOID:9513
adenosquamous carcinoma,DOID:4830
hypertrophic cardiomyopathy,DOID:11984
argininosuccinic aciduria,DOID:14755
vascular type Ehlers-Danlos syndrome,DOID:14756
isovaleric acidemia,DOID:14753
ovarian clear cell adenocarcinoma,DOID:5304
muscular dystrophy-dystroglycanopathy type B1,DOID:0050588
inflammatory bowel disease,DOID:0050589
trichotillomania,DOID:0050587
congenital generalized lipodystrophy,DOID:0050585
hereditary lymphedema,DOID:0050580
brachydactyly,DOID:0050581
high grade glioma,DOID:3070
giant cell glioblastoma,DOID:3074
ITM2B-related cerebral amyloid angiopathy 2,DOID:0070030
large cell carcinoma,DOID:4552
Chediak-Higashi syndrome,DOID:2935
superficial basal cell carcinoma,DOID:4300
bone giant cell tumor,DOID:4305
lung large cell carcinoma,DOID:4556
autosomal dominant intellectual developmental disorder 5,DOID:0070035
familial febrile seizures 11,DOID:0111308
eclampsia,DOID:13593
generalized epilepsy with febrile seizures plus 9,DOID:0111301
generalized epilepsy with febrile seizures plus 1,DOID:0111302
familial febrile seizures 4,DOID:0111305
developmental and epileptic encephalopathy 1,DOID:0080468
Lynch syndrome,DOID:3883
neuronal ceroid lipofuscinosis 8 northern epilepsy variant,DOID:0110724
developmental and epileptic encephalopathy 34,DOID:0080460
developmental and epileptic encephalopathy 26,DOID:0080461
developmental and epileptic encephalopathy 7,DOID:0080462
developmental and epileptic encephalopathy 33,DOID:0080463
developmental and epileptic encephalopathy 53,DOID:0080464
developmental and epileptic encephalopathy 30,DOID:0080465
developmental and epileptic encephalopathy 2,DOID:0080467
Machado-Joseph disease,DOID:1440
ossifying fibromyxoid tumor,DOID:2685
neuronal ceroid lipofuscinosis 2,DOID:0110726
autosomal dominant cerebellar ataxia,DOID:1441
congenital disorder of glycosylation type IIe,DOID:0070257
interstitial lung disease,DOID:3082
chronic obstructive pulmonary disease,DOID:3083
cystic lymphangioma,DOID:3081
gingival overgrowth,DOID:3086
gingivitis,DOID:3087
severe pre-eclampsia,DOID:13129
spinocerebellar ataxia 46,DOID:0080288
osteoporosis,DOID:11476
toxic shock syndrome,DOID:14115
developmental and epileptic encephalopathy 57,DOID:0080284
developmental and epileptic encephalopathy 58,DOID:0080285
spinocerebellar ataxia 44,DOID:0080286
spinocerebellar ataxia 45,DOID:0080287
gingival fibromatosis 5,DOID:0080280
schizophrenia 19,DOID:0080281
developmental and epileptic encephalopathy 56,DOID:0080282
developmental and epileptic encephalopathy 55,DOID:0080283
X-linked recessive hypophosphatemic rickets,DOID:0080353
polyhydramnios,DOID:8488
retinal artery occlusion,DOID:8483
rheumatic myocarditis,DOID:8481
orofacial cleft 5,DOID:0080399
age related macular degeneration 6,DOID:0110018
amenorrhea,DOID:13938
facial paralysis,DOID:13934
Leber congenital amaurosis 5,DOID:0110215
cleft soft palate,DOID:0110214
Leber congenital amaurosis 17,DOID:0110217
Leber congenital amaurosis 11,DOID:0110216
Charcot-Marie-Tooth disease X-linked recessive 5,DOID:0110210
Charcot-Marie-Tooth disease X-linked recessive 4,DOID:0110212
Brugada syndrome 2,DOID:0110219
Brugada syndrome 1,DOID:0110218
poliomyelitis,DOID:4953
follicular adenoma,DOID:6204
familial temporal lobe epilepsy 1,DOID:0060748
methylmalonic acidemia cblB type,DOID:0060743
methylmalonic acidemia cblA type,DOID:0060742
methylmalonic acidemia due to transcobalamin receptor defect,DOID:0060741
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,DOID:0060740
Duane-radial ray syndrome,DOID:0060747
basal laminar drusen,DOID:0060746
Doyne honeycomb retinal dystrophy,DOID:0060745
Pendred Syndrome,DOID:0060744
hypogonadotropic hypogonadism 10 with or without anosmia,DOID:0090089
hypogonadotropic hypogonadism 24 without anosmia,DOID:0090088
hypogonadotropic hypogonadism 14 with or without anosmia,DOID:0090087
hypogonadotropic hypogonadism 6 with or without anosmia,DOID:0090086
hypogonadotropic hypogonadism 9 with or without anosmia,DOID:0090085
hypogonadotropic hypogonadism 5 with or without anosmia,DOID:0090084
hypogonadotropic hypogonadism 2 with or without anosmia,DOID:0090083
hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090082
hypogonadotropic hypogonadism 22 with or without anosmia,DOID:0090081
hypogonadotropic hypogonadism 16 with or without anosmia,DOID:0090080
hepatic vascular disease,DOID:272
beta-ketothiolase deficiency,DOID:14723
dementia,DOID:1307
ventricular septal defect,DOID:1657
supratentorial cancer,DOID:1659
sick sinus syndrome,DOID:13884
disease by infectious agent,DOID:0050117
angioid streaks,DOID:13401
Leigh disease,DOID:3652
pyruvate carboxylase deficiency disease,DOID:3651
lactic acidosis,DOID:3650
sialuria,DOID:3659
impotence,DOID:1875
sexual dysfunction,DOID:1876
polycystic kidney disease 2,DOID:0110859
polycystic kidney disease 1,DOID:0110858
posterior polymorphous corneal dystrophy 3,DOID:0110857
posterior polymorphous corneal dystrophy 2,DOID:0110856
posterior polymorphous corneal dystrophy 1,DOID:0110855
rhizomelic chondrodysplasia punctata type 5,DOID:0110854
rhizomelic chondrodysplasia punctata type 3,DOID:0110853
rhizomelic chondrodysplasia punctata type 2,DOID:0110852
rhizomelic chondrodysplasia punctata type 1,DOID:0110851
xeroderma pigmentosum group B,DOID:0110850
chronic pulmonary heart disease,DOID:12326
skin cancer,DOID:4159
systolic heart failure,DOID:9651
dentinogenesis imperfecta,DOID:4154
rectal prolapse,DOID:9307
mechanical strabismus,DOID:9306
nephrosclerosis,DOID:11664
Patau syndrome,DOID:11665
laryngitis,DOID:3437
blue color blindness,DOID:11661
hypophosphatemic nephrolithiasis/osteoporosis 1,DOID:0080077
Neu-Laxova syndrome 1,DOID:0080076
Neu-Laxova syndrome 2,DOID:0080075
neural tube defect,DOID:0080074
spina bifida occulta,DOID:0080073
intestinal pseudo-obstruction,DOID:0080072
mucolipidosis III alpha/beta,DOID:0080071
mucolipidosis II alpha/beta,DOID:0080070
nonsyndromic congenital nail disorder 1,DOID:0080079
hypophosphatemic nephrolithiasis/osteoporosis 2,DOID:0080078
gnathodiaphyseal dysplasia,DOID:0111533
osteoglophonic dysplasia,DOID:0111532
bilateral optic nerve hypoplasia,DOID:0111531
linear nevus sebaceous syndrome,DOID:0111530
paroxysmal extreme pain disorder,DOID:0111537
Buschke-Ollendorff syndrome,DOID:0111536
progressive osseous heteroplasia,DOID:0111535
multicentric carpotarsal osteolysis syndrome,DOID:0111534
parastremmatic dwarfism,DOID:0111539
paramyotonia congenita of Von Eulenburg,DOID:0111538
anterior segment dysgenesis 8,DOID:0080613
anterior segment dysgenesis 7,DOID:0080612
anterior segment dysgenesis 6,DOID:0080611
anterior segment dysgenesis 5,DOID:0080610
nephroma,DOID:0080615
oculocutaneous albinism type VI,DOID:0080614
isolated elevated serum creatine phosphokinase levels,DOID:0111338
glycogen storage disease III,DOID:2748
glycogen storage disease Ia,DOID:2749
blood platelet disease,DOID:2218
Glanzmann's thrombasthenia,DOID:2219
factor VII deficiency,DOID:2215
factor V deficiency,DOID:2216
Bernard-Soulier syndrome,DOID:2217
glycogen storage disease V,DOID:2746
factor XIII deficiency,DOID:2211
hemorrhagic disease,DOID:2213
liver disease,DOID:409
mouth disease,DOID:403
congenital myasthenic syndrome 10,DOID:0110668
congenital myasthenic syndrome 14,DOID:0110669
congenital myasthenic syndrome 3C,DOID:0110664
congenital myasthenic syndrome 3B,DOID:0110665
congenital myasthenic syndrome 3A,DOID:0110666
congenital myasthenic syndrome 5,DOID:0110667
congenital myasthenic syndrome 12,DOID:0110660
congenital myasthenic syndrome 20,DOID:0110661
congenital myasthenic syndrome 1B,DOID:0110662
congenital myasthenic syndrome 1A,DOID:0110663
active peptic ulcer disease,DOID:749
adenomatoid tumor,DOID:746
congenital myopathy 1A,DOID:3529
cholelithiasis,DOID:10211
triple-receptor negative breast cancer,DOID:0060081
immune system cancer,DOID:0060083
cell type benign neoplasm,DOID:0060084
organ system benign neoplasm,DOID:0060085
female reproductive organ benign neoplasm,DOID:0060086
endocrine organ benign neoplasm,DOID:0060089
childhood fibrosarcoma,DOID:3520
Budd-Chiari syndrome,DOID:11512
nephrotic syndrome type 3,DOID:0080382
cerebral convexity meningioma,DOID:6114
retinal perforation,DOID:12514
retinal ischemia,DOID:12510
Lassa fever,DOID:9537
cerebrotendinous xanthomatosis,DOID:4810
benign familial neonatal epilepsy,DOID:14777
multiple myeloma,DOID:9538
intracranial berry aneurysm,DOID:0060228
Baraitser-Winter syndrome,DOID:0060229
lethal congenital contracture syndrome,DOID:0060558
lethal congenital contracture syndrome 1,DOID:0060559
Kufor-Rakeb syndrome,DOID:0060556
ataxia with oculomotor apraxia type 3,DOID:0060557
Adams-Oliver syndrome,DOID:0060227
Maffucci syndrome,DOID:0060221
ablepharon macrostomia syndrome,DOID:0060550
poikiloderma with neutropenia,DOID:0060551
monophasic synovial sarcoma,DOID:5495
biphasic synovial sarcoma,DOID:5492
myxoid liposarcoma,DOID:5363
focal epithelial hyperplasia,DOID:5362
Charcot-Marie-Tooth disease type 2A2A,DOID:0110155
eye degenerative disease,DOID:9799
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2,DOID:0111384
hereditary choroidal atrophy,DOID:9794
Charcot-Marie-Tooth disease type 2I,DOID:0110158
Charcot-Marie-Tooth disease type 2B,DOID:0110159
hereditary spastic paraplegia 55,DOID:0110807
autosomal dominant nonsyndromic deafness,DOID:0050564
autosomal recessive nonsyndromic deafness,DOID:0050565
X-linked nonsyndromic deafness,DOID:0050566
orofacial cleft,DOID:0050567
Walker-Warburg syndrome,DOID:0050560
Lennox-Gastaut syndrome,DOID:0050561
West syndrome,DOID:0050562
nonsyndromic deafness,DOID:0050563
spondylocostal dysostosis,DOID:0050568
Seckel syndrome,DOID:0050569
tonsillitis,DOID:10456
common cold,DOID:10459
cryoglobulinemia,DOID:2917
hypersensitivity reaction type IV disease,DOID:2916
immune system disease,DOID:2914
acute pancreatitis,DOID:2913
placental abruption,DOID:9667
apparent mineralocorticoid excess syndrome,DOID:4367
cervical cancer,DOID:4362
juvenile absence epilepsy 1,DOID:0111324
juvenile myoclonic epilepsy 10,DOID:0111325
idiopathic generalized epilepsy 8,DOID:0111322
idiopathic generalized epilepsy 9,DOID:0111323
pyridoxamine 5'-phosphate oxidase deficiency,DOID:0111329
developmental and epileptic encephalopathy 66,DOID:0080446
developmental and epileptic encephalopathy 43,DOID:0080447
developmental and epileptic encephalopathy 27,DOID:0080444
developmental and epileptic encephalopathy 13,DOID:0080445
developmental and epileptic encephalopathy 41,DOID:0080442
developmental and epileptic encephalopathy 21,DOID:0080443
developmental and epileptic encephalopathy 3,DOID:0080440
developmental and epileptic encephalopathy 49,DOID:0080441
developmental and epileptic encephalopathy 48,DOID:0080448
developmental and epileptic encephalopathy 16,DOID:0080449
cicatricial pemphigoid,DOID:11656
central nervous system germ cell tumor,DOID:4439
familial hemiplegic migraine 2,DOID:0111182
familial hemiplegic migraine 3,DOID:0111183
French Canadian Leigh disease,DOID:0111180
familial hemiplegic migraine 1,DOID:0111181
"myopathy, lactic acidosis, and sideroblastic anemia 2",DOID:0111186
distal muscular dystrophy with anterior tibial onset,
"myopathy, lactic acidosis, and sideroblastic anemia 1",DOID:0111185
myofibrillar myopathy 9,DOID:0111188
variegate porphyria,DOID:4346
seasonal affective disorder,DOID:0060167
von Hippel-Lindau disease,DOID:14175
central neurocytoma,DOID:14174
selective IgG deficiency disease,DOID:14176
Meckel syndrome 1,DOID:0070115
mesenchymal cell neoplasm,DOID:3350
thanatophoric dysplasia,DOID:13481
Proteus syndrome,DOID:13482
Niemann-Pick disease type C2,DOID:0070114
X-linked agammaglobulinemia,DOID:14179
amelogenesis imperfecta type 2A1,DOID:0110057
osteogenesis imperfecta type 8,DOID:0110336
amelogenesis imperfecta type 3A,DOID:0110055
amelogenesis imperfecta type 1A,DOID:0110054
amelogenesis imperfecta type 4,DOID:0110053
amelogenesis imperfecta type 1B,DOID:0110052
Alzheimer's disease 18,DOID:0110050
influenza,DOID:8469
osteogenesis imperfecta type 1,DOID:0110334
amelogenesis imperfecta type 1E,DOID:0110058
macular holes,DOID:7633
autoimmune thyroiditis,DOID:7188
pseudobulbar palsy,DOID:12680
Leber congenital amaurosis 7,DOID:0110333
hypophosphatasia,DOID:14213
dihydropyrimidine dehydrogenase deficiency,DOID:14218
renal tubular acidosis,DOID:14219
autosomal dominant nonsyndromic deafness 68,DOID:0110589
autosomal dominant nonsyndromic deafness 67,DOID:0110588
autosomal dominant nonsyndromic deafness 64,DOID:0110585
autosomal dominant nonsyndromic deafness 6,DOID:0110584
autosomal dominant nonsyndromic deafness 66,DOID:0110587
autosomal dominant nonsyndromic deafness 65,DOID:0110586
autosomal dominant nonsyndromic deafness 56,DOID:0110581
autosomal dominant limb-girdle muscular dystrophy,DOID:0110273
cataract 40,DOID:0110272
cataract 17 multiple types,DOID:0110270
autosomal recessive limb-girdle muscular dystrophy type 2C,DOID:0110277
autosomal recessive limb-girdle muscular dystrophy,DOID:0110274
autosomal recessive limb-girdle muscular dystrophy type 2E,DOID:0110279
autosomal recessive limb-girdle muscular dystrophy type 2D,DOID:0110278
X-linked juvenile retinoschisis 1,DOID:0060763
restrictive dermopathy,DOID:0060762
autosomal dominant Robinow syndrome 2,DOID:0060765
autosomal recessive Robinow syndrome,DOID:0060764
autosomal dominant Robinow syndrome 3,DOID:0060767
autosomal dominant Robinow syndrome 1,DOID:0060766
neuroma,DOID:2001
degeneration of macula and posterior pole,DOID:2007
preretinal fibrosis,DOID:2006
dilated cardiomyopathy 1W,DOID:0110446
pneumothorax,DOID:1673
cystitis,DOID:1679
monogenic disease,DOID:0050177
kidney cancer,DOID:263
hemangiopericytoma,DOID:264
pulmonary eosinophilia,DOID:9498
guanidinoacetate methyltransferase deficiency,DOID:0050799
cerebral creatine deficiency syndrome,DOID:0050798
peroxisomal acyl-CoA oxidase deficiency,DOID:0050797
cone dystrophy,DOID:0050795
multiple synostoses syndrome,DOID:0050794
short QT syndrome,DOID:0050793
multiple cutaneous and mucosal venous malformations,DOID:0050792
fibular hypoplasia and complex brachydactyly,DOID:0050790
McCune Albright syndrome,DOID:1858
intrahepatic cholestasis,DOID:1852
exocrine pancreatic insufficiency,DOID:13316
holoprosencephaly 3,DOID:0110875
holoprosencephaly 11,DOID:0110877
holoprosencephaly 7,DOID:0110876
congenital stationary night blindness 2A,DOID:0110871
congenital stationary night blindness 1A,DOID:0110870
holoprosencephaly 9,DOID:0110873
holoprosencephaly 2,DOID:0110872
holoprosencephaly 5,DOID:0110878
vitiligo,DOID:12306
benign familial infantile epilepsy,DOID:0060169
Rh isoimmunization,DOID:4175
inflammatory bowel disease 5,DOID:0110889
pulmonary emphysema,DOID:9675
oligodendroglioma,DOID:3181
autosomal recessive spinocerebellar ataxia 7,DOID:0080059
autosomal recessive spinocerebellar ataxia 14,DOID:0080058
achondrogenesis type IB,DOID:0080055
achondrogenesis type IA,DOID:0080054
autosomal recessive spinocerebellar ataxia 15,DOID:0080057
achondrogenesis type II,DOID:0080056
"acromesomelic dysplasia, Hunter-Thompson type",DOID:0080051
"acromesomelic dysplasia, Maroteaux type",DOID:0080050
Albright's hereditary osteodystrophy,DOID:0080053
"acromesomelic dysplasia, Grebe type",DOID:0080052
hypotrichosis 14,DOID:0080582
3-Methylcrotonyl-CoA carboxylase 2 deficiency,DOID:0080580
congenital myasthenic syndrome 22,DOID:0080587
Van Maldergem syndrome 2,DOID:0080586
Van Maldergem syndrome 1,DOID:0080585
autosomal dominant Wolfram syndrome,DOID:0080584
Klippel-Feil syndrome 1,DOID:0080589
agammaglobulinemia 5,DOID:0080588
bone sarcoma,DOID:0080639
Elsahy-Waters syndrome,DOID:0080631
developmental cardiac valvular defect,DOID:0080633
Fazio-Londe disease,DOID:0080632
optic disc anomalies with retinal and/or macular dystrophy,DOID:0080635
nanophthalmos,DOID:0080634
syndromic microphthalmia,DOID:0080636
chondrodysplasia punctata,DOID:2581
acatalasia,DOID:2582
agammaglobulinemia,DOID:2583
tic disorder,DOID:2769
muscle benign neoplasm,DOID:461
intramuscular hemangioma,DOID:468
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions  6,
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5,DOID:0111518
platelet-type bleeding disorder 17,DOID:0111049
platelet-type bleeding disorder 19,DOID:0111048
platelet-type bleeding disorder 10,DOID:0111046
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,
gray platelet syndrome,DOID:0111044
glycogen storage disease IXc,DOID:0111043
glycogen storage disease IXa,DOID:0111042
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2,DOID:0111517
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4,DOID:0111516
long QT syndrome 6,DOID:0110648
myeloid leukemia,DOID:8692
congenital muscular dystrophy due to LMNA mutation,DOID:0110640
mycosis fungoides,DOID:8691
long QT syndrome 5,DOID:0110647
long QT syndrome 1,DOID:0110644
long QT syndrome 2,DOID:0110645
left bundle branch hemiblock,DOID:10272
heart conduction disease,DOID:10273
normocytic anemia,DOID:720
cerebral malaria,DOID:14069
vascular skin disease,DOID:9540
hypospadias,DOID:10892
villonodular synovitis,DOID:9898
dendritic cell sarcoma,DOID:7849
endometrial stromal tumor,DOID:5166
cerebral degeneration,DOID:1443
Goodpasture syndrome,DOID:9808
oral squamous cell carcinoma,DOID:0050866
von Willebrand's disease,DOID:12531
tuberculous peritonitis,DOID:9801
Leber congenital amaurosis,DOID:14791
hypohidrotic ectodermal dysplasia,DOID:14793
amyotrophic lateral sclerosis type 18,DOID:0060209
amyotrophic lateral sclerosis type 11,DOID:0060202
amyotrophic lateral sclerosis type 12,DOID:0060203
amyotrophic lateral sclerosis type 9,DOID:0060200
amyotrophic lateral sclerosis type 10,DOID:0060201
amyotrophic lateral sclerosis type 15,DOID:0060206
amyotrophic lateral sclerosis type 16,DOID:0060207
frontotemporal dementia and/or amyotrophic lateral sclerosis-6,DOID:0060205
status asthmaticus,DOID:9362
amyotrophic lateral sclerosis type 6,DOID:0060198
amyotrophic lateral sclerosis type 4,DOID:0060196
amyotrophic lateral sclerosis type 5,DOID:0060197
Leber congenital amaurosis 8,DOID:0110079
visceral leishmaniasis,DOID:9146
Leber congenital amaurosis 1,DOID:0110078
Charcot-Marie-Tooth disease type X,DOID:0050542
Charcot-Marie-Tooth disease type 3,DOID:0050540
Charcot-Marie-Tooth disease type 4,DOID:0050541
congenital adrenal insufficiency,DOID:0050546
familial medullary thyroid carcinoma,DOID:0050547
hereditary sensory neuropathy,DOID:0050548
arrhythmogenic right ventricular dysplasia 8,DOID:0110076
isolated microphthalmia 8,DOID:0060841
endophthalmitis,DOID:4692
lung small cell carcinoma,DOID:5409
leprosy,DOID:1024
congenital hypothyroidism,DOID:0050328
synucleinopathy,DOID:0050890
adrenal cortical adenoma,DOID:0050891
amyloidosis,DOID:9120
acute myeloid leukemia,DOID:9119
premature menopause,DOID:10787
cutaneous leishmaniasis,DOID:9111
methemoglobinemia,DOID:10783
primary polycythemia,DOID:10780
Charcot-Marie-Tooth disease recessive intermediate A,DOID:0110201
adamantinous craniopharyngioma,DOID:3846
Farber lipogranulomatosis,DOID:0050464
focal nonepidermolytic palmoplantar keratoderma 1,DOID:0111709
astigmatism,DOID:11782
carbohydrate metabolic disorder,DOID:2978
cystic kidney disease,DOID:2975
primary hyperoxaluria,DOID:2977
renal artery obstruction,DOID:2972
Bothnian type palmoplantar keratoderma,DOID:0111707
long QT syndrome 4,DOID:0111701
obstructive hydrocephalus,DOID:14159
chondrosarcoma,DOID:3371
developmental and epileptic encephalopathy 9,DOID:0060848
osteoporosis-pseudoglioma syndrome,DOID:0060849
arrhythmogenic right ventricular dysplasia 5,DOID:0110074
arrhythmogenic right ventricular dysplasia 9,DOID:0110077
Leri-Weill dyschondrosteosis,DOID:0060847
arrhythmogenic right ventricular dysplasia 2,DOID:0110071
arrhythmogenic right ventricular dysplasia 1,DOID:0110070
hereditary neuropathy with liability to pressure palsies,DOID:0060843
intussusception,DOID:8446
intestinal volvulus,DOID:8445
paralytic ileus,DOID:8442
ileus,DOID:8440
pancreatic ductal carcinoma,DOID:3587
chromosome 2q37 deletion syndrome,DOID:0111704
oculoectodermal syndrome,DOID:0111705
oblique facial clefting 1,DOID:0111706
ankyrin-B-related cardiac arrhythmia,DOID:0111700
hereditary lymphedema ID,DOID:0070209
familial hypertryptophanemia,DOID:0111703
cataract 43,DOID:0110259
cataract 10 multiple types,DOID:0110258
cataract 15 multiple types,DOID:0110251
cataract 16 multiple types,DOID:0110250
cataract 14 multiple types,DOID:0110253
cataract 5 multiple types,DOID:0110255
cataract 21 multiple types,DOID:0110256
mitochondrial pyruvate carrier deficiency,DOID:0080363
familial partial lipodystrophy type 2,DOID:0070202
trimethylaminuria,DOID:0080361
chronic eosinophilic leukemia,DOID:0080367
familial partial lipodystrophy type 6,DOID:0070206
familial partial lipodystrophy type 4,DOID:0070205
familial partial lipodystrophy type 3,DOID:0070204
alpha-methylacyl-CoA racemase deficiency,DOID:0060602
placenta cancer,DOID:2021
isolated anhidrosis with normal sweat glands,DOID:0060603
glycogen storage disease IXb,DOID:0111041
ovarian cancer,DOID:2394
glycogen storage disease IXd,DOID:0111040
male breast cancer,DOID:1614
bone inflammation disease,DOID:3342
breast cancer,DOID:1612
alpha-2-plasmin inhibitor deficiency,DOID:0060601
malignant pleural mesothelioma,DOID:7474
aspiration pneumonia,DOID:0050152
sensory system disease,DOID:0050155
cryptogenic organizing pneumonia,DOID:0050157
idiopathic pulmonary fibrosis,DOID:0050156
lymphoid interstitial pneumonia,DOID:0050159
desquamative interstitial pneumonia,DOID:0050158
hairy cell leukemia,DOID:285
endometriosis,DOID:289
achromatopsia 4,DOID:0110010
age related macular degeneration 4,DOID:0110017
meningitis,DOID:9471
bacterial meningitis,DOID:9470
pulmonary embolism,DOID:9477
Sheehan syndrome,DOID:9476
postpartum depression,DOID:9478
Leber congenital amaurosis 2,DOID:0110016
Canavan disease,DOID:3613
retinitis,DOID:3612
thyroid gland carcinoma,DOID:3963
thyroid gland follicular carcinoma,DOID:3962
Merkel cell carcinoma,DOID:3965
Kallmann syndrome,DOID:3614
thyroid gland papillary carcinoma,DOID:3969
endometrial serous adenocarcinoma,DOID:5750
sebaceous gland neoplasm,DOID:5759
hereditary spastic paraplegia 62,DOID:0110813
hereditary spastic paraplegia 61,DOID:0110812
hereditary spastic paraplegia 6,DOID:0110811
hereditary spastic paraplegia 5A,DOID:0110810
hereditary spastic paraplegia 72,
hereditary spastic paraplegia 7,DOID:0110816
hereditary spastic paraplegia 64,DOID:0110815
hereditary spastic paraplegia 63,DOID:0110814
hereditary spastic paraplegia 74,DOID:0110819
hereditary spastic paraplegia 73,DOID:0110818
pycnodysostosis,DOID:0080038
craniometaphyseal dysplasia,DOID:0080033
fibrous dysplasia,DOID:0080031
"spondyloepimetaphyseal dysplasia, Missouri type",DOID:0080030
Worth syndrome,DOID:0080037
SOST-related sclerosing bone dysplasia,DOID:0080036
schizophrenia 4,DOID:0070080
schizophrenia 9,DOID:0070085
olfactory groove meningioma,DOID:8057
macular corneal dystrophy,DOID:2565
cervicitis,DOID:2568
retinal drusen,DOID:2569
anuria,DOID:2983
psoriasis 15,DOID:0111281
psoriasis 4,DOID:0111280
psoriasis 13,DOID:0111287
psoriasis 1,DOID:0111286
synovium cancer,DOID:2706
synovitis,DOID:2703
neuromuscular disease,DOID:440
atrophic muscular disease,DOID:913
primary hyperaldosteronism,DOID:446
renal tubular transport disease,DOID:447
distal spinal muscular atrophy 2,DOID:0111065
distal spinal muscular atrophy 1,DOID:0111064
congenital bile acid synthesis defect 6,DOID:0111067
congenital bile acid synthesis defect 5,DOID:0111066
familial hypobetalipoproteinemia 2,DOID:0111061
hyperphosphatemic familial tumoral calcinosis,DOID:0111063
familial hypobetalipoproteinemia 1,DOID:0111062
congenital bile acid synthesis defect 2,DOID:0111069
congenital bile acid synthesis defect 4,DOID:0111068
primary ciliary dyskinesia 35,DOID:0110620
primary ciliary dyskinesia 17,DOID:0110621
primary ciliary dyskinesia 9,DOID:0110622
primary ciliary dyskinesia 15,DOID:0110623
primary ciliary dyskinesia 30,DOID:0110624
primary ciliary dyskinesia 20,DOID:0110625
primary ciliary dyskinesia 2,DOID:0110626
primary ciliary dyskinesia 26,DOID:0110627
primary ciliary dyskinesia 24,DOID:0110628
Wolfram syndrome 1,DOID:0110629
B-cell lymphoma,DOID:707
mature B-cell neoplasm,DOID:706
dentin dysplasia,DOID:701
mitochondrial metabolism disease,DOID:700
capillary leak syndrome,DOID:14400
Henoch-Schoenlein purpura,DOID:11123
critical illness polyneuropathy,DOID:14402
aphasia,DOID:0060046
pervasive developmental disorder,DOID:0060040
autism spectrum disorder,DOID:0060041
sexual health disorder,DOID:0060043
ureteral disease,DOID:1426
hereditary fructose intolerance syndrome,DOID:9869
ptosis,DOID:0060260
gallbladder disease,DOID:0060262
porencephaly,DOID:0060263
pontocerebellar hypoplasia,DOID:0060264
pontocerebellar hypoplasia type 1A,DOID:0060265
pontocerebellar hypoplasia type 1B,DOID:0060266
pontocerebellar hypoplasia type 2A,DOID:0060267
pontocerebellar hypoplasia type 2B,DOID:0060268
pontocerebellar hypoplasia type 2C,DOID:0060269
Nance-Horan syndrome,DOID:0060599
dilated cardiomyopathy 1O,DOID:0110451
nonphotosensitive trichothiodystrophy 4,DOID:0050528
adult spinal muscular atrophy,DOID:0050529
adult T-cell leukemia/lymphoma,DOID:0050523
maturity-onset diabetes of the young,DOID:0050524
Gamstorp-Wohlfart syndrome,DOID:0050526
spinal meningioma,DOID:1138
pituitary infarct,DOID:1130
ear cancer,DOID:5101
middle ear disease,DOID:5100
spinocerebellar ataxia type 10,DOID:0050960
spinocerebellar ataxia type 11,DOID:0050961
ocular hypertension,DOID:9282
carbamoyl phosphate synthetase I deficiency disease,DOID:9280
phenylketonuria,DOID:9281
priapism,DOID:9286
spinocerebellar ataxia type 12,DOID:0050962
spinocerebellar ataxia type 13,DOID:0050963
spinocerebellar ataxia type 14,DOID:0050964
spinocerebellar ataxia type 15,DOID:0050965
spinocerebellar ataxia type 17,DOID:0050967
autosomal dominant dyskeratosis congenita 6,DOID:0070023
fibrous histiocytoma,DOID:4415
autosomal recessive dyskeratosis congenita 5,DOID:0070022
CST3-related cerebral amyloid angiopathy,DOID:0070027
mesenchymal chondrosarcoma,DOID:4545
Revesz syndrome,DOID:0070026
basilar artery occlusion,DOID:13446
inner ear disease,DOID:2952
pulmonary tuberculosis,DOID:2957
hyperimmunoglobulin syndrome,DOID:2959
pulmonary alveolar microlithiasis,DOID:12117
combined oxidative phosphorylation deficiency 22,DOID:0111498
combined oxidative phosphorylation deficiency 37,DOID:0111499
combined oxidative phosphorylation deficiency 4,DOID:0111494
combined oxidative phosphorylation deficiency 33,DOID:0111495
combined oxidative phosphorylation deficiency 17,DOID:0111496
combined oxidative phosphorylation deficiency 34,DOID:0111497
combined oxidative phosphorylation deficiency 26,DOID:0111490
combined oxidative phosphorylation deficiency 15,DOID:0111491
combined oxidative phosphorylation deficiency 32,DOID:0111492
combined oxidative phosphorylation deficiency 12,DOID:0111493
coronary artery disease,DOID:3393
palmoplantar keratosis,DOID:3390
age related macular degeneration 7,DOID:0110019
late-onset retinal degeneration,DOID:0060869
mal de Meleda,DOID:0060862
patterned macular dystrophy 2,DOID:0060864
age related macular degeneration 1,DOID:0110014
phobic disorder,DOID:591
cleidocranial dysplasia,DOID:13994
hepatitis B,DOID:2043
angiosarcoma,DOID:0001816
autoimmune hepatitis,DOID:2048
juvenile pilocytic astrocytoma,DOID:6811
lens disease,DOID:110
pericardial effusion,DOID:118
vaginal cancer,DOID:119
spinal stenosis,DOID:6725
catecholaminergic polymorphic ventricular tachycardia 5,DOID:0060679
catecholaminergic polymorphic ventricular tachycardia 4,DOID:0060678
catecholaminergic polymorphic ventricular tachycardia 3,DOID:0060677
catecholaminergic polymorphic ventricular tachycardia 2,DOID:0060676
catecholaminergic polymorphic ventricular tachycardia 1,DOID:0060675
catecholaminergic polymorphic ventricular tachycardia,DOID:0060674
Peters anomaly,DOID:0060673
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions,DOID:0060672
cerebral cavernous malformation 3,DOID:0060671
cerebral cavernous malformation 2,DOID:0060670
alpha thalassemia,DOID:1099
attention deficit hyperactivity disorder,DOID:1094
tooth disease,DOID:1091
lipid storage disease,DOID:9455
fatty liver disease,
adrenal gland hyperfunction,DOID:3947
pituitary-dependent Cushing's disease,DOID:3946
Usher syndrome type 2A,DOID:0110838
optic nerve disease,DOID:1891
Usher syndrome type 1D,DOID:0110831
Usher syndrome type 1C,DOID:0110830
Usher syndrome type 1F,DOID:0110832
Usher syndrome type 1G,DOID:0110834
Usher syndrome type 1J,DOID:0110836
Pelger-Huet anomaly,DOID:9631
stomatitis,DOID:9637
bone resorption disease,DOID:0080011
bone structure disease,DOID:0080010
hyper IgE syndrome,DOID:0080545
X-linked recessive disease,DOID:0080012
physical disorder,DOID:0080015
chromosomal disease,DOID:0080014
hyperprolinemia,DOID:0080541
spina bifida,DOID:0080016
metaphyseal dysplasia,DOID:0080019
Noonan syndrome with multiple lentigines 2,DOID:0080549
Noonan syndrome with multiple lentigines 1,DOID:0080548
microphthalmia,DOID:10629
hyaline body myopathy,DOID:0111267
geroderma osteodysplasticum,DOID:0111266
Boucher-Neuhauser syndrome,DOID:0111265
Ruijs-Aalfs syndrome,DOID:0111264
combined malonic and methylmalonic acidemia,DOID:0111263
pancreatic ductal adenocarcinoma,DOID:3498
fumarase deficiency,DOID:0111261
phosphoribosylpyrophosphate synthetase superactivity,DOID:0111260
Turner syndrome,DOID:3491
Noonan syndrome,DOID:3490
autosomal dominant hyaline body myopathy,DOID:0111269
autosomal recessive hyaline body myopathy,DOID:0111268
dyskeratosis congenita,DOID:2729
capillary hemangioma,DOID:2725
dermatitis,DOID:2723
brain disease,DOID:936
viral infectious disease,DOID:934
Joubert syndrome 8,DOID:0111003
Joubert syndrome 7,DOID:0111002
Joubert syndrome 6,DOID:0111001
Joubert syndrome 5,DOID:0111000
X-linked cone-rod dystrophy 3,DOID:0111007
cone-rod dystrophy 2,DOID:0111005
Joubert syndrome 9,DOID:0111004
X-linked cone-rod dystrophy 1,DOID:0111008
Evans' syndrome,DOID:8931
chronic wasting disease,DOID:3530
autonomic neuropathy,DOID:11504
diabetic autonomic neuropathy,DOID:11503
retinitis pigmentosa 12,DOID:0110358
retinitis pigmentosa 67,DOID:0110359
primary ciliary dyskinesia 19,DOID:0110608
primary ciliary dyskinesia 23,DOID:0110609
retinitis pigmentosa 19,DOID:0110354
retinitis pigmentosa 32,DOID:0110355
retinitis pigmentosa 18,DOID:0110356
retinitis pigmentosa 35,DOID:0110357
osteogenesis imperfecta type 6,DOID:0110350
osteogenesis imperfecta type 11,DOID:0110351
retinitis pigmentosa 59,DOID:0110352
retinitis pigmentosa 20,DOID:0110353
familial juvenile hyperuricemic nephropathy,DOID:0060062
sideroblastic anemia 1,DOID:0060063
non-Hodgkin lymphoma,DOID:0060060
primary cutaneous T-cell non-Hodgkin lymphoma,DOID:0060061
autosomal recessive pyridoxine-refractory sideroblastic anemia 2,DOID:0060065
developmental and epileptic encephalopathy 37,DOID:0080435
peripheral vertigo,DOID:9847
esotropia,DOID:9840
Meniere's disease,DOID:9849
Simpson-Golabi-Behmel syndrome type 1,DOID:0060248
scoliosis,DOID:0060249
MASA syndrome,DOID:0060246
Smith-McCort dysplasia,DOID:0060247
specific language impairment,DOID:0060244
Mast syndrome,DOID:0060245
synpolydactyly,DOID:0060242
stuttering,DOID:0060243
UV-sensitive syndrome,DOID:0060240
3-M syndrome,DOID:0060241
developmental and epileptic encephalopathy 51,DOID:0080433
developmental and epileptic encephalopathy 60,DOID:0080432
infantile cerebellar-retinal degeneration,DOID:0050883
primary angle-closure glaucoma,DOID:1405
lacrimal apparatus disease,DOID:1400
ischemia,DOID:326
triosephosphate isomerase deficiency,DOID:0050884
developmental and epileptic encephalopathy 65,DOID:0080430
hereditary spherocytosis,DOID:12971
oxyphilic adenoma,DOID:5389
mucocutaneous leishmaniasis,DOID:9155
chromophobe renal cell carcinoma,DOID:4471
gas gangrene,DOID:9159
familial erythrocytosis 6,DOID:0111632
congenital sucrase-isomaltase deficiency,DOID:0111633
Lambert-Eaton myasthenic syndrome,DOID:0050214
breast ductal carcinoma,DOID:3007
invasive ductal carcinoma,DOID:3008
mitochondrial complex III deficiency nuclear type 7,DOID:0080116
"contractures, pterygia, and spondylocarpotarsal fusion syndrome",DOID:0080110
mitochondrial complex III deficiency nuclear type 1,DOID:0080111
granulomatosis with polyangiitis,DOID:12132
mitochondrial complex III deficiency nuclear type 3,DOID:0080112
factor VIII deficiency,DOID:12134
mitochondrial complex III deficiency nuclear type 4,DOID:0080113
renal hypoplasia,DOID:0080204
CAKUT,DOID:0080205
CAKUT1,DOID:0080206
CAKUT2,DOID:0080207
adenoid cystic carcinoma,DOID:0080202
childhood acute myeloid leukemia,DOID:0070323
tongue cancer,DOID:8649
non-alcoholic fatty liver disease,
"sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",DOID:0080209
hemoglobin H disease,DOID:0110031
autosomal recessive Alport syndrome,DOID:0110033
Alzheimer's disease 2,DOID:0110035
X-linked Alport syndrome,DOID:0110034
complement component 5 deficiency,DOID:8158
hypertrophic cardiomyopathy 15,DOID:0110321
hypertrophic cardiomyopathy 14,DOID:0110320
hypertrophic cardiomyopathy 16,DOID:0110322
Joubert syndrome 28,DOID:0110997
hypertrophic cardiomyopathy 18,DOID:0110324
malignant exocrine pancreas neoplasm,DOID:1795
autosomal recessive limb-girdle muscular dystrophy type 2I,DOID:0110299
autosomal recessive limb-girdle muscular dystrophy type 2N,DOID:0110298
autosomal recessive limb-girdle muscular dystrophy type 2U,DOID:0110295
autosomal recessive limb-girdle muscular dystrophy type 2T,DOID:0110294
autosomal recessive limb-girdle muscular dystrophy type 2K,DOID:0110297
autosomal recessive limb-girdle muscular dystrophy type 2M,DOID:0110296
Leber congenital amaurosis 10,DOID:0110291
autosomal recessive limb-girdle muscular dystrophy type 2X,DOID:0110290
autosomal recessive limb-girdle muscular dystrophy type 2P,DOID:0110293
autosomal recessive limb-girdle muscular dystrophy type 2O,DOID:0110292
personality disorder,DOID:1510
Brugada syndrome 6,DOID:0110223
Joubert syndrome 3,DOID:0110998
pleomorphic lipoma,DOID:10192
acute monocytic leukemia,DOID:8864
dilated cardiomyopathy 1II,DOID:0110450
acute hemorrhagic leukoencephalitis,DOID:10992
squamous cell papilloma,DOID:139
autosomal recessive congenital ichthyosis,DOID:0060655
autosomal recessive congenital ichthyosis 1,DOID:0060656
MYH-9 related disease,DOID:0060651
dicarboxylic aminoaciduria,DOID:0060650
familial erythrocytosis 1,DOID:0060652
immunodeficiency-centromeric instability-facial anomalies syndrome,DOID:0090007
renal coloboma syndrome,DOID:0090006
Schwartz-Jampel syndrome 1,DOID:0090005
progressive pseudorheumatoid arthropathy of childhood,DOID:0090004
agenesis of the corpus callosum with peripheral neuropathy,DOID:0090003
Tietz syndrome,DOID:0090002
Fraser syndrome,DOID:0090001
immunodeficiency-centromeric instability-facial anomalies syndrome 2,DOID:0090009
immunodeficiency-centromeric instability-facial anomalies syndrome 1,DOID:0090008
pancytopenia,DOID:12450
central nervous system disease,DOID:331
renal glycosuria,DOID:9432
multiple intestinal atresia,DOID:14671
optic neuritis,DOID:1210
hemangioblastoma,DOID:5241
hypothyroidism,DOID:1459
corneal dystrophy,DOID:2566
familial cold autoinflammatory syndrome 4,DOID:0090065
splenic disease,DOID:2529
prostate adenocarcinoma,DOID:2526
nephrosis,DOID:2527
muscle cancer,DOID:4045
skeletal muscle cancer,DOID:4043
uveal coloboma-cleft lip and palate-intellectual disability,DOID:0111249
cerebrocostomandibular syndrome,DOID:0111248
palmoplantar keratoderma and congenital alopecia 1,DOID:0111244
hypertension and brachydactyly syndrome,DOID:0111247
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,DOID:0111246
congenital muscular dystrophy-dystroglycanopathy type A5,DOID:0111241
congenital muscular dystrophy-dystroglycanopathy type A2,DOID:0111240
acromicric dysplasia,DOID:0111243
congenital muscular dystrophy-dystroglycanopathy type A6,DOID:0111242
congenital disorder of glycosylation Ir,DOID:0080569
congenital disorder of glycosylation Iq,DOID:0080568
congenital disorder of glycosylation Im,DOID:0080565
congenital disorder of glycosylation Il,DOID:0080564
congenital disorder of glycosylation Ip,DOID:0080567
congenital disorder of glycosylation In,DOID:0080566
congenital disorder of glycosylation Ii,DOID:0080561
congenital disorder of glycosylation Ih,DOID:0080560
congenital disorder of glycosylation Ik,DOID:0080563
congenital disorder of glycosylation Ij,DOID:0080562
vascular hemostatic disease,DOID:484
cavernous hemangioma,DOID:483
movement disease,DOID:480
hemochromatosis type 1,DOID:0111029
hemochromatosis type 4,DOID:0111028
cone-rod dystrophy 15,DOID:0111021
cone-rod dystrophy 9,DOID:0111020
cone-rod dystrophy 16,DOID:0111022
cone-rod dystrophy 19,DOID:0111025
cone-rod dystrophy 18,DOID:0111024
hemochromatosis type 2A,DOID:0111027
cone-rod dystrophy 20,DOID:0111026
Fuchs' endothelial dystrophy,DOID:11555
oculomotor nerve paralysis,DOID:11550
lysosomal storage disease,DOID:3211
Pelizaeus-Merzbacher disease,DOID:3210
Charcot-Marie-Tooth disease recessive intermediate C,DOID:0110198
Charcot-Marie-Tooth disease dominant intermediate C,DOID:0110199
Charcot-Marie-Tooth disease type 4G,DOID:0110196
Charcot-Marie-Tooth disease dominant intermediate B,DOID:0110197
Charcot-Marie-Tooth disease type 4B3,DOID:0110194
Charcot-Marie-Tooth disease type 4E,DOID:0110195
Charcot-Marie-Tooth disease type 4H,DOID:0110192
Charcot-Marie-Tooth disease type 4F,DOID:0110193
Charcot-Marie-Tooth disease type 4B2,DOID:0110190
Charcot-Marie-Tooth disease type 4B1,DOID:0110191
endocardial fibroelastosis,DOID:12929
hereditary sensory neuropathy type 1E,DOID:0070158
hereditary sensory and autonomic neuropathy type 1C,DOID:0070157
hereditary sensory neuropathy type 1D,DOID:0070156
hereditary sensory and autonomic neuropathy type 2A,DOID:0070155
hereditary sensory neuropathy type 1F,DOID:0070154
hereditary sensory and autonomic neuropathy type 8,DOID:0070153
infratentorial cancer,DOID:4706
hereditary sensory and autonomic neuropathy type 6,DOID:0070151
hereditary sensory and autonomic neuropathy type 2B,DOID:0070150
muscular dystrophy,DOID:9884
retinitis pigmentosa 55,DOID:0110370
retinitis pigmentosa 41,DOID:0110376
retinitis pigmentosa 49,DOID:0110377
retinitis pigmentosa 68,DOID:0110374
retinitis pigmentosa 40,DOID:0110375
Creutzfeldt-Jakob disease,DOID:11949
familial cold autoinflammatory syndrome 2,DOID:0090063
FG syndrome,DOID:14711
mixed gonadal dysgenesis,DOID:14449
band keratopathy,DOID:11164
gonadal dysgenesis,DOID:14447
neonatal respiratory failure,DOID:11161
respiratory failure,DOID:11162
janus kinase-3 deficiency,DOID:0060008
MHC class I deficiency,DOID:0060009
conjunctivitis,DOID:6195
infective endocarditis,DOID:0060000
withdrawal disorder,DOID:0060001
C1 inhibitor deficiency,DOID:0060002
autoimmune disease of central nervous system,DOID:0060004
autoimmune disease of endocrine system,DOID:0060005
ileitis,DOID:0060189
Stargardt disease,DOID:0050817
liver benign neoplasm,DOID:916
amyotrophic neuralgia,DOID:10383
Bartter disease,DOID:445
3-methylglutaconic aciduria type 5,DOID:0110000
substance-related disorder,DOID:303
substance abuse,DOID:302
carcinoma,DOID:305
hyperlipoproteinemia type V,DOID:1171
hyperlipoproteinemia type IV,DOID:1172
right atrial isomerism,DOID:0060856
early myoclonic encephalopathy,DOID:308
3-methylglutaconic aciduria type 1,DOID:0110002
visual epilepsy,DOID:11832
cortical blindness,DOID:11831
myopia,DOID:11830
clubfoot,DOID:11836
riboflavin deficiency,DOID:8454
Pierson syndrome,DOID:0060852
pemphigus vulgaris,DOID:0060851
nonpapillary renal cell carcinoma,DOID:0050387
Sneddon syndrome,DOID:13096
vertebral artery insufficiency,DOID:13095
brachydactyly type B2,DOID:0110975
Moyamoya disease,DOID:13099
brachydactyly type C,DOID:0110970
brachydactyly type D,DOID:0110971
brachydactyly type E1,DOID:0110972
androgen insensitivity syndrome,DOID:4674
uremic neuropathy,DOID:4675
uremia,DOID:4676
keratitis,DOID:4677
mucosal melanoma,DOID:0050929
acinar cell carcinoma,DOID:3025
childhood ependymoma,DOID:5509
cellular ependymoma,DOID:5500
papillary ependymoma,DOID:5505
low tension glaucoma,DOID:13544
hyperparathyroidism,DOID:13543
lymphocytic choriomeningitis,DOID:12155
renal cell carcinoma,DOID:4450
renal carcinoma,DOID:4451
multiple epiphyseal dysplasia 7,DOID:0070302
epidermolytic palmoplantar keratoderma,DOID:0080223
craniolenticulosutural dysplasia,DOID:0070307
multiple epiphyseal dysplasia 3,DOID:0070304
syndromic X-linked intellectual disability Shashi type,DOID:0060826
X-linked intellectual disability-psychosis-macroorchidism syndrome,DOID:0060827
syndromic X-linked intellectual disability Raymond type,DOID:0060824
Christianson syndrome,DOID:0060825
syndromic X-linked intellectual disability Cabezas type,DOID:0060822
syndromic X-linked intellectual disability 94,DOID:0060823
syndromic X-linked intellectual disability Nascimento type,DOID:0060820
syndromic X-linked intellectual disability 14,DOID:0060821
Leber hereditary optic neuropathy,DOID:705
ectodermal dysplasia 12,DOID:0111652
Loeys-Dietz syndrome 5,DOID:0070236
papillary craniopharyngioma,DOID:3847
developmental and epileptic encephalopathy 63,DOID:0080426
hepatobiliary system cancer,DOID:0080355
X-linked chondrodysplasia punctata 2,DOID:0080352
ectodermal dysplasia 11A,DOID:0111653
retinitis pigmentosa 77,DOID:0080350
dystonia,DOID:543
thyroid lymphoma,DOID:10011
multiple endocrine neoplasia type 2B,DOID:10016
multiple endocrine neoplasia type 1,DOID:10017
ectodermal dysplasia 13,DOID:0111650
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2,
constipation,
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3,
optic papillitis,DOID:10175
kernicterus,DOID:2382
retinitis pigmentosa with or without situs inversus,DOID:0110419
retinitis pigmentosa 2,DOID:0110415
retinitis pigmentosa 3,DOID:0110414
retinitis pigmentosa 23,DOID:0110412
retinitis pigmentosa 60,DOID:0110411
disease of mental health,DOID:150
permanent neonatal diabetes mellitus,DOID:0060639
neonatal diabetes mellitus with congenital hypothyroidism,DOID:0060638
nephronophthisis,DOID:12712
CINCA Syndrome,DOID:0090029
familial isolated deficiency of vitamin E,DOID:0090028
Ellis-Van Creveld syndrome,DOID:12714
split hand-foot malformation 3,DOID:0090025
split hand-foot malformation 1 with sensorineural hearing loss,DOID:0090024
split hand-foot malformation 2,DOID:0090027
split hand-foot malformation 6,DOID:0090026
split hand-foot malformation 1,DOID:0090021
split hand-foot malformation,DOID:0090020
split hand-foot malformation 4,DOID:0090023
split hand-foot malformation 5,DOID:0090022
liver cirrhosis,DOID:5082
panhypopituitarism,DOID:9410
allergic asthma,DOID:9415
prostatitis,DOID:14654
color blindness,DOID:13399
gender incongruence,DOID:1234
nephrogenic diabetes insipidus,DOID:12387
neurohypophyseal diabetes insipidus,DOID:12388
methylmalonic aciduria and homocystinuria type cblF,DOID:0050717
methylmalonic aciduria and homocystinuria type cblD,DOID:0050716
methylmalonic aciduria and homocystinuria type cblC,DOID:0050715
AGAT deficiency,DOID:0050712
aceruloplasminemia,DOID:0050711
3-methylcrotonyl-CoA carboxylase deficiency,DOID:0050710
lung non-small cell carcinoma,DOID:3908
cerebral folate receptor alpha deficiency,DOID:0050719
vitamin metabolic disorder,DOID:0050718
Takayasu's arteritis,DOID:2508
ureterocele,DOID:4022
gastritis,DOID:4029
congenital muscular dystrophy-dystroglycanopathy type A,DOID:0111229
Sveinsson chorioretinal atrophy,DOID:0111228
centronuclear myopathy 1,DOID:0111223
centronuclear myopathy 5,DOID:0111222
centronuclear myopathy 6 with fiber-type disproportion,DOID:0111221
centronuclear myopathy 2,DOID:0111220
chromosome 3-linked frontotemporal dementia,DOID:0111227
centronuclear myopathy X-linked,DOID:0111225
centronuclear myopathy 4,DOID:0111224
Cornelia de Lange syndrome 5,DOID:0080509
Cornelia de Lange syndrome 4,DOID:0080508
multiple congenital anomalies-hypotonia-seizures syndrome,DOID:0080503
GM1 gangliosidosis type 1,DOID:0080502
GM1 gangliosidosis type 2,DOID:0080501
ovarian dysgenesis 8,DOID:0080500
Cornelia de Lange syndrome 3,DOID:0080507
Cornelia de Lange syndrome 2,DOID:0080506
Cornelia de Lange syndrome 1,DOID:0080505
Parkinson's disease 22,DOID:0080504
Bowen-Conradi syndrome,DOID:0050684
upper respiratory tract disease,DOID:974
"congenital heart defects, hamartomas of tongue, and polysyndactyly",DOID:0111591
Cohen syndrome,DOID:0111590
plasminogen deficiency type I,DOID:0111592
congenital contractural arachnodactyly,DOID:0111595
distal arthrogryposis type 5D,DOID:0111594
distal arthrogryposis type 1A,DOID:0111597
distal arthrogryposis type 1,DOID:0111596
distal arthrogryposis type 2B,DOID:0111599
distal arthrogryposis type 1B,DOID:0111598
Athabaskan brainstem dysgenesis syndrome,DOID:0050682
cystadenocarcinoma,DOID:3111
papillary carcinoma,DOID:3113
thymoma,DOID:3275
thymus cancer,DOID:3277
neuronal ceroid lipofuscinosis 10,DOID:0110725
alcoholic liver cirrhosis,DOID:14018
Charcot-Marie-Tooth disease axonal type 2L,DOID:0110174
Charcot-Marie-Tooth disease axonal type 2O,DOID:0110175
Charcot-Marie-Tooth disease axonal type 2X,DOID:0110176
Charcot-Marie-Tooth disease axonal type 2N,DOID:0110177
Charcot-Marie-Tooth disease axonal type 2Q,DOID:0110170
Charcot-Marie-Tooth disease axonal type 2S,DOID:0110171
Charcot-Marie-Tooth disease axonal type 2U,DOID:0110173
Charcot-Marie-Tooth disease axonal type 2V,DOID:0110178
Charcot-Marie-Tooth disease type 2B2,DOID:0110179
congenital myasthenic syndrome 4B,DOID:0110677
spermatogenic failure 17,DOID:0070174
spermatogenic failure 22,DOID:0070177
spermatogenic failure 4,DOID:0070176
spermatogenic failure 12,DOID:0070171
spermatogenic failure 19,DOID:0070170
spermatogenic failure 7,DOID:0070173
spermatogenic failure 15,DOID:0070172
spermatogenic failure 14,DOID:0070179
spermatogenic failure 10,DOID:0070178
hypertrophic cardiomyopathy 4,DOID:0110310
hypertrophic cardiomyopathy 6,DOID:0110312
hypertrophic cardiomyopathy 7,DOID:0110313
hypertrophic cardiomyopathy 8,DOID:0110314
hypertrophic cardiomyopathy 9,DOID:0110315
hypertrophic cardiomyopathy 10,DOID:0110316
hypertrophic cardiomyopathy 11,DOID:0110317
hypertrophic cardiomyopathy 12,DOID:0110318
hypertrophic cardiomyopathy 13,DOID:0110319
oral cavity cancer,DOID:8618
recurrent hypersomnia,DOID:8619
familial hemophagocytic lymphohistiocytosis 2,DOID:0110922
pituitary hypoplasia,DOID:7378
neuroleptic malignant syndrome,DOID:14464
torsion dystonia 4,DOID:0090041
congenital myasthenic syndrome 11,DOID:0110675
agammaglobulinemia 4,DOID:0060027
immunoglobulin alpha deficiency,DOID:0060025
CD40 ligand deficiency,DOID:0060022
immunodeficiency with hyper IgM type 3,DOID:0060023
reticular dysgenesis,DOID:0060020
DNA ligase IV deficiency,DOID:0060021
multiple epiphyseal dysplasia with myopia and deafness,DOID:0111348
familial hemophagocytic lymphohistiocytosis 4,DOID:0110924
autoimmune disease of exocrine system,DOID:0060029
Guillain-Barre syndrome,DOID:12842
persistent hyperplastic primary vitreous,DOID:0060282
peeling skin syndrome,DOID:0060283
primary pigmented nodular adrenocortical disease,DOID:0060280
combined oxidative phosphorylation deficiency,DOID:0060286
cornea plana,DOID:0060287
paroxysmal nocturnal hemoglobinuria,DOID:0060284
parietal foramina,DOID:0060285
omodysplasia,DOID:0060288
Ohdo syndrome,DOID:0060289
nasal cavity cancer,DOID:10811
autistic disorder,DOID:12849
chikungunya,DOID:0050012
Koolen de Vries syndrome,DOID:0050880
bladder disease,DOID:365
uterine cancer,DOID:363
epidural abscess,DOID:11387
monocular exotropia,DOID:11853
spinocerebellar ataxia type 27,DOID:0050976
spinocerebellar ataxia type 29,DOID:0050978
well-differentiated liposarcoma,DOID:5690
Gaucher's disease type II,DOID:0110958
Gaucher's disease type III,DOID:0110959
Waardenburg syndrome type 2D,DOID:0110952
Waardenburg syndrome type 4A,DOID:0110953
Waardenburg syndrome type 2A,DOID:0110950
Waardenburg syndrome type 2E,DOID:0110956
Gaucher's disease type I,DOID:0110957
Waardenburg syndrome type 4B,DOID:0110954
Waardenburg syndrome type 4C,DOID:0110955
periapical granuloma,DOID:4617
intestinal benign neoplasm,DOID:4610
myelodysplastic syndrome,DOID:0050908
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue,DOID:0050909
Churg-Strauss syndrome,DOID:3049
food allergy,DOID:3044
allergic contact dermatitis,DOID:3042
salivary gland carcinoma,DOID:0050904
dysgammaglobulinemia,DOID:11702
aspergillosis,DOID:13564
head and neck squamous cell carcinoma,DOID:5520
familial adult myoclonic epilepsy 2,DOID:0111692
Crouzon syndrome-acanthosis nigricans syndrome,DOID:0111161
common variable immunodeficiency,DOID:12177
goiter,DOID:12176
familial adult myoclonic epilepsy 1,DOID:0111690
dyskinesia of esophagus,DOID:9192
breast secretory carcinoma,DOID:4922
Klippel-Feil syndrome 3,DOID:0080591
bronchiolo-alveolar adenocarcinoma,DOID:4926
intrahepatic cholangiocarcinoma,DOID:4928
"cleft palate, cardiac defects, and intellectual disabillity",DOID:0111697
erythrokeratodermia variabilis et progressiva 2,DOID:0080248
erythrokeratodermia variabilis et progressiva 3,DOID:0080249
familial adult myoclonic epilepsy 7,DOID:0111694
non-syndromic X-linked intellectual disability 106,DOID:0080240
syndromic X-linked mental retardation 35,DOID:0080241
syndromic X-linked mental retardation Hough type,DOID:0080242
familial adult myoclonic epilepsy 3,DOID:0111695
Galloway-Mowat syndrome 2,DOID:0080244
Galloway-Mowat syndrome 3,DOID:0080245
Galloway-Mowat syndrome 4,DOID:0080246
Galloway-Mowat syndrome 5,DOID:0080247
periampullary adenocarcinoma,DOID:8110
brain ischemia,DOID:2316
autosomal dominant nonsyndromic deafness 3A,DOID:0110564
hereditary spastic paraplegia 35,DOID:0110786
hereditary spastic paraplegia 33,DOID:0110784
hereditary spastic paraplegia 31,DOID:0110782
hereditary spastic paraplegia 30,DOID:0110781
osteonecrosis,DOID:10159
intestinal cancer,DOID:10155
subacute thyroiditis,DOID:7165
thyroiditis,DOID:7166
dilated cardiomyopathy 1GG,DOID:0110435
dilated cardiomyopathy 1Z,DOID:0110434
dilated cardiomyopathy 1L,DOID:0110436
dilated cardiomyopathy 1I,DOID:0110431
dilated cardiomyopathy 1G,DOID:0110430
dilated cardiomyopathy 1E,DOID:0110433
dilated cardiomyopathy 1NN,DOID:0110432
intermediate coronary syndrome,DOID:8805
dilated cardiomyopathy 1P,DOID:0110439
dilated cardiomyopathy 1JJ,DOID:0110438
endocrine gland cancer,DOID:170
neuroectodermal tumor,DOID:171
cardiovascular cancer,DOID:176
acanthoma,DOID:174
vascular cancer,DOID:175
vascular disease,DOID:178
XFE progeroid syndrome,DOID:0060590
WHIM syndrome,DOID:0060591
"atypical chronic myeloid leukemia, BCR-ABL1 negative",DOID:0060597
paroxysmal nonkinesigenic dyskinesia 1,DOID:0090049
dystonia 16,DOID:0090048
dystonia 5,DOID:0090043
childhood onset GLUT1 deficiency syndrome 2,DOID:0090045
dystonia 9,DOID:0090044
uterine corpus myxoid leiomyosarcoma,DOID:6567
chronic leukemia,DOID:1036
pericarditis,DOID:1787
adrenal rest tumor,DOID:1786
pituitary cancer,DOID:1785
thyroid gland cancer,
hereditary spherocytosis type 5,DOID:0110920
"microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",DOID:0060349
hypoparathyroidism-retardation-dysmorphism syndrome,DOID:0060348
megacystis-microcolon-intestinal hypoperistalsis syndrome,DOID:0060610
abdominal obesity-metabolic syndrome 3,DOID:0060612
glucocorticoid-induced osteoporosis,DOID:0060343
acromelic frontonasal dysostosis,DOID:0060342
agnathia-otocephaly complex,DOID:0060341
ciliopathy,DOID:0060340
"fructose-1,6-bisphosphatase deficiency",DOID:5204
trichuriasis,DOID:1252
inflammatory bowel disease 13,DOID:0110893
inflammatory bowel disease 1,DOID:0110892
inflammatory bowel disease 19,DOID:0110890
inflammatory bowel disease 14,DOID:0110895
nemaline myopathy 1,DOID:0110926
autosomal genetic disease,DOID:0050739
X-linked monogenic disease,DOID:0050735
congenital intrinsic factor deficiency,DOID:0050734
autosomal recessive disease,DOID:0050737
autosomal dominant disease,DOID:0050736
vitamin B12 deficiency,DOID:0050731
coenzyme Q10 deficiency disease,DOID:0050730
anus benign neoplasm,DOID:4551
ovarian carcinoma,DOID:4001
bladder carcinoma,DOID:4007
bladder urothelial carcinoma,DOID:4006
distal hereditary motor neuronopathy type 7A,DOID:0111201
distal hereditary motor neuronopathy type 5,DOID:0111203
distal hereditary motor neuronopathy type 7B,DOID:0111202
distal hereditary motor neuronopathy type 5B,DOID:0111205
distal hereditary motor neuronopathy type 5A,DOID:0111204
distal hereditary motor neuropathy type 2B,
distal hereditary motor neuronopathy type 2C,DOID:0111209
distal hereditary motor neuronopathy type 2A,DOID:0111208
lung non-squamous non-small cell carcinoma,DOID:0080521
Tn polyagglutination syndrome,DOID:0080520
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,DOID:0080523
thyroid gland anaplastic carcinoma,DOID:0080522
differentiated thyroid gland carcinoma,DOID:0080525
thyroid gland adenocarcinoma,DOID:0080524
congenital heart block,DOID:990
hypereosinophilic syndrome,DOID:999
anovulation,DOID:3781
Coffin-Lowry syndrome,DOID:3783
Riley-Day syndrome,DOID:11589
developmental and epileptic encephalopathy 39,DOID:0080349
POEMS syndrome,DOID:14039
fissured tongue,DOID:11514
cerebral arterial disease,DOID:3527
cerebral infarction,DOID:3526
nephrotic syndrome type 11,DOID:0080385
nephrotic syndrome type 6,DOID:0080384
nephrotic syndrome type 12,DOID:0080387
nephrotic syndrome type 10,DOID:0080386
nephrotic syndrome type 13,DOID:0080381
nephrotic syndrome type 5,DOID:0080380
nephrotic syndrome type 4,DOID:0080383
gingival recession,DOID:1134
nephrotic syndrome type 8,DOID:0080389
nephrotic syndrome type 7,DOID:0080388
Charcot-Marie-Tooth disease type 1B,DOID:0110152
Charcot-Marie-Tooth disease type 1E,DOID:0110153
Charcot-Marie-Tooth disease type 1D,DOID:0110150
Charcot-Marie-Tooth disease type 1C,DOID:0110151
Charcot-Marie-Tooth disease type 2B1,DOID:0110156
Charcot-Marie-Tooth disease type 2J,DOID:0110157
Charcot-Marie-Tooth disease type 2A1,DOID:0110154
parasitic protozoa infectious disease,DOID:2789
cerebellar disease,DOID:2786
Dandy-Walker syndrome,DOID:2785
acrocephalosyndactylia,DOID:12960
Niemann-Pick disease type C1,DOID:0070113
Niemann-Pick disease type B,DOID:0070112
Niemann-Pick disease type A,DOID:0070111
Meckel syndrome 3,DOID:0070117
Meckel syndrome 2,DOID:0070116
osteogenesis imperfecta type 17,DOID:0110338
osteogenesis imperfecta type 3,DOID:0110339
osteogenesis imperfecta type 7,DOID:0110337
Meckel syndrome 5,DOID:0070119
Meckel syndrome 4,DOID:0070118
Leber congenital amaurosis 4,DOID:0110332
Leber congenital amaurosis 13,DOID:0110330
Leber congenital amaurosis 3,DOID:0110331
Bardet-Biedl syndrome 16,DOID:0110138
Bardet-Biedl syndrome 17,DOID:0110139
axonal neuropathy,DOID:7319
fibrous meningioma,DOID:7211
atypical teratoid rhabdoid tumor,DOID:2129
focal dermal hypoplasia,DOID:2120
ectodermal dysplasia,DOID:2121
Bardet-Biedl syndrome 10,DOID:0110132
Bardet-Biedl syndrome 11,DOID:0110133
optic atrophy,DOID:5723
Usher syndrome type 1,DOID:0110826
Brugada syndrome 5,DOID:0110222
hereditary spastic paraplegia 8,DOID:0110823
dental enamel hypoplasia,DOID:693
mitochondrial myopathy,DOID:699
mineral metabolism disease,DOID:0050032
systemic mastocytosis,DOID:349
uterine disease,DOID:345
peripheral vascular disease,DOID:341
chromosome 19q13.11 deletion syndrome,DOID:0060408
NFIA-related disorder,DOID:0060409
chromosome 17q12 deletion syndrome,DOID:0060404
chromosome 18q deletion syndrome,DOID:0060407
chromosome 17p13.1 deletion syndrome,DOID:0060402
chromosome 17q11.2 deletion syndrome,DOID:0060403
high myopia-sensorineural deafness syndrome,DOID:0111628
Dent disease,DOID:0050699
Brody myopathy,DOID:0050692
Brooke-Spiegler syndrome,DOID:0050693
brachyolmia,DOID:0050690
branchiooculofacial syndrome,DOID:0050691
fetal alcohol spectrum disorder,DOID:0050696
chorioamnionitis,DOID:0050697
Brown-Vialetto-Van Laere syndrome,DOID:0050694
nemaline myopathy 8,DOID:0110930
nemaline myopathy 10,DOID:0110931
nemaline myopathy 4,DOID:0110932
nemaline myopathy 11,DOID:0110933
nemaline myopathy 7,DOID:0110934
nemaline myopathy 6,DOID:0110935
nemaline myopathy 5,
autosomal dominant osteopetrosis 1,DOID:0110937
autosomal dominant osteopetrosis 2,DOID:0110938
autosomal recessive osteopetrosis 5,DOID:0110939
lichen planus,DOID:9201
Barrett's esophagus,DOID:9206
nasal cavity inverting papilloma,DOID:4633
Pick's disease,DOID:11870
facioscapulohumeral muscular dystrophy,DOID:11727
Emery-Dreifuss muscular dystrophy,DOID:11726
Cornelia de Lange syndrome,DOID:11725
limb-girdle muscular dystrophy,DOID:11724
Duchenne muscular dystrophy,DOID:11723
myotonic dystrophy type 1,DOID:11722
glycogen storage disease VII,DOID:11721
distal myopathy,DOID:11720
"autosomal dominant cerebellar ataxia, deafness and narcolepsy",DOID:0050968
spinocerebellar ataxia type 18,DOID:0050969
glioblastoma,DOID:3068
malignant astrocytoma,DOID:3069
Lyme disease,DOID:11729
cholestasis,DOID:13580
autosomal dominant cutis laxa 1,DOID:0070130
autosomal recessive cutis laxa type IB,DOID:0070133
muscular disease,DOID:0080000
autosomal recessive cutis laxa type IA,DOID:0070135
avian influenza,DOID:4492
bone disease,DOID:0080001
congenital myopathy 4A,DOID:0080102
cholangiocarcinoma,DOID:4947
gastroesophageal junction adenocarcinoma,DOID:4944
autosomal dominant cutis laxa 2,DOID:0070136
gallbladder carcinoma,DOID:4948
primary ciliary dyskinesia 37,DOID:0080266
autosomal dominant nonsyndromic deafness 71,DOID:0080267
exudative vitreoretinopathy 7,DOID:0080264
nephrotic syndrome type 14,DOID:0080265
autosomal recessive nonsyndromic deafness 107,DOID:0080262
autosomal recessive nonsyndromic deafness 108,DOID:0080263
autosomal recessive spinocerebellar ataxia 26,DOID:0080260
autosomal recessive nonsyndromic deafness 106,DOID:0080261
autosomal dominant nonsyndromic deafness 72,DOID:0080268
autosomal dominant nonsyndromic deafness 73,DOID:0080269
adrenoleukodystrophy,DOID:10588
retinitis pigmentosa,DOID:10584
Krabbe disease,DOID:10587
metachromatic leukodystrophy,DOID:10581
Refsum disease,DOID:10582
Crouzon syndrome,DOID:2339
trichohepatoenteric syndrome 1,DOID:0111415
trichohepatoenteric syndrome 2,DOID:0111416
familial chylomicronemia syndrome,DOID:0111417
exudative vitreoretinopathy 6,DOID:0111410
exudative vitreoretinopathy 4,DOID:0111411
exudative vitreoretinopathy 1,DOID:0111412
X-linked exudative vitreoretinopathy 2,DOID:0111413
familial apolipoprotein C-II deficiency,DOID:0111418
breast carcinoma in situ,DOID:8791
xerophthalmia,DOID:10138
psychosexual disorder,DOID:10132
ankylosing spondylitis,DOID:7147
Langerhans cell sarcoma,DOID:7146
rheumatoid arthritis,DOID:7148
bone development disease,DOID:0080006
dilated cardiomyopathy 1EE,DOID:0110453
molluscum contagiosum,DOID:8867
actinic keratosis,DOID:8866
dilated cardiomyopathy 1Y,DOID:0110457
dilated cardiomyopathy 1R,DOID:0110456
dilated cardiomyopathy 1U,DOID:0110455
dilated cardiomyopathy 1S,DOID:0110454
dilated cardiomyopathy 1FF,DOID:0110459
dilated cardiomyopathy 1BB,DOID:0110458
neuromyelitis optica,DOID:8869
bone deterioration disease,DOID:0080007
bone remodeling disease,DOID:0080005
familial cold autoinflammatory syndrome,DOID:0090061
Wolcott-Rallison syndrome,DOID:0090060
familial cold autoinflammatory syndrome 1,DOID:0090062
familial cold autoinflammatory syndrome 3,DOID:0090064
Fuhrmann syndrome,DOID:0090067
trachoma,DOID:11265
giant axonal neuropathy 2,DOID:0090069
giant axonal neuropathy 1,DOID:0090068
familial combined hyperlipidemia,DOID:13809
acne,DOID:6543
colitis,DOID:0060180
collagenous colitis,DOID:0060183
angiomatous meningioma,DOID:6548
osteomyelitis,DOID:1019
Johanson-Blizzard syndrome,DOID:14694
galactokinase deficiency,DOID:14695
Smith-Lemli-Opitz syndrome,DOID:14692
Clouston syndrome,DOID:14693
thrombocytopenia-absent radius syndrome,DOID:14699
mandibulofacial dysostosis with alopecia,DOID:0060365
Galloway-Mowat syndrome 1,DOID:0060364
Parkinson's disease 1,DOID:0060367
Hennekam syndrome,DOID:0060366
punctate palmoplantar keratoderma,DOID:0060361
glycerol kinase deficiency,DOID:0060363
Parkinson's disease 6,DOID:0060369
Parkinson's disease 2,DOID:0060368
spinocerebellar ataxia type 31,DOID:0050980
Nasu-Hakola disease,DOID:0090112
Sorsby's fundus dystrophy,DOID:0090114
esophageal cancer,DOID:5041
medulloepithelioma,DOID:4790
"GM2 gangliosidosis, AB variant",DOID:4795
ependymoblastoma,
myotonic dystrophy type 2,DOID:0050759
metabolic acidosis,DOID:0050758
cerebellar ataxia,DOID:0050753
amyotrophic lateral sclerosis type 8,DOID:0050752
deafness-dystonia-optic neuronopathy syndrome,DOID:0050757
ataxia with oculomotor apraxia type 2,
ataxia with oculomotor apraxia type 1,DOID:0050754
ocular motility disease,DOID:1279
respiratory syncytial virus infectious disease,DOID:1273
telangiectasis,DOID:1272
hereditary hemorrhagic telangiectasia,DOID:1270
acute necrotizing encephalitis,DOID:5222
infertility,DOID:5223
ovarian sex-cord stromal tumor,DOID:0080369
Fanconi anemia complementation group D1,DOID:0111089
Fanconi anemia complementation group F,DOID:0111088
Fanconi anemia complementation group D2,DOID:0111083
Fanconi anemia complementation group L,DOID:0111082
Fanconi anemia complementation group T,DOID:0111081
Fanconi anemia complementation group V,DOID:0111080
Fanconi anemia complementation group C,DOID:0111087
Fanconi anemia complementation group G,DOID:0111086
Fanconi anemia complementation group U,DOID:0111085
Fanconi anemia complementation group E,DOID:0111084
melanoma,DOID:1909
tooth resorption,DOID:13240
Behcet's disease,DOID:13241
X-linked Aarskog syndrome,DOID:6683
spondylolisthesis,DOID:6682
panuveitis,DOID:12030
parathyroid gland benign neoplasm,DOID:60008
pituitary gland benign neoplasm,DOID:60009
dermatofibrosarcoma protuberans,DOID:3507
malignant cystadenoma,DOID:60004
ampulla of Vater adenocarcinoma,DOID:3502
pulmonary artery disease,DOID:60001
primary autosomal recessive microcephaly 13,DOID:0070283
primary autosomal recessive microcephaly 8,DOID:0070282
primary autosomal recessive microcephaly 19,DOID:0070281
primary autosomal recessive microcephaly 5,DOID:0070280
primary autosomal recessive microcephaly 11,DOID:0070287
primary autosomal recessive microcephaly 3,DOID:0070286
primary autosomal recessive microcephaly 1,DOID:0070285
primary autosomal recessive microcephaly 12,DOID:0070284
Bardet-Biedl syndrome 8,DOID:0110130
Bardet-Biedl syndrome 9,DOID:0110131
primary autosomal recessive microcephaly 16,DOID:0070289
primary autosomal recessive microcephaly 17,DOID:0070288
Bardet-Biedl syndrome 12,DOID:0110134
Bardet-Biedl syndrome 13,DOID:0110135
Bardet-Biedl syndrome 14,DOID:0110136
Bardet-Biedl syndrome 15,DOID:0110137
dihydropyrimidinase deficiency,DOID:0111629
DOORS syndrome,DOID:0111627
D-glyceric aciduria,DOID:0111626
ventriculomegaly - cystic kidney disease,DOID:0111625
ACTH-independent macronodular adrenal hyperplasia 2,DOID:0111624
ACTH-independent macronodular adrenal hyperplasia 1,DOID:0111623
ACTH-independent macronodular adrenal hyperplasia,DOID:0111622
Temtamy syndrome,DOID:0111621
corneal dystrophy-perceptive deafness syndrome,DOID:0111620
autosomal recessive cutis laxa type IC,DOID:0070139
autosomal recessive cutis laxa type IIIB,DOID:0070138
infantile myofibromatosis,DOID:0080109
myoglobinuria,DOID:0080108
autosomal dominant cutis laxa 3,DOID:0070131
microcephaly and chorioretinopathy 2,DOID:0080106
microcephaly and chorioretinopathy 1,DOID:0080105
autosomal recessive cutis laxa type IIIA,DOID:0070132
Fanconi anemia,DOID:13636
autosomal recessive cutis laxa type IIB,DOID:0070137
congenital myopathy,DOID:0081337
congenital myopathy,DOID:0080100
congenital myasthenic syndrome 16,DOID:0110682
congenital myasthenic syndrome 18,DOID:0110683
congenital myasthenic syndrome 2C,DOID:0110680
chickenpox,DOID:8659
"Hodgkin's lymphoma, mixed cellularity",DOID:8654
pilomyxoid astrocytoma,DOID:4845
subependymal glioma,DOID:4843
congenital stationary night blindness 1E,DOID:0110869
Hajdu-Cheney syndrome,DOID:2736
benign giant cell tumor,DOID:200
connective tissue cancer,DOID:201
tricuspid valve prolapse,DOID:5644
vulva squamous cell carcinoma,DOID:2101
myotonia congenita,DOID:2106
autoimmune lymphoproliferative syndrome,DOID:6688
hemarthrosis,DOID:801
leukodystrophy,DOID:10579
ascariasis,DOID:456
salivary gland disease,DOID:10854
myotonic disease,DOID:450
calcium metabolism disease,DOID:10575
homocarnosinosis,DOID:0060177
hypomyelinating leukodystrophy 6,DOID:0060798
syndromic X-linked intellectual disability Lubs type,DOID:0060799
hypomyelinating leukodystrophy 7,DOID:0060794
hypomyelinating leukodystrophy 13,DOID:0060795
hypomyelinating leukodystrophy 8,DOID:0060797
hypomyelinating leukodystrophy 3,DOID:0060790
hypomyelinating leukodystrophy 9,DOID:0060791
hypomyelinating leukodystrophy 11,DOID:0060792
hypomyelinating leukodystrophy 5,DOID:0060793
cystic fibrosis,DOID:1485
gingival disease,DOID:1483
autosomal recessive nonsyndromic deafness 101,DOID:0110462
autosomal recessive nonsyndromic deafness 102,DOID:0110463
advanced sleep phase syndrome 3,DOID:0110013
advanced sleep phase syndrome 2,DOID:0110012
advanced sleep phase syndrome 1,DOID:0110011
SATB2-associated syndrome,DOID:0060428
chromosomal duplication syndrome,DOID:0060429
chromosome 4q21 deletion syndrome,DOID:0060420
chromosome 19p13.13 deletion syndrome,DOID:0060426
age related macular degeneration 2,DOID:0110015
patterned macular dystrophy 3,DOID:0060865
hypomyelinating leukodystrophy 12,DOID:0060796
Newfoundland cone-rod dystrophy,DOID:0111015
congenital stationary night blindness 1H,DOID:0110866
hereditary spherocytosis type 1,DOID:0110916
infantile hypophosphatasia,DOID:0110914
childhood hypophosphatasia,DOID:0110915
leukocyte adhesion deficiency 3,DOID:0110912
adult hypophosphatasia,DOID:0110913
leukocyte adhesion deficiency 1,DOID:0110910
dengue disease,DOID:12205
dengue hemorrhagic fever,DOID:12206
central sleep apnea,DOID:9220
microcystic meningioma,DOID:4594
malignant teratoma,DOID:5563
ovarian germ cell teratoma,DOID:5567
mature teratoma,DOID:5566
Wolfram syndrome 2,DOID:0110630
Nelson syndrome,DOID:4968
neurotic disorder,DOID:4964
bone marrow cancer,DOID:4960
bone marrow disease,DOID:4961
transient myeloproliferative syndrome,DOID:0060888
prune belly syndrome,DOID:0060889
renal hypomagnesemia 3,DOID:0060880
renal hypomagnesemia 5 with ocular involvement,DOID:0060881
renal hypomagnesemia 4,DOID:0060882
intestinal hypomagnesemia 1,DOID:0060883
renal hypomagnesemia 6,DOID:0060884
renal hypomagnesemia 2,DOID:0060885
osteopathia striata with cranial sclerosis,DOID:0060886
ossification of the posterior longitudinal ligament of spine,DOID:0060887
alternating exotropia,DOID:1142
complement factor I deficiency,DOID:0050419
autosomal dominant hypophosphatemic rickets,DOID:0050948
autosomal recessive hypophosphatemic rickets,DOID:0050949
Charlevoix-Saguenay spastic ataxia,DOID:0050946
hereditary hypophosphatemic rickets with hypercalciuria,DOID:0050947
spastic ataxia 5,DOID:0050944
spastic ataxia 3,DOID:0050942
spastic ataxia 4,DOID:0050943
spastic ataxia 2,DOID:0050941
developmental and epileptic encephalopathy 31A,DOID:0080437
developmental and epileptic encephalopathy 4,DOID:0080436
anemia,DOID:2355
iron metabolism disease,DOID:2351
progressive familial intrahepatic cholestasis 3,DOID:0070223
hemochromatosis,DOID:2352
progressive familial intrahepatic cholestasis 2,DOID:0070222
blepharospasm,DOID:529
central nervous system vasculitis,DOID:525
clear cell meningioma,DOID:4210
human immunodeficiency virus infectious disease,DOID:526
blepharocheilodontic syndrome,DOID:0080344
malignant pheochromocytoma,DOID:0080347
blepharocheilodontic syndrome 2,DOID:0080346
essential tremor 5,DOID:0111432
optic atrophy 3,DOID:0111433
essential tremor 4,DOID:0111431
optic atrophy 11,DOID:0111436
optic atrophy 7,DOID:0111437
optic atrophy 10,DOID:0111434
optic atrophy 6,DOID:0111435
optic atrophy 5,DOID:0111438
trypanosomiasis,DOID:10113
sleeping sickness,DOID:10112
hiatus hernia,DOID:12642
skin disease,DOID:37
disseminated intravascular coagulation,DOID:11247
vitamin K deficiency bleeding,DOID:11249
autosomal recessive nonsyndromic deafness 21,DOID:0110479
dentatorubral-pallidoluysian atrophy,DOID:0060162
Kennedy's disease,DOID:0060161
autosomal recessive nonsyndromic deafness 16,DOID:0110471
autosomal recessive nonsyndromic deafness 15,DOID:0110470
autosomal recessive nonsyndromic deafness 18A,DOID:0110473
Cor pulmonale,DOID:8515
hypoactive sexual desire disorder,DOID:13868
autosomal recessive nonsyndromic deafness 1B,DOID:0110476
fibrodysplasia ossificans progressiva,DOID:13374
complement component 9 deficiency,DOID:0060303
type II complement component 8 deficiency,DOID:0060302
type I complement component 8 deficiency,DOID:0060301
complement component 7 deficiency,DOID:0060300
autosomal dominant intellectual developmental disorder,DOID:0060307
Meier-Gorlin syndrome,DOID:0060306
megalocornea,DOID:0060305
dyschromatosis universalis hereditaria,DOID:0060304
syndromic X-linked intellectual disability,DOID:0060309
autosomal recessive intellectual developmental disorder,DOID:0060308
mitochondrial complex III deficiency nuclear type 5,DOID:0080114
congenital disorder of glycosylation type IIp,DOID:0070268
mitochondrial complex III deficiency nuclear type 6,DOID:0080115
kidney failure,DOID:1074
primary open angle glaucoma,DOID:1070
renal hypertension,DOID:1073
congenital mesoblastic nephroma,DOID:4773
rapidly progressive glomerulonephritis,DOID:4776
proliferative glomerulonephritis,DOID:4778
head and neck cancer,DOID:11934
pheochromocytoma,DOID:0050771
polycystic liver disease,DOID:0050770
paraganglioma,DOID:0050773
spastic ataxia 1,DOID:0050772
schneckenbecken dysplasia,DOID:0050775
rapadilino syndrome,DOID:0050774
Joubert syndrome,DOID:0050777
hydrolethalus syndrome,DOID:0050779
Meckel syndrome,DOID:0050778
autoimmune gastritis,DOID:0040090
uveal cancer,DOID:3479
esophagus squamous cell carcinoma,DOID:3748
hypermethioninemia,DOID:0050544
porphyria,DOID:13268
hereditary coproporphyria,DOID:13269
supravalvular aortic stenosis,DOID:1929
Williams-Beuren syndrome,DOID:1928
sphingolipidosis,DOID:1927
Gaucher's disease,DOID:1926
Coffin-Siris syndrome,DOID:1925
hypogonadism,DOID:1924
disorder of sexual development,DOID:1923
Klinefelter syndrome,DOID:1921
hyperuricemia,DOID:1920
visceral heterotaxy,DOID:0050545
meningioma,DOID:3565
vaccinia,DOID:3298
autoimmune lymphoproliferative syndrome type 2B,DOID:0110116
autoimmune lymphoproliferative syndrome type 4,DOID:0110117
atrial heart septal defect 9,DOID:0110114
autoimmune lymphoproliferative syndrome type 2A,DOID:0110115
atrial heart septal defect 7,DOID:0110112
atrial heart septal defect 8,DOID:0110113
atrial heart septal defect 5,DOID:0110110
atrial heart septal defect 6,DOID:0110111
Leber congenital amaurosis 16,DOID:0110118
autoimmune lymphoproliferative syndrome type 3,DOID:0110119
fatal infantile hypertonic myofibrillar myopathy,DOID:0080309
distal arthrogryposis type 2A,DOID:0111605
Freeman-Sheldon syndrome,DOID:0111604
distal arthrogryposis type 3,DOID:0111607
distal arthrogryposis type 2B2,DOID:0111601
hereditary spherocytosis type 3,DOID:0110918
distal arthrogryposis type 7,DOID:0111603
distal arthrogryposis type 2B3,DOID:0111602
hereditary spherocytosis type 4,DOID:0110919
distal arthrogryposis type 5,DOID:0111608
mitochondrial DNA depletion syndrome 6,DOID:0080125
mitochondrial DNA depletion syndrome 5,DOID:0080124
mitochondrial DNA depletion syndrome 8a,DOID:0080127
mitochondrial DNA depletion syndrome 7,DOID:0080126
mitochondrial DNA depletion syndrome 3,DOID:0080121
mitochondrial DNA depletion syndrome 2,DOID:0080120
mitochondrial DNA depletion syndrome 4b,DOID:0080123
Alpers-Huttenlocher syndrome,DOID:0080122
myofibrillar myopathy 8,DOID:0080308
mitochondrial DNA depletion syndrome 11,DOID:0080129
mitochondrial DNA depletion syndrome 9,DOID:0080128
perinatal necrotizing enterocolitis,DOID:8677
eating disorder,DOID:8670
nasal cavity disease,DOID:2163
thrombophlebitis,DOID:3875
purine-pyrimidine metabolic disorder,DOID:653
age related macular degeneration,DOID:10871
Raynaud disease,DOID:10300
Kuhnt-Junius degeneration,DOID:10873
adenoma,DOID:657
adrenal adenoma,DOID:656
inherited metabolic disorder,DOID:655
overnutrition,DOID:654
myofibrillar myopathy,DOID:0080307
congestive heart failure,DOID:6000
esophageal varix,DOID:112
arthropathy,DOID:381
heart disease,DOID:114
Wolff-Parkinson-White syndrome,DOID:384
heart cancer,DOID:117
epithelial and subepithelial dystrophy,DOID:0060440
epithelial-stromal TGFBI dystrophy,DOID:0060441
stromal dystrophy,DOID:0060442
corneal endothelial dystrophy,DOID:0060443
granular corneal dystrophy 2,DOID:0060444
congenital stromal corneal dystrophy,DOID:0060445
epithelial basement membrane dystrophy,DOID:0060447
Fleck corneal dystrophy,DOID:0060448
gelatinous drop-like corneal dystrophy,DOID:0060449
root resorption,DOID:14550
primary pulmonary hypertension,DOID:14557
congenital disorder of glycosylation type IIl,DOID:0070264
shipyard eye,DOID:13014
Plica syndrome,DOID:12225
Pallister-Hall syndrome,DOID:9248
cerebral amyloid angiopathy,DOID:9246
Alagille syndrome,DOID:9245
erythromelalgia,DOID:9240
lymphoma,DOID:0060058
pancreatic gastrinoma,DOID:5580
hereditary spastic paraplegia 28,DOID:0110779
fibrillary astrocytoma,DOID:6726
alcoholic pancreatitis,DOID:4988
echolalia,DOID:4188
mutism,DOID:4189
choledochal cyst,DOID:899
autosomal dominant polycystic kidney disease,DOID:898
pseudopseudohypoparathyroidism,DOID:4183
metal metabolism disorder,DOID:896
articulation disorder,DOID:4186
mitochondrial encephalomyopathy,DOID:890
pseudohypoparathyroidism,DOID:4184
Frasier syndrome,DOID:0050438
Usher syndrome,DOID:0050439
fatal familial insomnia,DOID:0050433
multiple endocrine neoplasia type 2A,DOID:0050430
arrhythmogenic right ventricular cardiomyopathy,DOID:0050431
mulibrey nanism,DOID:0050436
Danon disease,DOID:0050437
Andersen-Tawil syndrome,DOID:0050434
multiple sclerosis,DOID:2377
relapsing-remitting multiple sclerosis,DOID:2378
smooth muscle cancer,DOID:4230
histiocytoma,DOID:4231
extraosseous Ewing sarcoma,DOID:4232
clear cell sarcoma,DOID:4233
spindle cell sarcoma,DOID:4235
carcinosarcoma,DOID:4236
alveolar soft part sarcoma,DOID:4239
inflammatory myofibroblastic tumor,DOID:0050905
classic galactosemia,DOID:0111459
progressive myoclonus epilepsy 9,DOID:0111450
progressive myoclonus epilepsy 8,DOID:0111451
progressive myoclonus epilepsy 1A,DOID:0111452
2-aminoadipic 2-oxoadipic aciduria,DOID:0111453
SHORT syndrome,DOID:0111454
GRACILE syndrome,DOID:0111455
Kaufman oculocerebrofacial syndrome,DOID:0111456
STING-associated vasculopathy with onset in infancy,DOID:0111457
inverted papilloma,DOID:3179
urinary system disease,DOID:18
integumentary system disease,DOID:16
musculoskeletal system disease,DOID:17
reproductive system disease,DOID:15
autosomal dominant intellectual developmental disorder 44,DOID:0070074
autosomal dominant intellectual developmental disorder 40,DOID:0070070
autosomal dominant intellectual developmental disorder 41,DOID:0070071
autosomal dominant intellectual developmental disorder 42,DOID:0070072
autosomal dominant intellectual developmental disorder 43,DOID:0070073
peripheral nervous system disease,DOID:574
mucopolysaccharidosis II,DOID:12799
mucopolysaccharidosis,DOID:12798
Burkitt lymphoma,DOID:8584
gastric cardia adenocarcinoma,DOID:6271
autosomal recessive nonsyndromic deafness 39,DOID:0110497
autosomal recessive nonsyndromic deafness 37,DOID:0110495
autosomal recessive nonsyndromic deafness 36,DOID:0110494
autosomal recessive nonsyndromic deafness 35,DOID:0110493
autosomal recessive nonsyndromic deafness 33,DOID:0110492
autosomal recessive nonsyndromic deafness 32,DOID:0110491
reticulosarcoma,DOID:8538
herpes zoster,DOID:8536
gastroesophageal reflux disease,DOID:8534
autosomal recessive nonsyndromic deafness 4,DOID:0110498
chordoma,DOID:3302
autosomal dominant intellectual developmental disorder 56,DOID:0080226
lattice corneal dystrophy,DOID:8943
mixed germ cell cancer,DOID:3306
ectopic pregnancy,DOID:0060329
anal fistula,DOID:0060328
umbilical hernia,DOID:0060321
inguinal hernia,DOID:0060320
mastoiditis,DOID:0060322
dental abscess,DOID:0060324
omphalocele,DOID:0060327
myelomeningocele,DOID:0060326
autosomal dominant intellectual developmental disorder 55,DOID:0080227
autosomal dominant dystrophic epidermolysis bullosa,DOID:0080224
seborrheic keratosis,DOID:6498
extraskeletal myxoid chondrosarcoma,DOID:4549
peritoneum cancer,DOID:1725
duodenal ulcer,DOID:1724
retinal vein occlusion,DOID:1727
eunuchism,DOID:5003
retinal vascular occlusion,DOID:1729
intellectual disability,DOID:1059
endodermal sinus tumor,DOID:1911
multiple system atrophy,DOID:4752
striatonigral degeneration,DOID:4751
gastroparesis,DOID:11914
encephalitis,DOID:9588
diabetic retinopathy,DOID:8947
sarcoma,DOID:1115
pseudohermaphroditism,DOID:3765
Denys-Drash syndrome,DOID:3764
hermaphroditism,DOID:3763
cytochrome-c oxidase deficiency disease,DOID:3762
proliferative diabetic retinopathy,DOID:13207
cholecystitis,DOID:1949
right bundle branch block,DOID:13209
hypotrichosis,DOID:4535
vitreous detachment,DOID:9726
cranial nerve palsy,DOID:3817
"multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly",DOID:0080327
X-linked Emery-Dreifuss muscular dystrophy 1,DOID:0070246
primary coenzyme Q10 deficiency 8,DOID:0070245
ovarian dysgenesis 4,DOID:0080496
primary coenzyme Q10 deficiency 6,DOID:0070243
mucolipidosis type IV,DOID:0080490
ovarian dysgenesis 1,DOID:0080493
primary coenzyme Q10 deficiency 3,DOID:0070240
ovarian dysgenesis 7,DOID:0080499
ovarian dysgenesis 6,DOID:0080498
cold-induced sweating syndrome 1,DOID:0080329
autosomal recessive Emery-Dreifuss muscular dystrophy 3,DOID:0070248
choroid disease,DOID:1417
spinal canal and spinal cord meningioma,DOID:1140
exotropia,DOID:1143
ovarian dysfunction,DOID:1414
hypokalemia,DOID:4500
ectodermal dysplasia 14,DOID:0111662
ectodermal dysplasia 7,DOID:0111660
enterokinase deficiency,DOID:0111667
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome,DOID:0111666
ectodermal dysplasia 1,DOID:0111664
hyaline fibromatosis syndrome,DOID:0111669
Kohlschutter-Tonz syndrome,DOID:0111668
SAPHO syndrome,DOID:13677
mosaic variegated aneuploidy syndrome 1,DOID:0080141
multiple congenital anomalies-hypotonia-seizures syndrome 3,DOID:0080140
childhood B-cell acute lymphoblastic leukemia,DOID:0080146
childhood acute lymphocytic leukemia,DOID:0080144
retinitis pigmentosa 1,DOID:0110390
retinitis pigmentosa 31,DOID:0110391
retinitis pigmentosa 70,DOID:0110392
retinitis pigmentosa 66,DOID:0110393
retinitis pigmentosa 44,DOID:0110394
retinitis pigmentosa 72,DOID:0110395
retinitis pigmentosa 50,DOID:0110396
retinitis pigmentosa 27,DOID:0110397
angiodysplasia,DOID:2494
congenital nervous system abnormality,DOID:2490
aortic disease,DOID:520
autosomal dominant nonsyndromic deafness 2B,DOID:0110559
Kleine-Levin syndrome,DOID:0060165
Brugada syndrome 7,DOID:0110224
Brugada syndrome 8,DOID:0110225
adrenocortical carcinoma,DOID:3948
Brugada syndrome 9,DOID:0110226
Usher syndrome type 2C,DOID:0110839
Brugada syndrome 3,DOID:0110220
Brugada syndrome 4,DOID:0110221
papillary renal cell carcinoma,DOID:4465
autosomal recessive nonsyndromic deafness 97,DOID:0110539
neovascular glaucoma,DOID:1687
autosomal recessive nonsyndromic deafness 89,DOID:0110534
autosomal recessive nonsyndromic deafness 9,DOID:0110535
autosomal recessive nonsyndromic deafness 91,DOID:0110536
autosomal recessive nonsyndromic deafness 93,DOID:0110537
autosomal recessive nonsyndromic deafness 84B,DOID:0110530
autosomal recessive nonsyndromic deafness 86,DOID:0110532
autosomal recessive nonsyndromic deafness 88,DOID:0110533
basal ganglia disease,DOID:679
progressive supranuclear palsy,DOID:678
cleft palate,DOID:674
juvenile rheumatoid arthritis,DOID:676
silicosis,DOID:10325
heart septal defect,DOID:1681
spasmodic dystonia,DOID:0050844
hypercalcemia,DOID:12678
nephrocalcinosis,DOID:12679
selective immunoglobulin deficiency disease,DOID:6025
selective IgE deficiency disease,DOID:6024
angioedema,DOID:1558
spinal cancer,DOID:5612
vibratory urticaria,DOID:1554
beta thalassemia,DOID:12241
histidine metabolism disease,DOID:9265
cystinuria,DOID:9266
urea cycle disorder,DOID:9267
nasopharynx carcinoma,DOID:9261
homocystinuria,DOID:9263
glycine encephalopathy,DOID:9268
maple syrup urine disease,DOID:9269
Holt-Oram syndrome,DOID:0060468
Miller-Dieker lissencephaly syndrome,DOID:0060469
gingival fibromatosis,DOID:0060466
humeroradial synostosis,DOID:0060467
Feingold syndrome,DOID:0060464
fibrochondrogenesis,DOID:0060465
Desbuquois dysplasia,DOID:0060462
NUT midline carcinoma,DOID:0060463
non-alcoholic steatohepatitis,
non-alcoholic fatty liver,DOID:0080546
hyper IgM syndrome,DOID:0080544
hyperprolinemia type 2,DOID:0080543
hyperprolinemia type 1,DOID:0080542
galactosialidosis,DOID:0080540
alopecia universalis,DOID:0050634
alternating hemiplegia of childhood,DOID:0050635
familial visceral amyloidosis,DOID:0050636
Finnish type amyloidosis,DOID:0050637
Aland Island eye disease,DOID:0050630
Allan-Herndon-Dudley syndrome,DOID:0050631
oculocutaneous albinism,DOID:0050632
ocular albinism,
exfoliation syndrome,DOID:13641
transthyretin amyloidosis,DOID:0050638
primary cutaneous amyloidosis,DOID:0050639
mastitis,DOID:10690
progressive familial intrahepatic cholestasis 5,DOID:0070225
neuropathy,DOID:870
bacterial pneumonia,DOID:874
familial hypertrophic cardiomyopathy,DOID:0080326
Gitelman syndrome,DOID:0050450
Brugada syndrome,DOID:0050451
mevalonic aciduria,DOID:0050452
lissencephaly,DOID:0050453
periventricular nodular heterotopia,DOID:0050454
spinocerebellar ataxia type 38,DOID:0050985
juvenile myelomonocytic leukemia,DOID:0050458
hyperphosphatemia,DOID:0050459
episodic ataxia type 1,DOID:0050989
tuberous sclerosis 2,DOID:0080325
nose disease,DOID:2825
Caffey disease,DOID:4257
osteosclerosis,DOID:4254
Alexander disease,DOID:4252
melorheostosis,DOID:4253
Weissenbacher-Zweymuller syndrome,DOID:4258
combined oxidative phosphorylation deficiency 19,DOID:0111476
combined oxidative phosphorylation deficiency 14,DOID:0111477
combined oxidative phosphorylation deficiency 1,DOID:0111474
combined oxidative phosphorylation deficiency 39,DOID:0111475
combined oxidative phosphorylation deficiency 9,DOID:0111472
combined oxidative phosphorylation deficiency 5,DOID:0111473
combined oxidative phosphorylation deficiency 28,DOID:0111470
combined oxidative phosphorylation deficiency 30,DOID:0111471
combined oxidative phosphorylation deficiency 20,DOID:0111478
combined oxidative phosphorylation deficiency 8,DOID:0111479
skin squamous cell carcinoma,DOID:3151
portal vein thrombosis,DOID:11695
photosensitivity disease,DOID:3159
Sly syndrome,DOID:12803
mucopolysaccharidosis I,DOID:12802
mucopolysaccharidosis III,DOID:12801
mucopolysaccharidosis VI,DOID:12800
hematopoietic system disease,DOID:74
lymphatic system disease,DOID:75
stomach disease,DOID:76
mucopolysaccharidosis IV,DOID:12804
Helsmoortel-Van Der Aa Syndrome,DOID:0070058
autosomal dominant intellectual developmental disorder 29,DOID:0070059
arcus senilis,DOID:11342
autosomal dominant intellectual developmental disorder 22,DOID:0070052
autosomal dominant intellectual developmental disorder 23,DOID:0070053
"neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",DOID:0070050
autosomal dominant intellectual developmental disorder 21,DOID:0070051
autosomal dominant intellectual developmental disorder 26,DOID:0070056
Coffin-Siris syndrome 9,DOID:0070057
Vulto-van Silfout-de Vries syndrome,DOID:0070054
Xia-Gibbs Syndrome,DOID:0070055
hypotrichosis 8,DOID:0110705
hypotrichosis 7,DOID:0110704
hypotrichosis 6,DOID:0110703
hypotrichosis 5,DOID:0110702
hypotrichosis 4,DOID:0110701
hypotrichosis 3,DOID:0110700
hypotrichosis 12,DOID:0110709
hypotrichosis 11,DOID:0110708
T cell deficiency,DOID:11200
parathyroid gland disease,DOID:11201
primary hyperparathyroidism,DOID:11202
opioid abuse,DOID:11206
connective tissue benign neoplasm,DOID:0060123
integumentary system cancer,DOID:0060122
integumentary system benign neoplasm,DOID:0060121
heavy chain disease,DOID:0060125
chorioretinitis,DOID:8886
oropharynx cancer,DOID:8557
pyoderma gangrenosum,DOID:8553
chronic myeloid leukemia,DOID:8552
developmental and epileptic encephalopathy 61,DOID:0080434
platelet-type bleeding disorder 16,DOID:0060691
autosomal dominant auditory neuropathy 1,DOID:0060690
Brunner Syndrome,DOID:0060693
platelet-type bleeding disorder 8,DOID:0060692
hyperekplexia,DOID:0060695
Cayman type cerebellar ataxia,DOID:0060694
hyperekplexia 2,DOID:0060697
hyperekplexia 1,DOID:0060696
familial hypocalciuric hypercalcemia,DOID:0060699
hyperekplexia 3,DOID:0060698
ichthyosis vulgaris,DOID:1702
steroid inherited metabolic disorder,DOID:1701
X-linked ichthyosis,DOID:1700
botulism,DOID:11976
coloboma of optic nerve,DOID:11975
synostosis,DOID:11971
isolated microphthalmia 4,DOID:0060836
celiac disease,DOID:10608
nodular goiter,DOID:13197
nontoxic goiter,DOID:13195
endemic goiter,DOID:13198
velocardiofacial syndrome,DOID:12583
Cri-Du-Chat syndrome,DOID:12580
calciphylaxis,DOID:4734
somatoform disorder,DOID:4737
kidney clear cell sarcoma,DOID:4880
vasomotor rhinitis,DOID:4730
obstructive sleep apnea,DOID:0050848
sleep apnea,DOID:0050847
oromandibular dystonia,DOID:0050843
focal hand dystonia,DOID:0050841
cervical dystonia,DOID:0050840
cerebral palsy,DOID:1969
uterine fibroid,DOID:13223
leiomyosarcoma,DOID:1967
fallopian tube cancer,DOID:1964
cryptococcosis,DOID:12053
tricuspid valve insufficiency,DOID:4080
mucopolysaccharidosis type IIIC,DOID:0111393
mucopolysaccharidosis type IVB,DOID:0111392
mucopolysaccharidosis IVA,DOID:0111391
mucopolysaccharidosis Ih,DOID:0111390
congenital disorder of glycosylation type IIq,DOID:0070269
mucopolysaccharidosis type IIIA,DOID:0111395
mucopolysaccharidosis type IIIB,DOID:0111394
congenital disorder of glycosylation type IIo,DOID:0070267
atypical hemolytic-uremic syndrome,DOID:0080301
mixed sleep apnea,DOID:0080302
Bamforth-Lazarus syndrome,DOID:0050655
lymphoplasmacytic lymphoma,DOID:0050747
lymphoplasmacytic lymphoma,DOID:0060901
Parkinson's disease 14,DOID:0060900
thrombosis,DOID:0060903
Norman-Roberts syndrome,DOID:0060902
legume allergy,DOID:0060904
pilocytic astrocytoma,DOID:4851
mixed connective tissue disease,DOID:3492
tricuspid atresia,DOID:0080169
Miyoshi muscular dystrophy 1,DOID:0070199
Miyoshi muscular dystrophy,DOID:0070198
autosomal recessive chronic granulomatous disease 1,DOID:0070192
otulipenia,DOID:0080163
distal myopathy 1,DOID:0070197
X-linked chronic granulomatous disease,DOID:0070195
autosomal recessive chronic granulomatous disease 3,DOID:0070194
otitis media,DOID:10754
systemic primary carnitine deficiency disease,DOID:14365
developmental and epileptic encephalopathy 19,DOID:0080431
papilloma,DOID:2615
retinal disease,DOID:5679
"ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",DOID:0111649
ectopia lentis with ectopia of pupil,DOID:0111648
pleural disease,DOID:1532
mitochondrial complex III deficiency,DOID:0111139
congenital generalized lipodystrophy type 4,DOID:0111138
autosomal recessive nonsyndromic deafness 94,DOID:0111641
congenital generalized lipodystrophy type 2,DOID:0111136
congenital generalized lipodystrophy type 1,DOID:0111135
autosomal recessive nonsyndromic deafness 114,DOID:0111642
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,DOID:0111645
autosomal recessive nonsyndromic deafness 110,DOID:0111644
Schopf-Schulz-Passarge syndrome,DOID:0111647
congenital lactase deficiency,DOID:0111646
autosomal recessive nonsyndromic deafness 67,DOID:0110518
autosomal recessive nonsyndromic deafness 68,DOID:0110519
diabetes mellitus,DOID:9351
autosomal recessive nonsyndromic deafness 6,DOID:0110512
autosomal recessive nonsyndromic deafness 61,DOID:0110513
autosomal recessive nonsyndromic deafness 59,DOID:0110511
autosomal recessive nonsyndromic deafness 66,DOID:0110517
autosomal recessive nonsyndromic deafness 63,DOID:0110515
blepharophimosis,DOID:10348
leukopenia,DOID:615
lymphopenia,DOID:614
primary immunodeficiency disease,DOID:612
cerebral primitive neuroectodermal tumor,DOID:7398
trochlear nerve disease,DOID:13864
pain disorder,DOID:0060164
isolated growth hormone deficiency type III,DOID:0060875
isolated growth hormone deficiency type IB,DOID:0060874
Roberts syndrome,DOID:5325
childhood spinal muscular atrophy,DOID:0060160
bullous congenital ichthyosiform erythroderma,DOID:0060877
age related macular degeneration 11,DOID:0110023
isolated growth hormone deficiency type IA,DOID:0060873
autosomal recessive nonsyndromic deafness 1A,DOID:0110475
isolated growth hormone deficiency type II,DOID:0060872
autosomal recessive nonsyndromic deafness 18B,DOID:0110474
autosomal recessive nonsyndromic deafness 2,DOID:0110477
X-linked hyper IgM syndrome,DOID:6620
spastic monoplegia,DOID:10968
hemiplegia,DOID:10969
parasitic infectious disease,DOID:1398
lipoid nephrosis,DOID:10966
spastic diplegia,DOID:10965
WAGR syndrome,DOID:14515
pancreatic adenosquamous carcinoma,DOID:5637
alcohol use disorder,DOID:1574
respiratory system disease,DOID:1579
dacryocystitis,DOID:9938
EAST syndrome,DOID:0060484
Mowat-Wilson syndrome,DOID:0060485
Perry syndrome,DOID:0060486
left ventricular noncompaction,DOID:0060480
Goldberg-Shprintzen syndrome,DOID:0060481
oculoauricular syndrome,DOID:0060482
MEDNIK syndrome,DOID:0060483
Pitt-Hopkins syndrome,DOID:0060488
oral cavity carcinoma in situ,DOID:0050610
respiratory system cancer,DOID:0050615
paranasal sinus cancer,DOID:0050619
choroideremia,DOID:9821
spermatogenic failure 5,DOID:0070183
holocarboxylase synthetase deficiency,DOID:859
lung disease,DOID:850
collagen disease,DOID:854
multiple carboxylase deficiency,DOID:857
biotinidase deficiency,DOID:856
Barth syndrome,DOID:0050476
Liddle syndrome,DOID:0050477
Netherton syndrome,DOID:0050474
Weill-Marchesani syndrome,DOID:0050475
monilethrix,DOID:0050472
Alstrom syndrome,DOID:0050473
Donohue syndrome,DOID:0050470
Carney complex,DOID:0050471
X-linked spermatogenic failure 2,DOID:0070185
hereditary lymphedema IC,DOID:0070208
congenital hemolytic anemia,DOID:589
nephrolithiasis,DOID:585
uric acid nephrolithiasis,DOID:580
familial adenomatous polyposis 1,DOID:0080409
porphyria cutanea tarda,DOID:3132
acute porphyria,DOID:3133
acanthosis nigricans,DOID:3138
melancholia,DOID:2848
listeriosis,DOID:11573
bruxism,DOID:2846
asthma,DOID:2841
long QT syndrome,DOID:2843
Jervell-Lange Nielsen syndrome,DOID:2842
congenital aphakia,DOID:11367
lens subluxation,DOID:11364
autosomal dominant intellectual developmental disorder 1,DOID:0070031
neuronal ceroid lipofuscinosis 5,DOID:0110728
autosomal dominant intellectual developmental disorder 6,DOID:0070036
autosomal dominant intellectual developmental disorder 7,DOID:0070037
autosomal dominant intellectual developmental disorder 8,DOID:0070038
NESCAV syndrome,DOID:0070039
neuronal ceroid lipofuscinosis 1,DOID:0110721
neuronal ceroid lipofuscinosis 4,DOID:0110720
neuronal ceroid lipofuscinosis 8,DOID:0110723
neuronal ceroid lipofuscinosis 7,DOID:0110722
neurofibromatosis,DOID:8712
in situ carcinoma,DOID:8719
musculoskeletal system cancer,DOID:0060100
central nervous system embryonal tumor,DOID:0060103
tyrosinemia type II,DOID:0050725
brain glioma,DOID:0060108
ulcerative colitis,DOID:8577
pituitary gland disease,DOID:53
thyroid gland disease,DOID:50
aortic valve insufficiency,DOID:57
reading disorder,DOID:13365
Stiff-Person syndrome,DOID:13366
prostate cancer,DOID:10283
prostate carcinoma,DOID:10286
complex cortical dysplasia with other brain malformations 2,DOID:0090133
complex cortical dysplasia with other brain malformations 7,DOID:0090132
cortical dysplasia-focal epilepsy syndrome,DOID:0090130
complex cortical dysplasia with other brain malformations 1,DOID:0090137
complex cortical dysplasia with other brain malformations 6,DOID:0090136
complex cortical dysplasia with other brain malformations 5,DOID:0090135
complex cortical dysplasia with other brain malformations 3,DOID:0090134
cortisone reductase deficiency,DOID:0090139
complex cortical dysplasia with other brain malformations 4,DOID:0090138
pyrimidine metabolic disorder,DOID:0050832
cheilitis,DOID:1762
fusariosis,DOID:0050289
mononeuropathy,DOID:1188
nephrotic syndrome,DOID:1184
salivary gland adenoid cystic carcinoma,DOID:4866
branchiootorenal syndrome,DOID:14702
propionic acidemia,DOID:14701
Pfeiffer syndrome,DOID:14705
plasmacytoma,DOID:3721
extramedullary plasmacytoma,DOID:3720
colorectal adenocarcinoma,DOID:0050861
colorectal adenoma,DOID:0050860
hepatocellular adenoma,DOID:0050868
rectal benign neoplasm,DOID:1984
Paget's disease of bone,DOID:5408
REM sleep behavior disorder,DOID:9091
sebaceous gland disease,DOID:9098
male reproductive organ cancer,DOID:3856
hemangiopericytic tumor,DOID:3850
Peutz-Jeghers syndrome,DOID:3852
familial partial lipodystrophy type 5,DOID:0070203
X-linked spondyloepiphyseal dysplasia tarda,DOID:0080362
Miyoshi muscular dystrophy 3,DOID:0070201
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4,
desmoid tumor,DOID:0080366
endometrial hyperplasia,DOID:0080365
malignant adenoma,DOID:0080364
primary ciliary dyskinesia 6,DOID:0110606
primary ciliary dyskinesia 28,DOID:0110607
primary ciliary dyskinesia 18,DOID:0110604
primary ciliary dyskinesia 7,DOID:0110605
primary ciliary dyskinesia 11,DOID:0110602
primary ciliary dyskinesia 32,DOID:0110603
primary ciliary dyskinesia 29,DOID:0110600
primary ciliary dyskinesia 12,DOID:0110601
chronic neutrophilic leukemia,DOID:0080187
PHARC syndrome,DOID:0080181
chronic myelomonocytic leukemia,DOID:0080188
thrombophilia,DOID:2452
central retinal vein occlusion,DOID:2450
protein S deficiency,DOID:2451
IgA glomerulonephritis,DOID:2986
familial Mediterranean fever,DOID:2987
antiphospholipid syndrome,DOID:2988
thrombotic thrombocytopenic purpura,DOID:10772
melanotic medulloblastoma,DOID:3868
Beukes hip dysplasia,DOID:0111367
amelogenesis imperfecta,DOID:2187
transitional cell carcinoma,DOID:2671
protoplasmic astrocytoma,DOID:7008
childhood cerebral astrocytoma,DOID:7007
ACTH-secreting pituitary adenoma,DOID:7004
gemistocytic astrocytoma,DOID:7005
nephronophthisis 4,DOID:0111115
nephronophthisis 3,DOID:0111114
nephronophthisis-like nephropathy 1,DOID:0111117
nephronophthisis 7,DOID:0111116
maturity-onset diabetes of the young type 14,DOID:0111111
maturity-onset diabetes of the young type 13,DOID:0111110
nephronophthisis 2,DOID:0111113
nephronophthisis 12,DOID:0111119
nephronophthisis 11,DOID:0111118
autosomal dominant nonsyndromic deafness 48,DOID:0110571
autosomal dominant nonsyndromic deafness 4A,DOID:0110573
autosomal dominant nonsyndromic deafness 4B,DOID:0110574
autosomal dominant nonsyndromic deafness 5,DOID:0110575
acquired immunodeficiency syndrome,DOID:635
central pontine myelinolysis,DOID:636
fibromyalgia,DOID:631
genetic disease,DOID:630
myositis,DOID:633
acute disseminated encephalomyelitis,DOID:639
cataract 1 multiple types,DOID:0110231
fundus albipunctatus,DOID:11105
vulva carcinoma,DOID:1294
hypertrophic pyloric stenosis,DOID:12638
pyloric stenosis,DOID:12639
Ebstein anomaly,DOID:14289
neurogenic arthropathy,DOID:14286
primary hypertrophic osteoarthropathy,DOID:14283
interstitial cystitis,DOID:13949
bladder neck obstruction,DOID:13948
chronic lymphocytic leukemia/small lymphocytic lymphoma,DOID:6354
benign paroxysmal positional vertigo,DOID:13941
CADASIL,DOID:13945
endometrial stromal nodule,DOID:1373
tongue disease,DOID:10944
intracranial aneurysm,DOID:10941
maxillary sinus squamous cell carcinoma,DOID:7910
autosomal recessive congenital ichthyosis 5,DOID:0060714
autosomal recessive congenital ichthyosis 6,DOID:0060715
autosomal recessive congenital ichthyosis 8,DOID:0060717
autosomal recessive congenital ichthyosis 2,DOID:0060710
autosomal recessive congenital ichthyosis 3,DOID:0060711
autosomal recessive congenital ichthyosis 4A,DOID:0060712
autosomal recessive congenital ichthyosis 4B,DOID:0060713
autosomal recessive congenital ichthyosis 9,DOID:0060718
autosomal recessive congenital ichthyosis 10,DOID:0060719
Joubert syndrome 27,DOID:0110996
Joubert syndrome 25,DOID:0110994
Joubert syndrome 26,DOID:0110995
Joubert syndrome 21,DOID:0110990
Joubert syndrome 22,DOID:0110991
nominal aphasia,DOID:4541
cecal disease,DOID:1518
dyslexia,DOID:4428
periostitis,DOID:9957
hypoplastic left heart syndrome,DOID:9955
acute lymphoblastic leukemia,DOID:9952
acute biphenotypic leukemia,DOID:9953
sporadic breast cancer,DOID:8029
Blau syndrome,DOID:0050678
blue cone monochromacy,DOID:0050679
female breast cancer,DOID:0050671
congenital bile acid synthesis defect,DOID:0050674
Birk-Barel syndrome,DOID:0050675
Birt-Hogg-Dube syndrome,DOID:0050676
Bjornstad syndrome,DOID:0050677
cranial nerve disease,DOID:5656
apocrine sweat gland neoplasm,DOID:5876
essential tremor,DOID:4990
exophthalmos,
auditory system cancer,DOID:833
scimitar syndrome,DOID:4297
eye disease,DOID:5614
penis carcinoma,DOID:3449
hepatobiliary disease,DOID:3118
gastrointestinal system cancer,DOID:3119
serous cystadenocarcinoma,DOID:3114
mammary Paget's disease,DOID:3443
kidney benign neoplasm,DOID:3116
hepatobiliary benign neoplasm,DOID:3117
glucosephosphate dehydrogenase deficiency,DOID:2862
congenital nonspherocytic hemolytic anemia,DOID:2861
hemoglobinopathy,DOID:2860
congenital vertical talus,DOID:0111568
autosomal dominant vitreoretinochoroidopathy,DOID:0111569
hypoplastic or aplastic tibia with polydactyly,DOID:0111564
trichodontoosseous syndrome,DOID:0111565
familial isolated trichomegaly,DOID:0111566
retinal vasculopathy with cerebral leukodystrophy,DOID:0111567
Charcot-Marie-Tooth disease type 1G,DOID:0111560
stiff skin syndrome,DOID:0111561
overhydrated hereditary stomatocytosis,DOID:0111562
Sturge-Weber syndrome,DOID:0111563
cryptorchidism,DOID:11383
corneal neovascularization,DOID:11382
autosomal dominant dyskeratosis congenita 3,DOID:0070018
autosomal recessive dyskeratosis congenita 3,DOID:0070019
autosomal dominant dyskeratosis congenita 2,DOID:0070016
autosomal recessive dyskeratosis congenita 2,DOID:0070017
autosomal recessive dyskeratosis congenita 1,DOID:0070015
Seckel syndrome 5,DOID:0070012
Seckel syndrome 2,DOID:0070013
Seckel syndrome 4,DOID:0070010
Seckel syndrome 7,DOID:0070011
anodontia,DOID:13714
type 1 diabetes mellitus 10,DOID:0110749
type 1 diabetes mellitus 2,DOID:0110741
neurodegeneration with brain iron accumulation 6,DOID:0110740
type 1 diabetes mellitus 5,DOID:0110744
chronic monocytic leukemia,DOID:8593
degenerative disc disease,DOID:90
spondylosis,DOID:2247
Balkan nephropathy,DOID:3052
chromosomal deletion syndrome,DOID:0060388
angiomyolipoma,DOID:3314
acrofacial dysostosis Rodriguez type,DOID:0060383
chondrodysplasia Blomstrand type,DOID:0060387
Chilblain lupus,DOID:0060386
varicose veins,DOID:799
transitional meningioma,DOID:7213
meningothelial meningioma,DOID:7212
psammomatous meningioma,DOID:7210
congenital disorder of glycosylation type IIn,DOID:0070266
squamous cell carcinoma,DOID:1749
conjunctival squamous cell carcinoma,DOID:1748
crustacean allergy,DOID:0060524
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,DOID:0090119
congenital amegakaryocytic thrombocytopenia,DOID:0090118
lipoid proteinosis,DOID:14498
Fabry disease,DOID:14499
PCWH syndrome,DOID:0090111
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,DOID:0090110
RIDDLE syndrome,DOID:0090113
spinocerebellar ataxia type 1 with axonal neuropathy,
Wolman disease,DOID:14497
thiamine-responsive megaloblastic anemia syndrome,DOID:0090117
spondylocarpotarsal synostosis syndrome,DOID:0090116
congenital disorder of glycosylation type IIj,DOID:0070262
spinocerebellar ataxia type 2,DOID:0050955
hepatitis A,DOID:12549
dextrocardia,DOID:9565
benign ependymoma,DOID:4844
bronchiectasis,DOID:9563
primary ciliary dyskinesia,DOID:9562
sebaceous carcinoma,DOID:4840
Ehlers-Danlos syndrome classic type 1,DOID:14720
Ehlers-Danlos syndrome spondylodysplastic type 2,DOID:0050802
androgenic alopecia,DOID:0050801
creatine transporter deficiency,
Kahrizi syndrome,DOID:0050807
mucopolysaccharidosis IX,DOID:0050809
conjunctival cancer,DOID:5467
diabetic neuropathy,DOID:9743
biliary tract disease,DOID:9741
trigeminal neuralgia,DOID:12098
hemorrhoid,DOID:9746
type 1 diabetes mellitus,DOID:9744
progressive familial intrahepatic cholestasis,DOID:0070221
familial hyperinsulinemic hypoglycemia 5,DOID:0070220
autosomal recessive pyridoxine-refractory sideroblastic anemia 3,DOID:0080343
Simpson-Golabi-Behmel syndrome type 2,DOID:0080342
blepharocheilodontic syndrome 1,DOID:0080345
progressive familial intrahepatic cholestasis 4,DOID:0070224
intrahepatic cholestasis of pregnancy,DOID:0070227
progressive familial intrahepatic cholestasis 1,DOID:0070226
intrahepatic cholestasis of pregnancy 3,DOID:0070229
intrahepatic cholestasis of pregnancy 1,DOID:0070228
functional gastric disease,DOID:1159
developmental and epileptic encephalopathy 14,DOID:0080439
developmental and epileptic encephalopathy 5,DOID:0080438
chondrocalcinosis,DOID:1156
myelitis,DOID:322
tropical spastic paraparesis,DOID:321
vascular myelopathy,DOID:320
aortic valve disease 2,DOID:0080334
syringomyelia,DOID:327
central nervous system origin vertigo,DOID:2479
opportunistic mycosis,DOID:2473
hereditary spastic paraplegia,DOID:2476
motor peripheral neuropathy,DOID:2477
non-Langerhans-cell histiocytosis,DOID:4330
autosomal dominant nonsyndromic deafness 17,DOID:0110548
congenital myasthenic syndrome,DOID:3635
toxic diffuse goiter,DOID:10719
giardiasis,DOID:10718
adermatoglyphia,DOID:0111357
hydrolethalus syndrome 2,DOID:0111356
hydrolethalus syndrome 1,DOID:0111355
"arthrogryposis, renal dysfunction, and cholestasis 2",DOID:0111354
"arthrogryposis, renal dysfunction, and cholestasis 1",DOID:0111353
D-2-hydroxyglutaric aciduria 2,DOID:0111352
D-2-hydroxyglutaric aciduria 1,DOID:0111351
Laurin-Sandrow syndrome,DOID:0111350
large congenital melanocytic nevus,DOID:0111359
Floating-Harbor syndrome,DOID:0111358
Leber congenital amaurosis 12,DOID:0110080
arrhythmogenic right ventricular dysplasia 10,DOID:0110081
arrhythmogenic right ventricular dysplasia 11,DOID:0110082
arrhythmogenic right ventricular dysplasia 12,DOID:0110083
arrhythmogenic right ventricular dysplasia 13,DOID:0110084
asphyxiating thoracic dystrophy 2,DOID:0110086
asphyxiating thoracic dystrophy 3,DOID:0110087
asphyxiating thoracic dystrophy 4,DOID:0110088
asphyxiating thoracic dystrophy 5,DOID:0110089
cataract 18,DOID:0110238
cataract 42,DOID:0110237
autosomal recessive nonsyndromic deafness 98,DOID:0110540
autosomal dominant nonsyndromic deafness 11,DOID:0110543
autosomal dominant nonsyndromic deafness 10,DOID:0110542
familial adult myoclonic epilepsy,DOID:0111689
Ayme-Gripp syndrome,DOID:0111688
hereditary mixed polyposis syndrome,DOID:0111684
Potocki-Shaffer syndrome,DOID:0111687
hereditary mixed polyposis syndrome 2,DOID:0111686
glutamate-cysteine ligase deficiency,DOID:0111681
essential fructosuria,DOID:0111680
neurofibromatosis-Noonan syndrome,DOID:0111683
autosomal dominant sensory ataxia 1,DOID:0111170
autosomal dominant nonsyndromic deafness 15,DOID:0110546
embryonal carcinoma,DOID:3308
gonadoblastoma,DOID:3301
germinoma,DOID:3304
teratoma,DOID:3307
beta-mannosidosis,DOID:3633
fragile X syndrome,DOID:14261
oral candidiasis,DOID:14262
pulmonary valve insufficiency,DOID:14265
benign neonatal seizures,DOID:14264
sclerosing cholangitis,DOID:14268
hypersplenism,DOID:6376
cataract 6 multiple types,DOID:0110229
autosomal dominant nonsyndromic deafness 2A,DOID:0110558
autosomal dominant nonsyndromic deafness 27,DOID:0110556
autosomal dominant nonsyndromic deafness 28,DOID:0110557
autosomal dominant nonsyndromic deafness 25,DOID:0110555
autosomal dominant nonsyndromic deafness 22,DOID:0110552
autosomal dominant nonsyndromic deafness 23,DOID:0110553
autosomal dominant nonsyndromic deafness 20,DOID:0110550
glaucoma,DOID:1686
congenital heart disease,DOID:1682
sickle cell anemia,DOID:10923
pyelonephritis,DOID:11400
bullous keratopathy,DOID:11031
corneal edema,DOID:11030
junctional epidermolysis bullosa with pyloric atresia,DOID:0060733
torsion dystonia 1,DOID:0060730
congenital central hypoventilation syndrome,DOID:0060731
epidermolysis bullosa simplex Ogna type,DOID:0060736
junctional epidermolysis bullosa Herlitz type,DOID:0060737
epidermolysis bullosa simplex Dowling-Meara type,DOID:0060735
junctional epidermolysis bullosa non-Herlitz type,DOID:0060738
hand-foot-genital syndrome,DOID:0060739
drug dependence,DOID:9974
cocaine dependence,DOID:9975
obesity,DOID:9970
substance dependence,DOID:9973
multiple epiphyseal dysplasia due to collagen 9 anomaly,DOID:0070305
Alzheimer's disease 1,DOID:0080348
paranasal sinus benign neoplasm,DOID:1350
paranasal sinus disease,DOID:1352
sarcomatoid renal cell carcinoma,DOID:4473
pseudo-TORCH syndrome 1,DOID:0050656
Bannayan-Riley-Ruvalcaba syndrome,DOID:0050657
Baller-Gerold syndrome,DOID:0050654
hemophagocytic lymphohistiocytosis,DOID:0050120
familial atrial fibrillation,DOID:0050650
atrioventricular septal defect,DOID:0050651
Bart-Pumphrey syndrome,DOID:0050658
biotin-responsive basal ganglia disease,DOID:0050659
large intestine cancer,DOID:5672
colon cancer,DOID:219
dental caries,DOID:216
teeth hard tissue disease,DOID:214
lipodystrophy,DOID:811
septic arthritis,DOID:813
retinitis pigmentosa 43,DOID:0110379
pseudohypoaldosteronism,DOID:4479
Native American myopathy,DOID:0060346
lung benign neoplasm,DOID:3683
urethral stricture,DOID:1829
epilepsy,DOID:1826
idiopathic generalized epilepsy,DOID:1827
status epilepticus,DOID:1824
childhood absence epilepsy,DOID:1825
spinal muscular atrophy,DOID:12377
juvenile spinal muscular atrophy,DOID:12376
thyroid hormone resistance syndrome,DOID:11633
breast disease,DOID:3463
tubular aggregate myopathy 1,DOID:0080089
nonsyndromic congenital nail disorder 8,DOID:0080086
nonsyndromic congenital nail disorder 4,DOID:0080082
nonsyndromic congenital nail disorder 3,DOID:0080081
ring dermoid of cornea,DOID:0111548
aplasia of lacrimal and salivary glands,DOID:0111549
familial expansile osteolysis,DOID:0111542
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome,DOID:0111543
prolidase deficiency,DOID:0111540
pigmented paravenous chorioretinal atrophy,DOID:0111541
Currarino syndrome,DOID:0111546
retinal arterial tortuosity,DOID:0111547
Guttmacher syndrome,DOID:0111544
familial male-limited precocious puberty,DOID:0111545
epidermodysplasia verruciformis,DOID:13777
Addison's disease,DOID:13774
hereditary spastic paraplegia 10,DOID:0110763
hereditary spastic paraplegia 11,DOID:0110764
hereditary spastic paraplegia 13,DOID:0110766
hereditary spastic paraplegia 15,DOID:0110768
cold-induced sweating syndrome 3,DOID:0080331
staphyloenterotoxemia,DOID:96
essential thrombocythemia,DOID:2224
myeloproliferative neoplasm,DOID:2226
speech disorder,DOID:92
language disorder,DOID:93
platelet storage pool deficiency,DOID:2223
factor X deficiency,DOID:2222
factor XI deficiency,DOID:2229
thrombocytosis,DOID:2228
retinal cell cancer,DOID:771
carcinoma of supraglottis,DOID:7763
Coats disease,DOID:7765
tetralogy of Fallot,DOID:6419
autosomal dominant intellectual developmental disorder 3,DOID:0070033
pleural cancer,DOID:5158
choroid plexus papilloma,DOID:2626
gastrointestinal allergy,DOID:0060502
DiGeorge syndrome,DOID:11198
hypoparathyroidism,DOID:11199
syndactyly,DOID:11193
ureteral obstruction,DOID:5199
dissociated nystagmus,DOID:13174
cannabis abuse,DOID:9505
leukocyte disease,DOID:9500
spermatic cord torsion,DOID:11996
spermatocele,DOID:11997
trichorhinophalangeal syndrome type I,DOID:14743
Sotos syndrome,DOID:14748
methylmalonic acidemia,DOID:14749
gingival hypertrophy,DOID:5338
cyclic hematopoiesis,DOID:5339
spiradenoma,DOID:5444
dental pulp disease,DOID:5330
testicular granulosa cell tumor,DOID:5331
epulis,DOID:5337
autosomal dominant Emery-Dreifuss muscular dystrophy 2,DOID:0070247
cellulitis,DOID:3488
systemic mycosis,DOID:0050136
cutaneous mycosis,DOID:0050134
arterial tortuosity syndrome,DOID:0050645
esophageal atresia,DOID:10485
Hirschsprung's disease,DOID:10487
intestinal atresia,DOID:10486
diaphragm disease,DOID:10481
Arts syndrome,DOID:0050647
imperforate anus,DOID:10488
pericardium disease,DOID:0050829
artery disease,DOID:0050828
corneal deposit,DOID:11547
atrioventricular block,DOID:0050820
sinoatrial node disease,DOID:0050824
rheumatic heart disease,DOID:0050827
tricuspid valve disease,DOID:0050826
granular cell tumor,DOID:2411
primary coenzyme Q10 deficiency 7,DOID:0070244
epidermolysis bullosa acquisita,DOID:4313
smooth muscle tumor,DOID:4310
fetal akinesia deformation sequence syndrome 4,DOID:0111379
fetal akinesia deformation sequence syndrome 2,DOID:0111378
fetal akinesia deformation sequence syndrome,DOID:0111375
selective pituitary thyroid hormone resistance,DOID:0111374
fetal akinesia deformation sequence syndrome 1,DOID:0111377
fetal akinesia deformation sequence syndrome 3,DOID:0111376
isolated hyperchlorhidrosis,DOID:0111371
Partington syndrome,DOID:14744
familial progressive hyperpigmentation with or without hypopigmentation,DOID:0111373
acute intermittent porphyria,DOID:3890
insulinoma,DOID:3892
developmental and epileptic encephalopathy 50,DOID:0080419
developmental and epileptic encephalopathy 54,DOID:0080418
developmental and epileptic encephalopathy 23,DOID:0080415
myocardial infarction,DOID:5844
developmental and epileptic encephalopathy 38,DOID:0080417
developmental and epileptic encephalopathy 32,DOID:0080416
familial adenomatous polyposis 3,DOID:0080411
familial adenomatous polyposis 2,DOID:0080410
developmental and epileptic encephalopathy 18,DOID:0080413
osteopoikilosis,DOID:11991
parotitis,DOID:10301
primary coenzyme Q10 deficiency 5,DOID:0070242
systemic Epstein-Barr virus positive T-cell lymphoma of childhood,DOID:0070324
Prinzmetal angina,DOID:0111151
autosomal dominant isolated ectopia lentis 1,DOID:0111150
nervous system cancer,DOID:3093
autosomal recessive spinocerebellar ataxia 21,DOID:0111155
Castleman disease,DOID:0111157
spermatogenic failure 9,DOID:0111156
primary coenzyme Q10 deficiency 4,DOID:0070241
Peters plus syndrome,DOID:0080201
bacterial infectious disease,DOID:104
autosomal recessive nonsyndromic deafness 26,DOID:0110484
benign epilepsy with centrotemporal spikes,DOID:3329
temporal lobe epilepsy,DOID:3328
partial motor epilepsy,DOID:3327
purpura,DOID:3326
Sandhoff disease,DOID:3323
GM1 gangliosidosis,DOID:3322
GM2 gangliosidosis,DOID:3321
Tay-Sachs disease,DOID:3320
autosomal recessive nonsyndromic deafness 29,DOID:0110487
tonsil cancer,DOID:8858
autosomal recessive nonsyndromic deafness 23,DOID:0110481
autosomal recessive nonsyndromic deafness 24,DOID:0110482
alpha thalassemia-X-linked intellectual disability syndrome,DOID:0110030
autosomal recessive nonsyndromic deafness 25,DOID:0110483
autosomal dominant Alport syndrome,DOID:0110032
hereditary retinal dystrophy,DOID:8500
lupus erythematosus,DOID:8857
syndromic X-linked intellectual disability Hedera type,DOID:0060806
atrophic gastritis,DOID:8929
infancy electroclinical syndrome,DOID:0050703
Charcot-Marie-Tooth disease recessive intermediate D,DOID:0110203
Charcot-Marie-Tooth disease dominant intermediate D,DOID:0110200
learning disability,DOID:8927
red-green color blindness,DOID:13909
Charcot-Marie-Tooth disease X-linked dominant 6,DOID:0110207
Charcot-Marie-Tooth disease recessive intermediate B,DOID:0110204
skin melanoma,DOID:8923
duodenal gastrinoma,DOID:7959
Nijmegen breakage syndrome,DOID:7400
urinary bladder cancer,DOID:11054
immunodeficiency with hyper-IgM type 2,DOID:0060758
immunodeficiency with hyper IgM type 5,DOID:0060759
familial temporal lobe epilepsy 7,DOID:0060751
familial temporal lobe epilepsy 5,DOID:0060752
familial temporal lobe epilepsy 8,DOID:0060754
sclerosteosis 1,DOID:0060756
sclerosteosis 2,DOID:0060757
hypogonadotropic hypogonadism 1 with or without anosmia,DOID:0090094
hypogonadotropic hypogonadism 19 with or without anosmia,DOID:0090090
hypogonadotropic hypogonadism 23 with or without anosmia,DOID:0090091
hypogonadotropic hypogonadism 3 with or without anosmia,DOID:0090092
hypogonadotropic hypogonadism 21 with or without anosmia,DOID:0090093
hydrocephalus,DOID:10908
congenital dyserythropoietic anemia,DOID:1338
Diamond-Blackfan anemia,DOID:1339
calcinosis,DOID:182
ossifying fibroma,DOID:180
microcephaly,DOID:10907
motor neuron disease,DOID:231
lateral sclerosis,DOID:230
colonic benign neoplasm,DOID:235
colon adenocarcinoma,DOID:234
pupil disease,DOID:238
familial hyperlipidemia,DOID:1168
scotoma,DOID:9335
cutaneous mastocytosis,DOID:3663
wheat allergy,DOID:3660
mast cell neoplasm,DOID:3664
diffuse cutaneous mastocytosis,DOID:3665
intermittent claudication,DOID:3669
neuroendocrine carcinoma,DOID:1800
mononeuritis,DOID:1802
neuritis,DOID:1803
xeroderma pigmentosum group F,DOID:0110848
xeroderma pigmentosum group G,DOID:0110849
xeroderma pigmentosum group C,DOID:0110844
xeroderma pigmentosum group D,DOID:0110845
xeroderma pigmentosum group E,DOID:0110846
xeroderma pigmentosum variant type,DOID:0110847
Usher syndrome type 2D,DOID:0110840
Usher syndrome type 3A,DOID:0110841
Usher syndrome type 3B,DOID:0110842
xeroderma pigmentosum group A,DOID:0110843
alcoholic hepatitis,DOID:12351
hyperandrogenism,DOID:11613
polycystic ovary syndrome,DOID:11612
autosomal recessive spinocerebellar ataxia 17,DOID:0080064
carotid artery disease,DOID:3407
autosomal recessive spinocerebellar ataxia 20,DOID:0080066
histiocytosis,DOID:3405
autosomal recessive spinocerebellar ataxia 12,DOID:0080060
autosomal recessive spinocerebellar ataxia 2,DOID:0080061
autosomal recessive spinocerebellar ataxia 13,DOID:0080062
inappropriate ADH syndrome,DOID:3401
Charcot-Marie-Tooth disease type 6,DOID:0080068
hypertensive retinopathy,DOID:11561
complex regional pain syndrome,DOID:3223
mitochondrial DNA depletion syndrome,DOID:0070329
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,DOID:0111520
autosomal dominant progressive external ophthalmoplegia 1,DOID:0111521
autosomal recessive progressive external ophthalmoplegia 1,DOID:0111522
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3,DOID:0111523
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5,DOID:0111524
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4,DOID:0111525
Mullerian aplasia and hyperandrogenism,DOID:0111526
spinal muscular atrophy with progressive myoclonic epilepsy,DOID:0111527
Naegeli-Franceschetti-Jadassohn syndrome,DOID:0111528
familial multiple nevi flammei,DOID:0111529
COVID-19,DOID:0080600
ankylosing spondylitis 1,DOID:0080603
anterior segment dysgenesis 1,DOID:0080606
anterior segment dysgenesis 3,DOID:0080608
anterior segment dysgenesis 4,DOID:0080609
glycogen storage disease VIII,DOID:2751
glycogen storage disease IV,DOID:2750
glycogen storage disease II,DOID:2752
Mycobacterium avium complex disease,DOID:2755
glycogen storage disease VI,DOID:2754
diaphragmatic eventration,DOID:10480
neuromuscular junction disease,DOID:439
autoimmune disease of the nervous system,DOID:438
myofascial pain syndrome,DOID:431
myasthenia gravis,DOID:437
peptic ulcer disease,DOID:750
situs inversus,DOID:758
gliomatosis cerebri,DOID:6128
endocardium disease,DOID:0050825
conduct disorder,DOID:12995
foodborne botulism,DOID:0050352
Char syndrome,DOID:0060563
lethal congenital contracture syndrome 2,DOID:0060560
Ritscher-Schinzel syndrome,DOID:0060565
spinal disease,DOID:0060564
hypertrichotic osteochondrodysplasia Cantu type,DOID:0060569
pulmonary hypertension,DOID:6432
juvenile glaucoma,DOID:1068
paronychia,DOID:13117
Bell's palsy,DOID:12506
hereditary sensory and autonomic neuropathy type 7,DOID:0070149
Saethre-Chotzen syndrome,DOID:14768
Laron syndrome,DOID:9521
refractive error,DOID:9835
hyperopia,DOID:9834
hypertropia,DOID:9837
Larsen syndrome,DOID:14764
renal agenesis,DOID:14766
interstitial nephritis,DOID:1063
autosomal recessive cutis laxa type III,DOID:0070143
myofibrillar myopathy 4,DOID:0080095
extrapulmonary tuberculosis,DOID:0050598
tooth agenesis,DOID:0050591
severe congenital neutropenia,DOID:0050590
primary congenital glaucoma,DOID:0050593
asphyxiating thoracic dystrophy,DOID:0050592
glycogen storage disease IX,DOID:0050594
intestinal schistosomiasis,DOID:0050597
osteogenesis imperfecta type 15,DOID:0110347
osteogenesis imperfecta type 10,DOID:0110346
osteogenesis imperfecta type 16,DOID:0110345
osteogenesis imperfecta type 5,DOID:0110344
osteogenesis imperfecta type 14,DOID:0110343
osteogenesis imperfecta type 13,DOID:0110342
osteogenesis imperfecta type 2,DOID:0110341
osteogenesis imperfecta type 4,DOID:0110340
prion disease,DOID:649
membranoproliferative glomerulonephritis,DOID:2920
glomerulonephritis,DOID:2921
Klippel-Trenaunay syndrome,DOID:2926
glomus tumor,DOID:2431
dermis tumor,DOID:2438
apolipoprotein C-III deficiency,DOID:0111370
Schnitzler syndrome,DOID:4371
peanut allergy,DOID:4378
idiopathic generalized epilepsy 12,DOID:0111313
idiopathic generalized epilepsy 11,DOID:0111312
idiopathic generalized epilepsy 15,DOID:0111316
idiopathic generalized epilepsy 14,DOID:0111315
idiopathic generalized epilepsy 13,DOID:0111314
Becker muscular dystrophy,DOID:9883
peroxisome biogenesis disorder 4A,DOID:0080479
peroxisome biogenesis disorder 3A,DOID:0080478
developmental delay and seizures with or without movement abnormalities,DOID:0080473
developmental and epileptic encephalopathy 92,DOID:0080471
developmental and epileptic encephalopathy 36,DOID:0080470
peroxisome biogenesis disorder 2A,DOID:0080477
peroxisome biogenesis disorder 1A,DOID:0080476
psoriasis 2,DOID:0080475
pustular psoriasis 14,DOID:0080474
developmental and epileptic encephalopathy 15,DOID:0080414
familial adenomatous polyposis 4,DOID:0080412
choroiditis,DOID:11406
osteosarcoma,DOID:3347
osteitis fibrosa,DOID:3341
glycoproteinosis,DOID:3343
complete generalized lipodystrophy,DOID:0080298
Coffin-Siris syndrome 6,DOID:0080297
hypomyelinating leukodystrophy 14,DOID:0080296
short-rib thoracic dysplasia 19 with or without polydactyly,DOID:0080295
Charcot-Marie-Tooth disease dominant intermediate G,DOID:0080294
short-rib thoracic dysplasia 18 with polydactyly,DOID:0080293
retinitis pigmentosa 81,DOID:0080292
developmental and epileptic encephalopathy 59,DOID:0080291
familial erythrocytosis 5,DOID:0080290
hereditary night blindness,DOID:8498
night blindness,DOID:8499
Alzheimer's disease 3,DOID:0110042
gynecomastia,DOID:12698
oligospermia,DOID:14228
azoospermia,DOID:14227
abdominal obesity-metabolic syndrome 1,DOID:14221
ochronosis,DOID:14223
lacrimal duct obstruction,DOID:13929
eosinophilic esophagitis,DOID:13922
autosomal dominant nonsyndromic deafness 70,DOID:0110592
autosomal dominant nonsyndromic deafness 9,DOID:0110593
autosomal dominant nonsyndromic deafness 69,DOID:0110590
cataract 19 multiple types,DOID:0110263
primary ciliary dyskinesia 1,DOID:0110594
Stromme syndrome,DOID:0110595
cataract 22 multiple types,DOID:0110268
cataract 3 multiple types,DOID:0110269
primary ciliary dyskinesia 14,DOID:0110598
primary ciliary dyskinesia 3,DOID:0110599
anthrax disease,DOID:7427
brucellosis,DOID:11077
nephronophthisis 1,DOID:0111112
congenital diarrhea 5 with tufting enteropathy,DOID:0060776
congenital secretory sodium diarrhea 8,DOID:0060777
congenital diarrhea,DOID:0060774
microvillus inclusion disease,DOID:0060775
multiple types of congenital heart defects 6,DOID:0060772
cleft lip-palate-ectodermal dysplasia syndrome,DOID:0060773
Joubert syndrome 23,DOID:0110992
congenital diarrhea 7 with exudative enteropathy,DOID:0060778
congenital malabsorptive diarrhea 4,DOID:0060779
SADDAN,DOID:0111158
Joubert syndrome 24,DOID:0110993
familial melanoma,DOID:6846
focal segmental glomerulosclerosis,DOID:1312
congenital mirror movement disorder,DOID:0111153
germ cell and embryonal cancer,DOID:3095
postural orthostatic tachycardia syndrome,DOID:0111154
autoimmune polyendocrine syndrome type 2,DOID:0050168
cutaneous lupus erythematosus,DOID:0050169
hereditary spastic paraplegia 12,DOID:0110765
autoimmune polyendocrine syndrome type 1,DOID:0050167
purine nucleoside phosphorylase deficiency,DOID:5813
MHC class II deficiency,DOID:5812
adenosine deaminase deficiency,DOID:5810
hemangioma,DOID:255
pyruvate decarboxylase deficiency,DOID:3649
pancreatitis,DOID:4989
tarsal-carpal coalition syndrome,DOID:0050789
iridogoniodysgenesis syndrome,DOID:0050786
Ogden syndrome,DOID:0050781
necrosis of pituitary,DOID:3646
secondary progressive multiple sclerosis,DOID:0050783
Nager acrofacial dysostosis,DOID:5768
congenital stationary night blindness 1D,DOID:0110868
congenital stationary night blindness autosomal dominant 1,DOID:0110862
congenital stationary night blindness autosomal dominant 2,DOID:0110863
polycystic kidney disease 3,DOID:0110860
autosomal recessive polycystic kidney disease,DOID:0110861
congenital stationary night blindness 1C,DOID:0110867
congenital stationary night blindness 1F,DOID:0110864
congenital stationary night blindness 1B,DOID:0110865
varicocele,DOID:12337
male infertility,DOID:12336
biliary dyskinesia,DOID:4140
intraorbital meningioma,DOID:4141
inclusion body myositis,DOID:3429
vestibular disease,DOID:3426
Klippel-Feil syndrome 2,DOID:0080590
achondrogenesis,DOID:0080043
hypochondroplasia,DOID:0080041
Stickler syndrome,DOID:0080046
pseudoachondroplasia,DOID:0080047
hypochondrogenesis,DOID:0080044
Kniest dysplasia,DOID:0080045
Kleefstra syndrome 2,DOID:0080598
spinal chordoma,DOID:4153
acromesomelic dysplasia,DOID:0080049
Joubert syndrome 4,DOID:0110999
alopecia-mental retardation syndrome 1,DOID:0080628
corticosterone methyloxidase deficiency 1,DOID:0080626
Heimler syndrome 2,DOID:0080624
severe congenital neutropenia 1,DOID:0080625
peroxisome biogenesis disorder 2B,DOID:0080622
Heimler syndrome 1,DOID:0080623
familial glucocorticoid deficiency,DOID:0080620
glucocorticoid deficiency 1,DOID:0080621
glottis carcinoma,DOID:2599
laryngeal benign neoplasm,DOID:2598
familial nephrotic syndrome,DOID:2590
glottis cancer,DOID:2595
hepatitis,DOID:2237
prothrombin deficiency,DOID:2235
contact dermatitis,DOID:2773
autoimmune disease,DOID:417
scleroderma,DOID:419
systemic scleroderma,DOID:418
Bernard-Soulier syndrome type A2,DOID:0111059
Torrance type platyspondylic dysplasia,DOID:0111508
autonomic nervous system disease,DOID:11465
palmoplantar keratoderma-esophageal carcinoma syndrome,DOID:0111506
Lenz-Majewski hyperostotic dwarfism,DOID:0111507
Li-Fraumeni syndrome 2,DOID:0111504
palmoplantar keratoderma-deafness syndrome,DOID:0111505
combined oxidative phosphorylation deficiency 6,DOID:0111502
Li-Fraumeni syndrome 1,DOID:0111503
combined oxidative phosphorylation deficiency 23,DOID:0111500
combined oxidative phosphorylation deficiency 29,DOID:0111501
mood disorder,DOID:3324
congenital myasthenic syndrome 4C,DOID:0110679
congenital myasthenic syndrome 4A,DOID:0110678
myeloid sarcoma,DOID:8683
congenital myasthenic syndrome 17,DOID:0110674
congenital myasthenic syndrome 19,DOID:0110673
congenital myasthenic syndrome 21,DOID:0110672
congenital myasthenic syndrome 9,DOID:0110670
hypoglycemia,DOID:9993
progressive myoclonus epilepsy,DOID:891
congenital myasthenic syndrome 2A,DOID:0110681
Wilson disease,DOID:893
cardiovascular organ benign neoplasm,DOID:0060091
central nervous system benign neoplasm,DOID:0060090
uterine benign neoplasm,DOID:0060095
bone benign neoplasm,DOID:0060094
musculoskeletal system benign neoplasm,DOID:0060099
Angelman syndrome,DOID:1932
Rubinstein-Taybi syndrome,DOID:1933
Bardet-Biedl syndrome,DOID:1935
Cowden syndrome,DOID:6457
plexiform neurofibroma,DOID:5151
esophageal carcinoma,DOID:1107
acute proliferative glomerulonephritis,DOID:13138
glossitis,DOID:1456
KBG syndrome,DOID:14780
olivopontocerebellar atrophy,DOID:14784
polyarteritis nodosa,DOID:9810
spondyloepiphyseal dysplasia congenita,DOID:14789
Barber-Say syndrome,DOID:0060549
Van der Woude syndrome,DOID:0060239
Van Maldergem syndrome,DOID:0060238
Warburg micro syndrome,DOID:0060237
xanthinuria,DOID:0060236
carnitine palmitoyltransferase II deficiency,DOID:0060235
Carpenter syndrome,DOID:0060234
cardiofaciocutaneous syndrome,DOID:0060233
branchiootic syndrome,DOID:0060232
Bruck syndrome,DOID:0060231
Hermansky-Pudlak syndrome 8,DOID:0060546
hereditary elliptocytosis,DOID:2373
pilomatrixoma,DOID:5374
hemoglobin D disease,DOID:5378
hemoglobin E disease,DOID:5379
thrombocytopenia due to platelet alloimmunization,DOID:1587
cranioectodermal dysplasia,DOID:0050577
Senior-Loken syndrome,DOID:0050576
D-2-hydroxyglutaric aciduria,DOID:0050575
L-2-hydroxyglutaric aciduria,DOID:0050574
2-hydroxyglutaric aciduria,DOID:0050573
cone-rod dystrophy,DOID:0050572
congenital disorder of glycosylation type II,DOID:0050571
congenital disorder of glycosylation type I,DOID:0050570
glycogen storage disease XV,DOID:0050579
occult macular dystrophy,DOID:0050578
leiomyoma cutis,DOID:5132
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,DOID:0060828
mitochondrial DNA depletion syndrome 12b,DOID:0080335
leiomyomatosis,DOID:5138
mitochondrial DNA depletion syndrome 15,DOID:0080337
autosomal dominant Emery-Dreifuss muscular dystrophy 5,DOID:0070250
synovial sarcoma,DOID:5485
amelanotic melanoma,DOID:4359
autosomal dominant Emery-Dreifuss muscular dystrophy 7,DOID:0070252
sea-blue histiocytosis,DOID:4423
congenital disorder of glycosylation type IIa,DOID:0070253
juvenile xanthogranuloma,DOID:4424
adrenal medulla cancer,DOID:5719
intellectual disability-severe speech delay-mild dysmorphism syndrome,DOID:0111331
combined saposin deficiency,DOID:0111330
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,DOID:0111333
Pitt-Hopkins-like syndrome 2,DOID:0111332
myopathy with extrapyramidal signs,DOID:0111335
congenital leptin deficiency,DOID:0111334
Jackson-Weiss syndrome,DOID:0111337
craniofacial-deafness-hand syndrome,DOID:0111336
Vohwinkel syndrome,DOID:0111339
familial erythrocytosis 3,DOID:0080338
familial erythrocytosis 4,DOID:0080339
developmental and epileptic encephalopathy 29,DOID:0080451
developmental and epileptic encephalopathy 17,DOID:0080450
developmental and epileptic encephalopathy 25,DOID:0080453
developmental and epileptic encephalopathy 28,DOID:0080452
developmental and epileptic encephalopathy 52,DOID:0080455
developmental and epileptic encephalopathy 42,DOID:0080454
"microcephaly, seizures, and developmental delay",DOID:0080457
developmental and epileptic encephalopathy 46,DOID:0080456
developmental and epileptic encephalopathy 12,DOID:0080459
developmental and epileptic encephalopathy 35,DOID:0080458
hormone producing pituitary cancer,DOID:5716
galactose epimerase deficiency,DOID:0111458
Charcot-Marie-Tooth disease dominant intermediate A,DOID:0110202
distal hereditary motor neuronopathy type 7,DOID:0111199
autosomal dominant distal hereditary motor neuronopathy,DOID:0111198
primary thrombocytopenia,DOID:8925
erythrokeratodermia variabilis et progressiva 1,DOID:0111195
autosomal dominant adult-onset proximal spinal muscular atrophy,DOID:0111194
autosomal recessive distal hereditary motor neuronopathy,DOID:0111197
X-linked distal spinal muscular atrophy 3,DOID:0111196
distal muscular dystrophy Tateyama type,
distal muscular dystrophy 4,
facioscapulohumeral muscular dystrophy 2,DOID:0111193
facioscapulohumeral muscular dystrophy 1,DOID:0111192
Charcot-Marie-Tooth disease dominant intermediate F,DOID:0110206
Treacher Collins syndrome,DOID:2908
Goldenhar syndrome,DOID:2907
Ewing sarcoma,DOID:3369
childhood osteosarcoma,DOID:3361
pulmonary valve stenosis,DOID:6420
localized scleroderma,DOID:8472
amelogenesis imperfecta hypomaturation type 2A5,DOID:0110063
amelogenesis imperfecta hypomaturation type 2A2,DOID:0110060
amelogenesis imperfecta hypomaturation type 2A3,DOID:0110061
amelogenesis imperfecta type 1G,DOID:0110066
amelogenesis imperfecta type 1H,DOID:0110064
amelogenesis imperfecta type 1F,DOID:0110065
frontotemporal dementia and/or amyotrophic lateral sclerosis-3,DOID:0110068
frontotemporal dementia and/or amyotrophic lateral sclerosis-4,DOID:0110069
childhood type dermatomyositis,DOID:14203
cataract 30,DOID:0110248
cataract 11 multiple types,DOID:0110249
cataract 36,DOID:0110247
cataract 38,DOID:0110245
cataract 13 with adult i phenotype,DOID:0110242
cataract 46 juvenile-onset,DOID:0110243
cataract 20 multiple types,DOID:0110240
cataract 41,DOID:0110241
bilateral breast cancer,DOID:6741
monoclonal gammopathy of uncertain significance,DOID:7442
ITM2B-related cerebral amyloid angiopathy 1,DOID:0070029
neurooculocardiogenitourinary syndrome,DOID:0111675
hyperinsulinism,DOID:2018
parasagittal meningioma,DOID:6869
pineoblastoma,DOID:1664
hyperthyroidism,DOID:7998
short chain acyl-CoA dehydrogenase deficiency,DOID:0080154
familial glomangioma,DOID:7996
thyrotoxicosis,DOID:7997
cerebrovascular disease,DOID:6713
Kartagener syndrome,DOID:0050144
depressive disorder,DOID:1596
chorioangioma,DOID:277
melancholic depression,DOID:1595
renovascular hypertension,DOID:1591
focal segmental glomerulosclerosis 9,DOID:0111134
Meckel's diverticulum,DOID:9487
disease of metabolism,DOID:0014667
aortic aneurysm,DOID:3627
urinary system cancer,DOID:3996
central nervous system cancer,DOID:3620
cannabis dependence,DOID:1849
Scheuermann's disease,DOID:13300
hereditary spastic paraplegia 48,DOID:0110800
hereditary spastic paraplegia 49,DOID:0110801
hereditary spastic paraplegia 50,DOID:0110802
hereditary spastic paraplegia 51,DOID:0110803
hereditary spastic paraplegia 52,DOID:0110804
hereditary spastic paraplegia 53,DOID:0110805
hereditary spastic paraplegia 54,DOID:0110806
granular corneal dystrophy,DOID:12318
hereditary spastic paraplegia 56,DOID:0110808
hereditary spastic paraplegia 57,DOID:0110809
syphilis,DOID:4166
aphthous stomatitis,DOID:9663
ganglioneuroblastoma,DOID:4163
senile cataract,DOID:9669
"spondyloepimetaphyseal dysplasia, Strudwick type",DOID:0080028
autosomal recessive spinocerebellar ataxia 16,DOID:0080029
nemaline myopathy,DOID:3191
neurilemmoma,DOID:3192
peripheral nerve sheath neoplasm,DOID:3193
Jansen's metaphyseal chondrodysplasia,DOID:0080020
Schmid metaphyseal chondrodysplasia,DOID:0080021
"otospondylomegaepiphyseal dysplasia, autosomal recessive",DOID:0080026
spondyloepimetaphyseal dysplasia,DOID:0080027
milk allergy,DOID:4376
oculocutaneous albinism type II,DOID:0070096
oculocutaneous albinism type III,DOID:0070097
oculocutaneous albinism type IA,DOID:0070094
oculocutaneous albinism type IB,DOID:0070095
schizophrenia 18,DOID:0070093
schizophrenia 15,DOID:0070091
oculocutaneous albinism type IV,DOID:0070098
Langerhans-cell histiocytosis,DOID:2571
Alzheimer's disease,DOID:10652
familial febrile seizures 8,DOID:0111298
generalized epilepsy with febrile seizures plus 10,DOID:0111296
generalized epilepsy with febrile seizures plus 2,DOID:0111294
idiopathic generalized epilepsy 10,DOID:0111292
Bloom syndrome,DOID:2717
diffuse cystic renal dysplasia,DOID:0111682
systemic lupus erythematosus,DOID:9074
histiocytoid hemangioma,DOID:474
skin hemangioma,DOID:471
angiokeratoma,DOID:479
tibial muscular dystrophy,DOID:0111078
myostatin-related muscle hypertrophy,DOID:0111072
progressive familial heart block,DOID:0111073
congenital bile acid synthesis defect 3,DOID:0111070
congenital bile acid synthesis defect 1,DOID:0111071
progressive familial heart block type IB,DOID:0111076
pyruvate kinase deficiency of red cells,DOID:0111077
progressive familial heart block type IA,DOID:0111074
long QT syndrome 14,DOID:0110655
long QT syndrome 13,DOID:0110654
congenital myasthenic syndrome 8,DOID:0110657
long QT syndrome 15,DOID:0110656
long QT syndrome 10,DOID:0110651
long QT syndrome 9,DOID:0110650
long QT syndrome 12,DOID:0110653
long QT syndrome 11,DOID:0110652
congenital myasthenic syndrome 7,DOID:0110659
congenital myasthenic syndrome 15,DOID:0110658
HCL-V,DOID:713
T-cell lymphoblastic leukemia/lymphoma,
mumps,DOID:10264
autoimmune hemolytic anemia,DOID:718
nephroblastoma,DOID:2154
endomyocardial fibrosis,DOID:12932
bone cancer,DOID:184
spontaneous ocular nystagmus,DOID:11771
schizophreniform disorder,DOID:11328
rickets,DOID:10609
"hand, foot and mouth disease",DOID:10881
herpangina,DOID:10883
lepromatous leprosy,DOID:10887
short bowel syndrome,DOID:10605
prostatic hypertrophy,DOID:11132
secondary hypertension,DOID:11130
lactose intolerance,DOID:10604
Legg-Calve-Perthes disease,DOID:14415
glucose intolerance,DOID:10603
invasive bladder transitional cell carcinoma,DOID:6477
spondyloarthropathy,DOID:1123
blindness,DOID:1432
pyuria,DOID:1439
pituitary apoplexy,DOID:1129
galactosemia,DOID:9870
Balo concentric sclerosis,DOID:0060215
frontotemporal dementia and/or amyotrophic lateral sclerosis-2,DOID:0060214
amyotrophic lateral sclerosis type 20,DOID:0060211
amyotrophic lateral sclerosis type 19,DOID:0060210
frontotemporal dementia and/or amyotrophic lateral sclerosis-1,DOID:0060213
amyotrophic lateral sclerosis type 21,DOID:0060212
Fukuyama congenital muscular dystrophy,DOID:0050559
Ullrich congenital muscular dystrophy,DOID:0050558
X-linked sideroblastic anemia with ataxia,DOID:0050554
congenital muscular dystrophy,DOID:0050557
Wiskott-Aldrich syndrome,DOID:9169
JMP syndrome,
bipolar ll disorder,DOID:0060166
cataract 12 multiple types,DOID:0110239
lip disease,DOID:9297
cleft lip,DOID:9296
commensal bacterial infectious disease,DOID:0050339
primary bacterial infectious disease,DOID:0050338
non-syndromic intellectual disability,DOID:0050889
syndromic intellectual disability,DOID:0050888
LADD syndrome,DOID:0081370
spinocerebellar ataxia type 5,DOID:0050882
inclusion body myopathy with Paget disease of bone and frontotemporal dementia,DOID:0050881
enlarged vestibular aqueduct,DOID:0050332
Townes-Brocks syndrome,DOID:0050887
Troyer syndrome,DOID:0050886
IMAGe syndrome,DOID:0050885
hypophosphatemia,DOID:0050336
achalasia,DOID:9164
colonic disease,DOID:5353
eczema herpeticum,DOID:9123
Loeys-Dietz syndrome 2,DOID:0070234
cataract 2 multiple types,DOID:0110235
cataract 4 multiple types,DOID:0110234
lysosomal acid lipase deficiency,DOID:0080217
tuberous sclerosis,DOID:13515
pain agnosia,DOID:0060145
bullous retinoschisis,DOID:12108
dacryoadenitis,DOID:950
Cockayne syndrome,DOID:2962
liposarcoma,DOID:3382
Papillon-Lefevre disease,DOID:3389
periodontal disease,DOID:3388
hemoglobinuria,DOID:582
achromatopsia 3,DOID:0110008
achromatopsia 7,DOID:0110009
salmonellosis,DOID:0060859
hypotonia-cystinuria syndrome,DOID:0060858
septooptic dysplasia,DOID:0060857
"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",DOID:0110001
autosomal dominant pseudohypoaldosteronism type 1,DOID:0060855
autosomal recessive pseudohypoaldosteronism type 1,DOID:0060854
Potocki-Lupski syndrome,DOID:0060853
Leber congenital amaurosis 9,DOID:0110005
annular pancreas,DOID:0060850
cataract 34 multiple types,DOID:0110230
Schaaf-Yang syndrome,DOID:0111715
autosomal recessive nonsyndromic deafness 31,DOID:0110490
Temple syndrome,DOID:0111713
Kagami-Ogata syndrome,DOID:0111712
focal nonepidermolytic palmoplantar keratoderma 2,DOID:0111711
focal or diffuse nonepidermolytic palmoplantar keratoderma,DOID:0111710
kidney angiomyolipoma,DOID:8411
narcolepsy,DOID:8986
neonatal jaundice,DOID:2383
anxiety disorder,DOID:2030
communication disorder,DOID:2033
encephalomalacia,DOID:2034
parathyroid adenoma,DOID:7608
syndromic X-linked intellectual disability 5,DOID:0060800
lymphadenitis,DOID:1602
MEHMO syndrome,DOID:0060801
anencephaly,DOID:0060668
cerebral cavernous malformation,DOID:0060669
syndromic X-linked intellectual disability Snyder type,DOID:0060802
adenocarcinoma,DOID:299
"3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia",DOID:0110003
nail-patella syndrome,DOID:9467
ovarian mucinous adenocarcinoma,DOID:3606
toxic encephalopathy,DOID:3602
extrinsic cardiomyopathy,DOID:3978
cephalosporin allergy,DOID:0040021
Usher syndrome type 3,DOID:0110828
type 2 diabetes mellitus,DOID:9352
Usher syndrome type 2,DOID:0110827
hereditary spastic paraplegia 9A,DOID:0110824
hereditary spastic paraplegia 9B,DOID:0110825
hereditary spastic paraplegia 77,DOID:0110822
hereditary spastic paraplegia 75,DOID:0110820
hereditary spastic paraplegia 76,DOID:0110821
syndromic X-linked intellectual disability Najm type,DOID:0060807
necrotizing fasciitis,DOID:9602
dengue shock syndrome,DOID:0050125
congenital disorder of glycosylation Ib,DOID:0080554
congenital disorder of glycosylation Ic,DOID:0080555
congenital disorder of glycosylation Id,DOID:0080556
congenital disorder of glycosylation Ie,DOID:0080557
Noonan syndrome with multiple lentigines 3,DOID:0080550
Naxos disease,DOID:0080551
congenital disorder of glycosylation Ia,DOID:0080552
congenital disorder of glycosylation Iaa,DOID:0080553
congenital disorder of glycosylation If,DOID:0080558
congenital disorder of glycosylation Ig,DOID:0080559
ischemic bone disease,DOID:0080008
X-linked dominant disease,DOID:0080009
neuronal ceroid lipofuscinosis 6A,DOID:0110729
achromatopsia 2,DOID:0110007
syndromic X-linked intellectual disability Claes-Jensen type,DOID:0060809
geniculate ganglionitis,DOID:14075
cardiovascular system disease,DOID:1287
granulomatous angiitis,DOID:2555
opiate dependence,DOID:2559
Wolfram syndrome,DOID:10632
CODAS syndrome,DOID:0111274
speech-language disorder-1,DOID:0111275
"sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",DOID:0111276
mitochondrial trifunctional protein deficiency,DOID:0111277
isolated sulfite oxidase deficiency,DOID:0111270
Oliver-McFarlane syndrome,DOID:0111271
occipital horn syndrome,DOID:0111272
histiocytosis-lymphadenopathy plus syndrome,DOID:0111278
psoriasis 7,DOID:0111279
Gilbert syndrome,DOID:2739
pseudoxanthoma elasticum,DOID:2738
Rothmund-Thomson syndrome,DOID:2732
vesiculobullous skin disease,DOID:2731
epidermolysis bullosa,DOID:2730
keratosis follicularis,DOID:2734
peroxisomal disease,DOID:906
Zellweger syndrome,DOID:905
pleomorphic adenoma,DOID:452
cone-rod dystrophy 5,DOID:0111010
cone-rod dystrophy 6,DOID:0111011
cone-rod dystrophy 7,DOID:0111012
cone-rod dystrophy 3,DOID:0111013
adrenal gland disease,DOID:9553
cone-rod dystrophy 13,DOID:0111016
cone-rod dystrophy 10,DOID:0111017
cone-rod dystrophy 11,DOID:0111018
cone-rod dystrophy 12,DOID:0111019
rigid spine muscular dystrophy 1,DOID:0110633
megaconial type congenital muscular dystrophy,DOID:0110632
muscular dystrophy-dystroglycanopathy type B6,DOID:0110637
congenital merosin-deficient muscular dystrophy 1A,DOID:0110636
muscular dystrophy-dystroglycanopathy type B5,DOID:0110635
neuronal ceroid lipofuscinosis 13,DOID:0110727
congenital muscular dystrophy due to integrin alpha-7 deficiency,DOID:0110639
thalassemia,DOID:10241
extrahepatic cholestasis,DOID:13619
3-methylglutaconic aciduria type 3,DOID:0110004
pterygium,DOID:0002116
nail disease,DOID:4123
autosomal dominant nonsyndromic deafness 3B,DOID:0110565
Charcot-Marie-Tooth disease dominant intermediate E,DOID:0110205
gangliocytoma,DOID:2426
hydronephrosis,DOID:11111
Gilles de la Tourette syndrome,DOID:11119
hypersensitivity reaction disease,DOID:0060056
popliteal pterygium syndrome,DOID:0060055
autoimmune disease of cardiovascular system,DOID:0060051
autoimmune disease of blood,DOID:0060050
oculocerebrorenal syndrome,DOID:1056
congenital syphilis,DOID:9856
lingual-facial-buccal dyskinesia,DOID:9854
Yunis-Varon syndrome,DOID:0060589
Noonan syndrome 10,DOID:0060588
autosomal recessive spinocerebellar ataxia 19,DOID:0080065
Noonan syndrome 7,DOID:0060585
Noonan syndrome 6,DOID:0060584
Noonan syndrome 9,DOID:0060587
Noonan syndrome 8,DOID:0060586
Noonan syndrome 3,DOID:0060581
Noonan syndrome 2,DOID:0060580
Noonan syndrome 5,DOID:0060583
Noonan syndrome 4,DOID:0060582
pontocerebellar hypoplasia type 4,DOID:0060273
pontocerebellar hypoplasia type 3,DOID:0060272
pontocerebellar hypoplasia type 2E,DOID:0060271
pontocerebellar hypoplasia type 2D,DOID:0060270
pontocerebellar hypoplasia type 8,DOID:0060277
pontocerebellar hypoplasia type 7,DOID:0060276
pontocerebellar hypoplasia type 6,DOID:0060275
pontocerebellar hypoplasia type 5,DOID:0060274
pontocerebellar hypoplasia type 10,DOID:0060279
pontocerebellar hypoplasia type 9,DOID:0060278
autosomal recessive spinocerebellar ataxia 11,DOID:0080063
hereditary sensory and autonomic neuropathy type 1A,DOID:0070152
Charcot-Marie-Tooth disease type 2,DOID:0050539
Charcot-Marie-Tooth disease type 1,DOID:0050538
intermediate spinal muscular atrophy,DOID:0050530
exudative vitreoretinopathy,DOID:0050535
congenital stationary night blindness,DOID:0050534
polydactyly,DOID:1148
amyotrophic lateral sclerosis,DOID:332
nutritional deficiency disease,DOID:5113
gyrate atrophy,DOID:1415
retinal cancer,DOID:4645
epidermolysis bullosa simplex,DOID:4644
familial retinoblastoma,DOID:4648
protein-energy malnutrition,DOID:11801
retinitis pigmentosa 4,DOID:0110372
retinitis pigmentosa 61,DOID:0110373
retinitis pigmentosa 56,DOID:0110371
collecting duct carcinoma,DOID:4464
clear cell renal cell carcinoma,DOID:4467
pustulosis of palm and sole,DOID:4398
retinitis pigmentosa 46,DOID:0110409
Vogt-Koyanagi-Harada disease,DOID:12297
Charcot-Marie-Tooth disease type 1F,DOID:0110149
Li-Fraumeni syndrome,DOID:3012
posterior fossa meningioma,DOID:4211
breast malignant phyllodes tumor,DOID:3016
iron deficiency anemia,DOID:11758
hypochromic anemia,DOID:11759
Charcot-Marie-Tooth disease type 1A,DOID:0110148
cornea squamous cell carcinoma,DOID:13538
craniopharyngioma,DOID:3840
osteopetrosis,DOID:13533
severe acute respiratory syndrome,DOID:2945
pica disease,DOID:12128
bulimia nervosa,DOID:12129
bronchiolitis,DOID:2942
pulmonary alveolar proteinosis,DOID:12120
combined oxidative phosphorylation deficiency 27,DOID:0111489
combined oxidative phosphorylation deficiency 31,DOID:0111488
combined oxidative phosphorylation deficiency 7,DOID:0111487
combined oxidative phosphorylation deficiency 3,DOID:0111486
combined oxidative phosphorylation deficiency 24,DOID:0111485
combined oxidative phosphorylation deficiency 18,DOID:0111484
combined oxidative phosphorylation deficiency 2,DOID:0111483
combined oxidative phosphorylation deficiency 36,DOID:0111482
combined oxidative phosphorylation deficiency 11,DOID:0111481
combined oxidative phosphorylation deficiency 10,DOID:0111480
scleritis,DOID:13452
frozen shoulder,DOID:14188
age related macular degeneration 14,DOID:0110026
age related macular degeneration 15,DOID:0110027
age related macular degeneration 12,DOID:0110024
age related macular degeneration 13,DOID:0110025
autosomal dominant keratitis-ichthyosis-deafness syndrome,DOID:0060871
isolated growth hormone deficiency,DOID:0060870
age related macular degeneration 8,DOID:0110020
age related macular degeneration 9,DOID:0110021
intestinal obstruction,DOID:8437
primary hypomagnesemia,DOID:0060879
hypoparathyroidism-deafness-renal disease syndrome,DOID:0060878
age related macular degeneration 5,DOID:0110028
Bartter disease type 4a,DOID:0110145
epithelioid sarcoma,DOID:6193
bradyopsia,DOID:0050335
distal arthrogryposis type 2B1,DOID:0111600
Bartter disease type 3,DOID:0110144
autosomal recessive limb-girdle muscular dystrophy type 2H,DOID:0110282
autosomal recessive limb-girdle muscular dystrophy type 2J,DOID:0110283
autosomal recessive limb-girdle muscular dystrophy type 2F,DOID:0110280
autosomal recessive limb-girdle muscular dystrophy type 2G,DOID:0110281
autosomal recessive limb-girdle muscular dystrophy type 2S,DOID:0110287
autosomal recessive limb-girdle muscular dystrophy type 2L,DOID:0110284
autosomal recessive limb-girdle muscular dystrophy type 2Q,DOID:0110285
autosomal recessive limb-girdle muscular dystrophy type 2W,DOID:0110288
autosomal recessive limb-girdle muscular dystrophy type 2Y,DOID:0110289
excessive tearing,DOID:13757
post-traumatic stress disorder,DOID:2055
basal ganglia calcification,DOID:0060230
spindle cell lipoma,DOID:10184
chronic mucocutaneous candidiasis,DOID:2058
pancreatoblastoma,DOID:6823
plasma cell neoplasm,DOID:6536
demyelinating disease,DOID:3213
Alport syndrome,DOID:10983
pleural tuberculosis,DOID:106
Osgood-Schlatter's disease,DOID:7489
anterior segment dysgenesis,DOID:0060648
congenital hereditary endothelial dystrophy of cornea,DOID:0060649
recessive dystrophic epidermolysis bullosa,DOID:0060642
primary sclerosing cholangitis,DOID:0060643
ethylmalonic encephalopathy,DOID:0060640
endocrine-cerebro-osteodysplasia syndrome,DOID:0060641
fetal encasement syndrome,DOID:0060647
chondrodysplasia-pseudohermaphroditism syndrome,DOID:0060644
chronic recurrent multifocal osteomyelitis,DOID:0060645
pseudosarcomatous fibromatosis,DOID:7327
multiple epiphyseal dysplasia,DOID:12721
"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive",DOID:0090014
Cenani-Lenz syndactyly syndrome,DOID:0090015
chromosome 5q deletion syndrome,DOID:0090016
epidermolysis bullosa simplex with muscular dystrophy,DOID:0090017
immunodeficiency-centromeric instability-facial anomalies syndrome 3,DOID:0090010
immunodeficiency-centromeric instability-facial anomalies syndrome 4,DOID:0090011
severe combined immunodeficiency with sensitivity to ionizing radiation,DOID:0090012
"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive",DOID:0090013
autosomal dominant familial periodic fever,DOID:0090018
sitosterolemia,DOID:0090019
filariasis,DOID:1080
Edwards syndrome,DOID:1085
meningocele,DOID:1088
secondary hyperparathyroidism,DOID:12466
cholangitis,DOID:9446
leukoencephalopathy with vanishing white matter,DOID:0060868
shrimp allergy,DOID:0040001
viral hepatitis,DOID:1884
vesicoureteral reflux,DOID:9620
congenital disorder of glycosylation Iw,DOID:0080572
congenital disorder of glycosylation Ix,DOID:0080573
congenital disorder of glycosylation It,DOID:0080570
congenital disorder of glycosylation Iu,DOID:0080571
"spondyloepimetaphyseal dysplasia, Genevieve-type",DOID:0080576
polygenic disease,DOID:0080577
congenital disorder of glycosylation Iy,DOID:0080574
Larsen-like syndrome B3GAT3 type,DOID:0080575
digenic disease,DOID:0080578
3-Methylcrotonyl-CoA carboxylase 1 deficiency,DOID:0080579
adrenal cortex disease,DOID:3952
adrenal gland cancer,DOID:3953
Landau-Kleffner syndrome,DOID:2538
hematologic cancer,DOID:2531
tricuspid valve stenosis,DOID:4078
heart valve disease,DOID:4079
neurofibromatosis 2,
neurofibromatosis 1,DOID:0111253
Parkinson's disease 3,DOID:0111250
hyperferritinemia-cataract syndrome,DOID:0111256
gamma-glutamyl transpeptidase deficiency,DOID:0111257
glutaric acidemia I,DOID:0111254
McKusick-Kaufman syndrome,DOID:0111255
pentosuria,DOID:0111258
postaxial acrofacial dysostosis,DOID:0111259
uveal disease,DOID:3480
hidradenitis,DOID:2282
hidradenitis suppurativa,DOID:2280
frontal lobe epilepsy,DOID:3331
orofaciodigital syndrome XVII,DOID:0080289
hypermethioninemia due to adenosine kinase deficiency,DOID:0111038
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,DOID:0111039
CADASIL 2,DOID:0111036
glycine N-methyltransferase deficiency,DOID:0111037
hemochromatosis type 2,DOID:0111034
CADASIL 1,DOID:0111035
hemochromatosis type 2B,DOID:0111032
African iron overload,DOID:0111033
hemochromatosis type 3,DOID:0111030
hemochromatosis type 5,DOID:0111031
microphthalmia with limb anomalies,DOID:0060861
familial lipoprotein lipase deficiency,DOID:14118
pancreatic adenocarcinoma,DOID:4074
patterned macular dystrophy 1,DOID:0060866
autosomal recessive nonsyndromic deafness 28,DOID:0110486
phaeohyphomycosis,DOID:14049
autoimmune polyendocrine syndrome,DOID:14040
bipolar I disorder,DOID:14042
tracheal stenosis,DOID:3227
tracheal disease,DOID:3225
exostosis,DOID:203
macrocephaly-autism syndrome,DOID:0060867
autosomal recessive nonsyndromic deafness 22,DOID:0110480
autosomal recessive cutis laxa type I,DOID:0070144
hereditary sensory and autonomic neuropathy type 5,DOID:0070145
hereditary sensory neuropathy type 4,DOID:0070146
hereditary sensory neuropathy type 2C,DOID:0070147
autosomal recessive cutis laxa type IIC,DOID:0070140
autosomal recessive cutis laxa type II classic type,DOID:0070141
hyperostosis,DOID:205
primary ciliary dyskinesia 33,DOID:0110619
primary ciliary dyskinesia 13,DOID:0110618
osteogenesis imperfecta type 9,DOID:0110349
osteogenesis imperfecta type 12,DOID:0110348
primary ciliary dyskinesia 27,DOID:0110611
primary ciliary dyskinesia 34,DOID:0110610
primary ciliary dyskinesia 16,DOID:0110613
primary ciliary dyskinesia 10,DOID:0110612
primary ciliary dyskinesia 25,DOID:0110615
primary ciliary dyskinesia 5,DOID:0110617
enophthalmos,DOID:11175
hypokalemic periodic paralysis,DOID:14452
46 XX gonadal dysgenesis,DOID:14450
hyperkalemic periodic paralysis,DOID:14451
estrogen-receptor positive breast cancer,DOID:0060075
ductal carcinoma in situ,DOID:0060074
estrogen-receptor negative breast cancer,DOID:0060076
pre-malignant neoplasm,DOID:0060071
lymphatic system cancer,DOID:0060073
benign neoplasm,DOID:0060072
invasive aspergillosis,DOID:0050073
mucoepidermoid carcinoma,DOID:4531
renal-hepatic-pancreatic dysplasia,DOID:0060259
reticulate acropigmentation of Kitamura,DOID:0060258
sclerosteosis,DOID:0060251
idiopathic scoliosis,DOID:0060250
scapuloperoneal myopathy,DOID:0060253
sclerocornea,DOID:0060252
rippling muscle disease 2,DOID:0060255
Robinow syndrome,DOID:0060254
dyschromatosis symmetrica hereditaria,DOID:0060257
Dowling-Degos disease,DOID:0060256
bronchial disease,DOID:1176
progressive muscular atrophy,DOID:318
spinal cord disease,DOID:319
tenosynovial giant cell tumor,DOID:314
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,DOID:0111262
MERRF syndrome,DOID:310
Klippel-Feil syndrome,DOID:10426
degenerative myopia,DOID:11829
dermatomyositis,DOID:10223
hepatorenal syndrome,DOID:11823
ovarian dysgenesis 3,DOID:0080495
prolactinoma,DOID:5394
functioning pituitary adenoma,DOID:5395
tuberous sclerosis 1,DOID:0080324
polycystic kidney disease,DOID:0080322
autonomic nervous system benign neoplasm,DOID:0080321
peripheral nervous system benign neoplasm,DOID:0080320
histidinemia,DOID:0060168
periventricular leukomalacia,DOID:13088
intracranial arterial disease,DOID:13089
autosomal dominant Emery-Dreifuss muscular dystrophy 4,DOID:0070249
autosomal recessive nonsyndromic deafness 111,DOID:0111640
Culler-Jones syndrome,DOID:0080328
autosomal recessive nonsyndromic deafness 115,DOID:0111643
mucinous adenocarcinoma,DOID:3030
angle-closure glaucoma,DOID:13550
macular retinal edema,DOID:4449
macular degeneration,DOID:4448
neurogenic bladder,DOID:12143
Chagas disease,DOID:12140
dysgerminoma,DOID:4441
seminoma,DOID:4440
cystoid macular edema,DOID:4447
esophagus adenocarcinoma,DOID:4914
pituitary carcinoma,DOID:4916
Horner's syndrome,DOID:11486
hemopericardium,DOID:11482
constrictive pericarditis,DOID:11481
epithelial recurrent erosion dystrophy,DOID:0070337
duodenal atresia,DOID:0080216
developmental and epileptic encephalopathy 8,DOID:0080215
punctate palmoplantar keratoderma type I,DOID:0080214
multiple mitochondrial dysfunctions syndrome 6,DOID:0070332
multiple mitochondrial dysfunctions syndrome,DOID:0070330
dystransthyretinemic hyperthyroxinemia,DOID:0080219
primary spontaneous pneumothorax,DOID:0080218
syndromic X-linked intellectual disability Siderius type,DOID:0060812
syndromic X-linked intellectual disability Turner type,DOID:0060811
syndromic X-linked intellectual disability type 10,DOID:0060810
syndromic X-linked intellectual disability 34,DOID:0060817
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,DOID:0060816
Miles-Carpenter syndrome,DOID:0060815
Wilson-Turner syndrome,DOID:0060814
congenital fibrosarcoma,DOID:8418
pneumonia,DOID:552
kidney disease,DOID:557
vulvar squamous tumor,DOID:2072
pituitary adenoma,DOID:3829
retinitis pigmentosa 11,DOID:0110408
retinitis pigmentosa 36,DOID:0110405
retinitis pigmentosa 30,DOID:0110406
retinitis pigmentosa 57,DOID:0110407
retinitis pigmentosa 74,DOID:0110401
retinitis pigmentosa 45,DOID:0110402
female reproductive organ cancer,DOID:120
iritis,DOID:1406
leiomyoma,DOID:127
retinitis pigmentosa 51,DOID:0110398
retinitis pigmentosa 37,DOID:0110399
anterior uveitis,DOID:1407
ataxia telangiectasia,DOID:12704
Friedreich ataxia,DOID:12705
hyperprolactinemia,DOID:12700
Silverman-Handmaker type dyssegmental dysplasia,DOID:0090032
myoclonic dystonia,DOID:0090033
corticosteroid-binding globulin deficiency,DOID:0090030
D-bifunctional protein deficiency,DOID:0090031
myoclonic dystonia 26,DOID:0090036
myoclonic dystonia 11,DOID:0090034
torsion dystonia 2,DOID:0090038
torsion dystonia 6,DOID:0090039
thoracic cancer,DOID:5093
aplastic anemia,DOID:12449
intracranial hypertension,DOID:9428
blepharitis,DOID:9423
lipid metabolism disorder,DOID:3146
Rett syndrome,DOID:1206
allergic disease,DOID:1205
brachydactyly type A1D,DOID:0110978
childhood electroclinical syndrome,DOID:0050704
adolescence-adult electroclinical syndrome,DOID:0050705
variable age at onset electroclinical syndrome,DOID:0050706
cardiomyopathy,DOID:0050700
electroclinical syndrome,DOID:0050701
neonatal period electroclinical syndrome,DOID:0050702
early infantile epileptic encephalopathy,DOID:0050709
basal cell carcinoma,DOID:2513
nevoid basal cell carcinoma syndrome,DOID:2512
brachydactyly type A1C,DOID:0110977
autonomic nervous system neoplasm,DOID:2621
testicular disease,DOID:2519
orchitis,DOID:2518
alveolar rhabdomyosarcoma,DOID:4051
congenital muscular dystrophy-dystroglycanopathy type A13,DOID:0111238
congenital muscular dystrophy-dystroglycanopathy type A10,DOID:0111239
congenital muscular dystrophy-dystroglycanopathy type A11,DOID:0111230
congenital muscular dystrophy-dystroglycanopathy type A8,DOID:0111231
congenital muscular dystrophy-dystroglycanopathy type A9,DOID:0111232
congenital muscular dystrophy-dystroglycanopathy A14,DOID:0111233
congenital muscular dystrophy-dystroglycanopathy A7,DOID:0111234
congenital muscular dystrophy-dystroglycanopathy type A12,DOID:0111235
congenital muscular dystrophy-dystroglycanopathy type A3,DOID:0111236
congenital muscular dystrophy-dystroglycanopathy type A1,DOID:0111237
Meier-Gorlin syndrome 7,DOID:0080518
PAPA syndrome,DOID:0080519
epidermolysis bullosa simplex localized type,DOID:0080510
epidermolysis bullosa simplex generalized type,DOID:0080511
Meier-Gorlin syndrome 1,DOID:0080512
Meier-Gorlin syndrome 2,DOID:0080513
Meier-Gorlin syndrome 3,DOID:0080514
Meier-Gorlin syndrome 4,DOID:0080515
Meier-Gorlin syndrome 5,DOID:0080516
Meier-Gorlin syndrome 6,DOID:0080517
Martsolf syndrome,DOID:0111586
Gordon Holmes syndrome,DOID:0111587
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,DOID:0111584
carnitine-acylcarnitine translocase deficiency,DOID:0111585
hereditary arterial and articular multiple calcification syndrome,DOID:0111582
carboxypeptidase N deficiency,DOID:0111583
Behr syndrome,DOID:0111580
C syndrome,DOID:0111581
Greenberg dysplasia,DOID:0111588
panniculitis,DOID:1526
Norrie disease,DOID:0060844
neurilemmomatosis,
junctional epidermolysis bullosa,DOID:3209
Leber congenital amaurosis 15,DOID:0110189
Leber congenital amaurosis 14,DOID:0110188
acute kidney failure,DOID:3021
Charcot-Marie-Tooth disease axonal type 2Z,DOID:0110181
Charcot-Marie-Tooth disease axonal type 2CC,DOID:0110180
Charcot-Marie-Tooth disease type 4C,DOID:0110183
Charcot-Marie-Tooth disease axonal type 2C,DOID:0110182
Charcot-Marie-Tooth disease type 4A,DOID:0110185
Charcot-Marie-Tooth disease type 4J,DOID:0110184
Charcot-Marie-Tooth disease type 4K,DOID:0110187
familial adult myoclonic epilepsy 5,DOID:0111691
Hermansky-Pudlak syndrome 7,DOID:0060545
dilated cardiomyopathy,DOID:12930
mitochondrial complex III deficiency nuclear type 8,DOID:0080117
spermatogenic failure 3,DOID:0070168
spermatogenic failure 8,DOID:0070169
hereditary sensory and autonomic neuropathy type 1,DOID:0070162
spermatogenic failure 21,DOID:0070163
hereditary sensory and autonomic neuropathy type 2,DOID:0070161
spermatogenic failure 20,DOID:0070166
spermatogenic failure 6,DOID:0070167
autosomal dominant nonsyndromic deafness 13,DOID:0110545
retinitis pigmentosa 54,DOID:0110364
retinitis pigmentosa 38,DOID:0110367
retinitis pigmentosa 75,DOID:0110361
retinitis pigmentosa 39,DOID:0110360
complement component 3 deficiency,DOID:8354
epithelioid malignant peripheral nerve sheath tumor,DOID:8353
hypohidrosis,DOID:11155
anhidrosis,DOID:11156
lymphedema-distichiasis syndrome,DOID:0111509
coronin-1A deficiency,DOID:0060019
X-linked severe combined immunodeficiency,DOID:0060013
Omenn syndrome,DOID:0060010
uveal epithelioid cell melanoma,DOID:7040
extrinsic allergic alveolitis,DOID:841
isolated microphthalmia 3,DOID:0060842
major depressive disorder,DOID:1470
lymphangioma,DOID:1475
aggressive periodontitis,DOID:1474
familial adult myoclonic epilepsy 6,DOID:0111696
Hermansky-Pudlak syndrome 6,DOID:0060544
secondary hypertrophic osteoarthropathy,DOID:10393
nutrition disease,DOID:374
coronary artery vasospasm,DOID:11840
paralytic poliomyelitis,DOID:0050515
small intestine carcinoma,DOID:4907
Greig cephalopolysyndactyly syndrome,DOID:14761
pancreatic carcinoma,DOID:4905
brachydactyly type B1,DOID:0110969
brachydactyly type A2,DOID:0110965
brachydactyly type A1,DOID:0110964
atypical Gaucher's disease due to saposin c deficiency,DOID:0110961
Gaucher's disease perinatal lethal,DOID:0110960
iris disease,DOID:240
biliary tract cancer,DOID:4607
bile duct cancer,DOID:4606
congenital fibrosis of the extraocular muscles,DOID:0080143
uterine corpus endometrial carcinoma,DOID:0050939
breast lobular carcinoma,DOID:0050938
ovarian clear cell carcinoma,DOID:0050934
ovarian serous carcinoma,DOID:0050933
mosaic variegated aneuploidy syndrome 2,DOID:0080142
pseudohypoparathyroidism type IB,DOID:0080222
renal oncocytoma,DOID:6245
multiple epiphyseal dysplasia 1,DOID:0070303
multiple epiphyseal dysplasia 4,DOID:0070300
multiple epiphyseal dysplasia 6,DOID:0070301
apocrine sweat gland cancer,DOID:4934
apocrine carcinoma,DOID:4933
nasal cavity carcinoma,DOID:4931
autosomal recessive intellectual developmental disorder 61,DOID:0080239
pulmonary sarcoidosis,DOID:13406
autosomal dominant intellectual developmental disorder 46,DOID:0080237
amyotrophic lateral sclerosis type 23,DOID:0080225
autosomal dominant intellectual developmental disorder 50,DOID:0080233
autosomal dominant intellectual developmental disorder 51,DOID:0080232
alexia,DOID:13417
isolated microphthalmia 7,DOID:0060838
hereditary spherocytosis type 2,DOID:0110917
hepatic encephalopathy,DOID:13413
Griscelli syndrome,DOID:0060831
thyroid gland Hurthle cell carcinoma,DOID:8161
Griscelli syndrome type 2,DOID:0060833
Griscelli syndrome type 1,DOID:0060832
isolated microphthalmia 6,DOID:0060835
autosomal dominant intellectual developmental disorder 53,DOID:0080228
isolated microphthalmia 5,DOID:0060837
absence epilepsy,DOID:0070309
cervix carcinoma,DOID:2893
proteinuria,DOID:576
sensorineural hearing loss,DOID:10003
nerve compression syndrome,DOID:573
fundus dystrophy,DOID:8501
hereditary spastic paraplegia 46,DOID:0110798
hereditary spastic paraplegia 47,DOID:0110799
hereditary spastic paraplegia 42,DOID:0110794
hereditary spastic paraplegia 43,DOID:0110795
hereditary spastic paraplegia 44,DOID:0110796
hereditary spastic paraplegia 45,DOID:0110797
hereditary spastic paraplegia 39,DOID:0110790
hereditary spastic paraplegia 3A,DOID:0110791
hereditary spastic paraplegia 4,DOID:0110792
sweat gland cancer,DOID:2095
COACH syndrome,DOID:0111589
dry eye syndrome,DOID:10140
"Hodgkin's lymphoma, nodular sclerosis",DOID:8838
dilated cardiomyopathy 1C,DOID:0110423
dilated cardiomyopathy 1D,DOID:0110426
dilated cardiomyopathy 1V,DOID:0110427
dilated cardiomyopathy 1CC,DOID:0110424
dilated cardiomyopathy 1A,DOID:0110425
papilledema,DOID:146
Sjogren's syndrome,DOID:12894
keratoconjunctivitis sicca,DOID:12895
enhanced S-cone syndrome,DOID:0090059
dystonia 27,DOID:0090050
dystonia 24,DOID:0090052
episodic kinesigenic dyskinesia 1,DOID:0090053
dystonia 25,DOID:0090055
dystonia 12,DOID:0090056
X-linked dystonia-parkinsonism,DOID:0090057
childhood optic nerve glioma,DOID:6576
myxopapillary ependymoma,DOID:5075
high grade ependymoma,DOID:5074
subependymal giant cell astrocytoma,DOID:5077
mixed glioma,DOID:5076
ganglioglioma,DOID:5078
disease,DOID:4
disease of anatomical entity,DOID:7
hypopituitarism,DOID:9406
epididymitis,DOID:9402
acute myocardial infarction,DOID:9408
diabetes insipidus,DOID:9409
retinitis pigmentosa 13,DOID:0110403
multiple acyl-CoA dehydrogenase deficiency,DOID:0060358
microcephalic osteodysplastic primordial dwarfism type II,DOID:0060609
Stormorken syndrome,DOID:0060354
amyotrophic lateral sclerosis type 22,DOID:0060355
Vici syndrome,DOID:0060356
chylomicron retention disease,DOID:0060357
adenine phosphoribosyltransferase deficiency,DOID:0060350
mitochondrial complex III deficiency nuclear type 2,DOID:0060351
Kleefstra syndrome 1,DOID:0060352
acrofacial dysostosis Cincinnati type,DOID:0060353
megaloblastic anemia,DOID:13382
pernicious anemia,DOID:13381
neutropenia,DOID:1227
holoprosencephaly 4,DOID:0110880
inflammatory bowel disease 17,DOID:0110883
inflammatory bowel disease 10,DOID:0110885
entropion,DOID:12397
pathological gambling,DOID:12399
peritonitis,DOID:8283
polycythemia vera,DOID:8997
Plasmodium falciparum malaria,DOID:14067
melanotic neurilemmoma,DOID:3205
autoimmune thrombocytopenic purpura,DOID:8924
PHGDH deficiency,DOID:0050722
PSAT deficiency,DOID:0050723
ornithine translocase deficiency,DOID:0050720
tyrosinemia type I,DOID:0050726
tyrosinemia type III,DOID:0050727
strabismus,DOID:540
autosomal dominant centronuclear myopathy,DOID:0111217
distal spinal muscular atrophy type 5,DOID:0111214
distal hereditary motor neuronopathy type 8,DOID:0111215
distal hereditary motor neuronopathy type 9,DOID:0111212
distal spinal muscular atrophy type 4,DOID:0111213
distal hereditary motor neuronopathy type 2D,DOID:0111210
Friedreich ataxia 1,DOID:0111218
hypermanganesemia with dystonia 1,DOID:0080536
hypermanganesemia with dystonia 2,DOID:0080537
myxofibrosarcoma,DOID:0080534
hypermanganesemia with dystonia,DOID:0080535
Carney-Stratakis syndrome,DOID:0080533
granular corneal dystrophy 1,DOID:0080530
dedifferentiated liposarcoma,DOID:0080531
Sweeney-Cox syndrome,DOID:0080538
PEHO syndrome,DOID:0080539
episodic ataxia,DOID:963
neurofibroma,DOID:962
Charcot-Marie-Tooth disease type 4D,DOID:0110186
thoracic aortic aneurysm,DOID:14004
chronic granulomatous disease,DOID:3265
phagocyte bactericidal dysfunction,DOID:3262
spindle cell rhabdomyosarcoma,DOID:3260
hyper IgE recurrent infection syndrome 1,DOID:3261
nephrotic syndrome type 17,DOID:0080392
nephrotic syndrome type 18,DOID:0080393
nephrotic syndrome type 1,DOID:0080390
nephrotic syndrome type 9,DOID:0080391
nephrotic syndrome type 19,DOID:0080394
Charcot-Marie-Tooth disease axonal type 2K,DOID:0110167
Charcot-Marie-Tooth disease type 2E,DOID:0110165
Charcot-Marie-Tooth disease type 2D,DOID:0110164
Charcot-Marie-Tooth disease axonal type 2F,DOID:0110163
"Charcot-Marie-Tooth disease, axonal type 2W",DOID:0110162
Charcot-Marie-Tooth disease type 2R,DOID:0110161
Charcot-Marie-Tooth disease axonal type 2T,DOID:0110160
idiopathic interstitial pneumonia,DOID:2797
Charcot-Marie-Tooth disease axonal type 2P,DOID:0110169
Charcot-Marie-Tooth disease type 2Y,DOID:0110168
bullous pemphigoid,DOID:8506
alcoholic cardiomyopathy,DOID:12935
pathologic nystagmus,DOID:9650
Kearns-Sayre syndrome,DOID:12934
oculocutaneous albinism type VII,DOID:0070100
oral mucosa leukoplakia,DOID:9655
biliary atresia,DOID:13608
appendicitis,DOID:8337
autosomal dominant limb-girdle muscular dystrophy type 3,DOID:0110306
autosomal dominant limb-girdle muscular dystrophy type 1,DOID:0110305
autosomal dominant limb-girdle muscular dystrophy type 2,DOID:0110304
hypertrophic cardiomyopathy 3,DOID:0110309
"Hodgkin's lymphoma, lymphocytic depletion",DOID:8628
astroblastoma,DOID:7305
Werdnig-Hoffmann disease,DOID:13137
glomangioma,DOID:2436
autoimmune disease of gastrointestinal tract,DOID:0060031
"autoimmune disease of eyes, ear, nose and throat",DOID:0060030
autoimmune disease of peripheral nervous system,DOID:0060033
autoimmune disease of musculoskeletal system,DOID:0060032
developmental disorder of mental health,DOID:0060037
intrinsic cardiomyopathy,DOID:0060036
autoimmune disease of skin and connective tissue,DOID:0060039
specific developmental disorder,DOID:0060038
polycythemia,DOID:8432
total third-nerve palsy,DOID:10866
crescentic glomerulonephritis,DOID:13139
complement component 6 deficiency,DOID:0060299
complement component 4b deficiency,DOID:0060298
complement component 2 deficiency,DOID:0060295
cold-induced sweating syndrome,DOID:0060294
complement component 4a deficiency,DOID:0060297
oculodentodigital dysplasia,DOID:0060291
"blepharophimosis-intellectual disability syndrome, SBBYS type",DOID:0060290
X-linked chondrodysplasia punctata 1,DOID:0060292
hepatocellular carcinoma,DOID:684
liver carcinoma,DOID:686
tauopathy,DOID:680
progressive bulbar palsy,DOID:681
compartment syndrome,DOID:682
motor neuritis,DOID:683
gastric ulcer,DOID:10808
embryonal cancer,DOID:688
Crohn's disease,DOID:8778
spermatogenic failure 18,DOID:0070165
retinitis pigmentosa 28,DOID:0110365
mastocytosis,DOID:350
retinitis pigmentosa 33,DOID:0110366
retinitis pigmentosa 71,DOID:0110363
retinitis pigmentosa 58,DOID:0110362
urticaria,DOID:1555
retinitis pigmentosa 47,DOID:0110369
retinitis pigmentosa 26,DOID:0110368
familial febrile seizures 2,DOID:0111310
Werner syndrome,DOID:5688
hereditary breast ovarian cancer syndrome,DOID:5683
embryonal testis carcinoma,DOID:5680
"spondyloepimetaphyseal dysplasia, Sponastrime type",DOID:5684
autosomal recessive osteopetrosis 6,DOID:0110945
autosomal recessive osteopetrosis 4,DOID:0110944
autosomal recessive osteopetrosis 7,DOID:0110946
autosomal recessive osteopetrosis 3,DOID:0110941
autosomal recessive osteopetrosis 8,DOID:0110940
autosomal recessive osteopetrosis 2,DOID:0110943
autosomal recessive osteopetrosis 1,DOID:0110942
Waardenburg syndrome type 3,DOID:0110949
Waardenburg syndrome type 1,DOID:0110948
holoprosencephaly,DOID:4621
pityriasis rubra pilaris,DOID:9212
hydranencephaly,DOID:4626
Ollier disease,DOID:4624
colon adenoma,DOID:0050912
anaplastic astrocytoma,DOID:3078
ovarian squamous cell carcinoma,DOID:5531
developmental and epileptic encephalopathy 91,DOID:0080472
retinitis pigmentosa 69,DOID:0110410
otosclerosis,DOID:12185
rhinitis,DOID:4483
allergic rhinitis,DOID:4481
achondroplasia,DOID:4480
epidermolysis bullosa dystrophica,DOID:4959
sarcomatoid mesothelioma,DOID:4488
autosomal recessive spinocerebellar ataxia 25,DOID:0080259
autosomal recessive congenital ichthyosis 14,DOID:0080258
Meckel syndrome 13,DOID:0080253
spastic ataxia 8,DOID:0080252
erythrokeratodermia variabilis et progressiva 5,DOID:0080251
erythrokeratodermia variabilis et progressiva 4,DOID:0080250
autosomal recessive congenital ichthyosis 13,DOID:0080257
Perrault syndrome 6,DOID:0080256
Meier-Gorlin syndrome 8,DOID:0080255
orofaciodigital syndrome XVI,DOID:0080254
stereotypic movement disorder,DOID:2303
spondylolysis,DOID:2300
duodenum cancer,DOID:10021
migraine with aura,DOID:10024
kidney cortex disease,DOID:0080616
congenital secretory chloride diarrhea 1,DOID:0060296
venous insufficiency,DOID:10128
keratoconus,DOID:10126
corneal disease,DOID:10124
pigmentation disease,DOID:10123
dilated cardiomyopathy 1J,DOID:0110440
dilated cardiomyopathy 2B,DOID:0110441
dilated cardiomyopathy 1X,DOID:0110444
dilated cardiomyopathy 1KK,DOID:0110445
dilated cardiomyopathy 1DD,DOID:0110447
dilated cardiomyopathy 1HH,DOID:0110448
dilated cardiomyopathy 1M,DOID:0110449
keratosis,DOID:161
cancer,DOID:162
neuroendocrine tumor,DOID:169
Kaposi's sarcoma,DOID:8632
hypogonadotropic hypogonadism 18 with or without anosmia,DOID:0090076
hypogonadotropic hypogonadism 4 with or without anosmia,DOID:0090077
hypogonadotropic hypogonadism 8 with or without anosmia,DOID:0090074
hypogonadotropic hypogonadism 15 with or without anosmia,DOID:0090075
hypogonadotropic hypogonadism 12 with or without anosmia,DOID:0090072
hypogonadotropic hypogonadism 13 with or without anosmia,DOID:0090073
hypogonadotropic hypogonadism,DOID:0090070
hypogonadotropic hypogonadism 11 with or without anosmia,DOID:0090071
arteriovenous malformation,DOID:11294
hypogonadotropic hypogonadism 7 with or without anosmia,DOID:0090078
hypogonadotropic hypogonadism 17 with or without anosmia,DOID:0090079
amyotrophic lateral sclerosis type 2,DOID:0060194
patent ductus arteriosus,DOID:13832
Crohn's colitis,DOID:0060192
amyotrophic lateral sclerosis type 1,DOID:0060193
malignant mesothelioma,DOID:1790
pancreatic cancer,DOID:1793
Ehrlich tumor carcinoma,DOID:5050
pancreatic endocrine carcinoma,DOID:1798
islet cell tumor,DOID:1799
familial periodic paralysis,DOID:1029
acrofacial dysostosis,DOID:0060379
Parkinson's disease 15,DOID:0060372
Parkinson's disease 7,DOID:0060370
Parkinson's disease 8,DOID:0060371
Joubert syndrome with orofaciodigital defect,DOID:0060376
orofaciodigital syndrome IV,DOID:0060374
orofaciodigital syndrome V,DOID:0060375
blood coagulation disease,DOID:1247
vulva cancer,DOID:1245
globe disease,DOID:1242
leukemia,DOID:1240
cervical incompetence,DOID:9681
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1,
newborn respiratory distress syndrome,DOID:12716
marginal zone lymphoma,DOID:0050748
peripheral T-cell lymphoma,DOID:0050749
alcohol dependence,DOID:0050741
nicotine dependence,DOID:0050742
mature T-cell and NK-cell lymphoma,DOID:0050743
anaplastic large cell lymphoma,DOID:0050744
diffuse large B-cell lymphoma,DOID:0050745
mantle cell lymphoma,DOID:0050746
benign perivascular tumor,DOID:5238
malignant peripheral nerve sheath tumor,DOID:5940
hepatoerythropoietic porphyria,DOID:5230
sarcomatoid carcinoma,DOID:4015
dysgraphia,DOID:4540
auditory system disease,DOID:2742
bilirubin metabolic disorder,DOID:2741
glycogen storage disease,DOID:2747
pulmonary fibrosis,DOID:3770
narcissistic personality disorder,DOID:2745
intraventricular meningioma,DOID:3772
xanthomatosis,DOID:3345
choroidal sclerosis,DOID:980
alopecia,DOID:987
alopecia areata,DOID:986
mitral valve prolapse,DOID:988
Fanconi anemia complementation group B,DOID:0111098
maturity-onset diabetes of the young type 1,DOID:0111099
Fanconi anemia complementation group R,DOID:0111090
Fanconi anemia complementation group I,DOID:0111091
Fanconi anemia complementation group P,DOID:0111092
Fanconi anemia complementation group Q,DOID:0111093
Fanconi anemia complementation group N,DOID:0111094
Fanconi anemia complementation group A,DOID:0111095
Fanconi anemia complementation group O,DOID:0111096
Fanconi anemia complementation group J,DOID:0111097
partial lipodystrophy,DOID:0080299
CLOVES syndrome,DOID:0080351
embryonal rhabdomyosarcoma,DOID:3246
rhabdomyosarcoma,DOID:3247
aspiration pneumonitis,DOID:3240
mitral valve insufficiency,DOID:11502
Lafora disease,DOID:3534
Unverricht-Lundborg syndrome,DOID:3535
primary autosomal recessive microcephaly 6,DOID:0070290
primary autosomal recessive microcephaly 4,DOID:0070291
primary autosomal recessive microcephaly 9,DOID:0070292
primary autosomal recessive microcephaly 2 with or without cortical malformations,DOID:0070293
primary autosomal recessive microcephaly 10,DOID:0070294
primary autosomal dominant microcephaly 18,DOID:0070295
primary autosomal recessive microcephaly,DOID:0070296
primary microcephaly,DOID:0070297
multiple epiphyseal dysplasia 2,DOID:0070298
multiple epiphyseal dysplasia 5,DOID:0070299
Bartter disease type 5,DOID:0110147
Bartter disease type 4b,DOID:0110146
Bardet-Biedl syndrome 19,DOID:0110141
Bardet-Biedl syndrome 18,DOID:0110140
Bartter disease type 2,DOID:0110143
Bartter disease type 1,DOID:0110142
Alzheimer's disease 4,DOID:0110040
autosomal recessive nonsyndromic deafness 100,DOID:0111638
autosomal recessive nonsyndromic deafness 109,DOID:0111639
autosomal recessive nonsyndromic deafness 99,DOID:0111634
autosomal recessive nonsyndromic deafness 57,DOID:0111635
autosomal recessive nonsyndromic deafness 113,DOID:0111636
autosomal recessive nonsyndromic deafness 112,DOID:0111637
familial erythrocytosis 8,DOID:0111630
familial erythrocytosis 7,DOID:0111631
Plasmodium vivax malaria,DOID:12978
mitochondrial complex III deficiency nuclear type 9,DOID:0080118
mitochondrial DNA depletion syndrome 1,DOID:0080119
congenital nongoitrous hypothyroidism 6,DOID:0070128
autosomal recessive cutis laxa type IID,DOID:0070129
congenital nongoitrous hypothyroidism 1,DOID:0070126
congenital nongoitrous hypothyroidism 2,DOID:0070124
congenital nongoitrous hypothyroidism 5,DOID:0070125
Meckel syndrome 8,DOID:0070122
congenital nongoitrous hypothyroidism 4,DOID:0070123
Meckel syndrome 6,DOID:0070120
Meckel syndrome 7,DOID:0070121
Leber congenital amaurosis 6,DOID:0110329
hypertrophic cardiomyopathy 25,DOID:0110328
patent foramen ovale,DOID:13620
hypertrophic cardiomyopathy 17,DOID:0110323
favism,DOID:13628
hypertrophic cardiomyopathy 26,DOID:0110327
hypertrophic cardiomyopathy 20,DOID:0110326
spinocerebellar ataxia type 35,DOID:0050982
spinocerebellar ataxia type 36,DOID:0050983
B cell deficiency,DOID:2115
coccidiosis,DOID:2113
spinocerebellar ataxia type 34,DOID:0050981
spinocerebellar ataxia type 40,DOID:0050986
spinocerebellar ataxia type 37,DOID:0050984
Sertoli cell-only syndrome,DOID:0050457
essential hypertension,DOID:10825
malignant hypertension,DOID:10824
esophageal disease,DOID:6050
lymphoid leukemia,DOID:1037
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1,DOID:0111385
echinococcosis,DOID:1496
cystic echinococcosis,DOID:1495
pyridoxine deficiency anemia,DOID:8455
Crigler-Najjar syndrome,DOID:3803
chromosome 3q29 microdeletion syndrome,DOID:0060419
choline deficiency disease,DOID:8456
3p deletion syndrome,DOID:0060417
"chromosome 22q11.2 deletion syndrome, distal",DOID:0060413
chromosome 1q41-q42 deletion syndrome,DOID:0060412
chromosome 1q21.1 deletion syndrome,DOID:0060411
chromosome 1p36 deletion syndrome,DOID:0060410
hereditary nonpolyposis colorectal cancer type 5,DOID:0070272
asphyxia neonatorum,DOID:11088
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance,DOID:0080311
hereditary nonpolyposis colorectal cancer type 7,DOID:0070276
primary autosomal recessive microcephaly 15,DOID:0070277
small cell carcinoma,DOID:0050685
cell type cancer,DOID:0050687
organ system cancer,DOID:0050686
Borjeson-Forssman-Lehmann syndrome,DOID:0050681
Boomerang dysplasia,DOID:0050680
Bothnia retinal dystrophy,DOID:0050683
hereditary nonpolyposis colorectal cancer type 4,DOID:0070275
brachydactyly-syndactyly syndrome,DOID:0050689
transient global amnesia,DOID:13027
retinopathy of prematurity,DOID:13025
epithelioid leiomyosarcoma,DOID:5264
primary autosomal recessive microcephaly 7,DOID:0070278
familial hemophagocytic lymphohistiocytosis 3,DOID:0110923
filarial elephantiasis,DOID:12211
nemaline myopathy 3,DOID:0110927
Lewy body dementia,DOID:12217
familial hemophagocytic lymphohistiocytosis 5,DOID:0110925
oligohydramnios,DOID:12215
nemaline myopathy 9,DOID:0110929
nemaline myopathy 2,DOID:0110928
cataract 45,DOID:0110262
myxoid leiomyosarcoma,DOID:5268
cataract 33,DOID:0110264
cataract 31 multiple types,DOID:0110265
spinocerebellar ataxia type 23,DOID:0050973
spinocerebellar ataxia type 21,DOID:0050972
spinocerebellar ataxia type 19/22,DOID:0050970
spinocerebellar ataxia type 28,DOID:0050977
cataract 9 multiple types,DOID:0110266
spinocerebellar ataxia type 26,DOID:0050975
cataract 44,DOID:0110267
testicular germ cell cancer,DOID:5557
myelodysplastic/myeloproliferative neoplasm,DOID:4972
myelofibrosis,DOID:4971
prosopagnosia,DOID:4970
lymphedema,DOID:4977
nephrotic syndrome type 15,DOID:0080271
autosomal dominant nonsyndromic deafness 34,DOID:0080270
polycystic kidney disease 5,DOID:0080273
nephrotic syndrome type 16,DOID:0080272
Joubert syndrome 30,DOID:0080275
multiple mitochondrial dysfunctions syndrome 5,DOID:0080274
Joubert syndrome 31,DOID:0080277
Joubert syndrome 33,DOID:0080279
Joubert syndrome 32,DOID:0080278
osteochondrosis,DOID:8125
pre-eclampsia,DOID:10591
Charcot-Marie-Tooth disease,DOID:10595
obstructive lung disease,DOID:2320
gastroenteritis,DOID:2326
internuclear ophthalmoplegia,DOID:538
ophthalmoplegia,DOID:539
thymus gland disease,DOID:533
eyelid disease,DOID:530
cerebellum cancer,DOID:4205
sleep disorder,DOID:535
dysplastic nevus syndrome,DOID:10041
Fraser syndrome 2,DOID:0111407
Fraser syndrome 3,DOID:0111406
Fraser syndrome 1,DOID:0111405
Jalili syndrome,DOID:0111404
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations,DOID:0111403
mucopolysaccharidosis type IIID,DOID:0111402
congenital dyserythropoietic anemia type II,DOID:0111401
congenital dyserythropoietic anemia type IV,DOID:0111400
exudative vitreoretinopathy 5,DOID:0111408
rubella,DOID:8781
spermatogenic failure 11,DOID:0070180
spermatogenic failure 23,DOID:0070181
spermatogenic failure 13,DOID:0070182
pancreas disease,DOID:26
spermatogenic failure 16,DOID:0070184
endocrine system disease,DOID:28
Y-linked spermatogenic failure 2,DOID:0070187
retinitis pigmentosa 42,DOID:0110386
GABA aminotransferase deficiency,DOID:0060174
succinic semialdehyde dehydrogenase deficiency,DOID:0060175
gamma-amino butyric acid metabolism disorder,DOID:0060176
familial hypercholesterolemia,DOID:13810
generalized epilepsy with febrile seizures plus,DOID:0060170
Timothy syndrome,DOID:0060173
autosomal recessive nonsyndromic deafness 12,DOID:0110467
autosomal recessive nonsyndromic deafness 103,DOID:0110464
autosomal recessive nonsyndromic deafness 104,DOID:0110465
familial hemiplegic migraine,DOID:0060178
Renpenning syndrome,DOID:0060179
dilated cardiomyopathy 2A,DOID:0110460
X-linked dilated cardiomyopathy,DOID:0110461
Silver-Russell syndrome,DOID:14681
diastrophic dysplasia,DOID:14687
Axenfeld-Rieger syndrome,DOID:14686
microcephaly and chorioretinopathy 3,DOID:0080107
persistent generalized lymphadenopathy,DOID:0060314
orofaciodigital syndrome I,DOID:0060316
acute promyelocytic leukemia,DOID:0060318
cardiac arrest,DOID:0060319
pelvic inflammatory disease,DOID:1003
pineal gland cancer,DOID:5032
choreaacanthocytosis,DOID:0050766
Armfield syndrome,DOID:0050764
neuroacanthocytosis,DOID:0050765
adenylosuccinase lyase deficiency,DOID:0050762
ARC syndrome,DOID:0050763
X-linked myopathy with excessive autophagy,DOID:0050760
mucolipidosis,DOID:0080488
"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",
lung adenocarcinoma,DOID:3910
autoimmune uveitis,DOID:0040088
sudden infant death syndrome,DOID:9007
psoriatic arthritis,DOID:9008
spondyloepiphyseal dysplasia with congenital joint dislocations,DOID:0050813
progeria,DOID:3911
Compton-North congenital myopathy,DOID:0080101
lung squamous cell carcinoma,DOID:3907
lung carcinoma,DOID:3905
gastrointestinal system disease,DOID:77
typhoid fever,DOID:13258
Lesch-Nyhan syndrome,DOID:1919
diarrhea,DOID:13250
Conn's syndrome,DOID:12028
epidermolytic hyperkeratosis,DOID:4603
neurofibrosarcoma,DOID:3512
Bardet-Biedl syndrome 7,DOID:0110129
Bardet-Biedl syndrome 6,DOID:0110128
Bardet-Biedl syndrome 1,DOID:0110123
Axenfeld-Rieger syndrome type 3,DOID:0110122
Axenfeld-Rieger syndrome type 1,DOID:0110120
Bardet-Biedl syndrome 5,DOID:0110127
Bardet-Biedl syndrome 4,DOID:0110126
Bardet-Biedl syndrome 3,DOID:0110125
Bardet-Biedl syndrome 2,DOID:0110124
neonatal diabetes,DOID:11717
gestational diabetes,DOID:11714
autosomal recessive spinocerebellar ataxia 8,DOID:0111618
combined D-2- and L-2-hydroxyglutaric aciduria,DOID:0111619
autosomal recessive spinocerebellar ataxia 23,DOID:0111613
autosomal recessive spinocerebellar ataxia 4,DOID:0111611
autosomal recessive spinocerebellar ataxia 27,DOID:0111616
autosomal recessive spinocerebellar ataxia 22,DOID:0111614
autosomal recessive spinocerebellar ataxia 24,DOID:0111615
multiple congenital anomalies-hypotonia-seizures syndrome 1,DOID:0080138
multiple congenital anomalies-hypotonia-seizures syndrome 2,DOID:0080139
Sengers syndrome,DOID:0080132
multiple mitochondrial dysfunctions syndrome 1,DOID:0080133
mitochondrial DNA depletion syndrome 12a,DOID:0080130
mitochondrial DNA depletion syndrome 13,DOID:0080131
multiple mitochondrial dysfunctions syndrome 4,DOID:0080136
multiple endocrine neoplasia type 4,DOID:0080137
multiple mitochondrial dysfunctions syndrome 2,DOID:0080134
multiple mitochondrial dysfunctions syndrome 3,DOID:0080135
hypotrichosis 2,DOID:0110699
hypotrichosis 1,DOID:0110698
brain cancer,DOID:1319
peroxisome biogenesis disorder 6A,DOID:0080481
pancreatic serous cystic neoplasm,DOID:3919
thyroid gland medullary carcinoma,DOID:3973
autosomal recessive cutis laxa type IIA,DOID:0070134
peroxisome biogenesis disorder 12A,DOID:0080486
schistosomiasis,DOID:1395
ocular cancer,DOID:2174
"46,XY sex reversal",DOID:14448
stomach carcinoma,DOID:5517
peroxisome biogenesis disorder 13A,DOID:0080487
epithelioid inflammatory myofibroblastic sarcoma,DOID:0080372
ectodermal dysplasia 4,DOID:0111658
carpal tunnel syndrome,DOID:12169
ectodermal dysplasia 9,DOID:0111656
ectodermal dysplasia 11B,DOID:0111654
encephalomyelitis,DOID:640
kuru,DOID:648
hypobetalipoproteinemia,DOID:1390
ectodermal dysplasia 15,DOID:0111651
hypomyelinating leukodystrophy 4,DOID:0060789
hypomyelinating leukodystrophy 10,DOID:0060788
hypomyelinating leukodystrophy 2,DOID:0060787
hypomyelinating leukodystrophy,DOID:0060786
adult-onset autosomal dominant demyelinating leukodystrophy,DOID:0060785
"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3",DOID:0060783
EEC syndrome,DOID:0060782
congenital secretory sodium diarrhea 3,DOID:0060781
congenital diarrhea 6,DOID:0060780
lower respiratory tract disease,DOID:0050161
restrictive cardiomyopathy,DOID:397
tuberculosis,DOID:399
pemphigus,DOID:9182
partial central choroid dystrophy,DOID:9822
chromosome 22q11.2 microduplication syndrome,DOID:0060436
autosomal recessive nonsyndromic deafness 74,DOID:0110523
lysinuric protein intolerance,DOID:0060439
Cole-Carpenter syndrome,DOID:0060438
ganglioneuroma,DOID:4817
autosomal recessive nonsyndromic deafness 7,DOID:0110520
radioulnar synostosis,DOID:9827
generalized anxiety disorder,DOID:14320
autosomal dominant intellectual developmental disorder 47,DOID:0080238
"blepharophimosis, ptosis, and epicanthus inversus syndrome",DOID:14778
Marfan syndrome,DOID:14323
brittle cornea syndrome 1,DOID:14775
cartilage-hair hypoplasia,DOID:14773
inflammatory bowel disease 25,DOID:0110909
carotid stenosis,DOID:13001
primary biliary cholangitis,DOID:12236
Waardenburg's syndrome,
frontotemporal dementia,DOID:9255
mast-cell leukemia,DOID:9254
colorectal cancer,DOID:9256
acrocallosal syndrome,DOID:9250
gastrointestinal stromal tumor,DOID:9253
amino acid metabolic disorder,DOID:9252
autosomal dominant intellectual developmental disorder 48,DOID:0080235
Clark-Baraitser syndrome,DOID:0080234
Miura type epiphyseal chondrodysplasia,DOID:0070316
VIPoma,DOID:5574
autosomal dominant intellectual developmental disorder 52,DOID:0080231
gastrinoma,DOID:5577
Beckwith-Wiedemann syndrome,DOID:5572
autosomal dominant intellectual developmental disorder 54,DOID:0080230
atrial fibrillation,DOID:0060224
3MC syndrome,DOID:0060225
isolated microphthalmia 2,DOID:0060839
optic nerve glioma,DOID:4992
Camurati-Engelmann disease,DOID:4997
trichorhinophalangeal syndrome type II,DOID:4998
Scheie syndrome,DOID:0060222
agraphia,DOID:0060223
Parkinson's disease 20,DOID:0060898
late onset Parkinson's disease,DOID:0060892
Parkinson's disease 19A,DOID:0060891
ectopic Cushing syndrome,DOID:0060890
Parkinson's disease 17,DOID:0060897
Parkinson's disease 23,DOID:0060896
Parkinson's disease 4,DOID:0060895
early-onset Parkinson's disease,DOID:0060894
"deafness-intellectual disability, Martin-Probst type syndrome",DOID:0060830
autosomal dominant intellectual developmental disorder 45,DOID:0080236
parasitic helminthiasis infectious disease,DOID:883
hyperglycemia,DOID:4195
glucose metabolism disease,DOID:4194
oculopharyngeal muscular dystrophy,DOID:11719
Griscelli syndrome type 3,DOID:0060834
spinocerebellar ataxia type 8,DOID:0050959
spinocerebellar ataxia type 7,DOID:0050958
hereditary ataxia,DOID:0050951
autosomal recessive cerebellar ataxia,DOID:0050950
X-linked hereditary ataxia,DOID:0050953
spastic ataxia,DOID:0050952
prediabetes syndrome,DOID:11716
spinocerebellar ataxia type 1,DOID:0050954
spinocerebellar ataxia type 4,DOID:0050957
spinocerebellar ataxia type 6,DOID:0050956
rosacea,DOID:8881
arteriosclerotic cardiovascular disease,DOID:2348
arteriosclerosis,DOID:2349
craniosynostosis,DOID:2340
endometrial stromal sarcoma,DOID:4226
pyoderma,DOID:4223
essential tremor 1,DOID:0111428
branchiootorenal syndrome 2,DOID:0111424
restrictive cardiomyopathy 3,DOID:0111427
familial GPIHBP1 deficiency,DOID:0111420
branchiootorenal syndrome 1,DOID:0111423
familial lipase maturation factor 1 deficiency,DOID:0111422
squamous cell neoplasm,DOID:3168
malignant spindle cell melanoma,DOID:3162
skin benign neoplasm,DOID:3165
diabetic angiopathy,DOID:11713
thyroid crisis,DOID:12837
quadriplegia,DOID:12835
tetanus,DOID:11338
pneumocystosis,DOID:11339
sarcoidosis,DOID:11335
erysipelas,DOID:11330
diabetic polyneuropathy,DOID:12785
migraine without aura,DOID:12783
microcytic anemia,DOID:11252
typhus,DOID:11256
follicular dendritic cell sarcoma,DOID:6262
subcorneal pustular dermatosis,DOID:8508
bullous skin disease,DOID:8502
acquired metabolic disease,DOID:0060158
organic acidemia,DOID:0060159
autosomal recessive nonsyndromic deafness 3,DOID:0110488
autosomal recessive nonsyndromic deafness 30,DOID:0110489
impetigo,DOID:8504
dermatitis herpetiformis,DOID:8505
salivary gland cancer,DOID:8850
chronic atrial and intestinal dysrhythmia,DOID:0060339
3-methylglutaconic aciduria,DOID:0060336
CEDNIK syndrome,DOID:0060337
transient neonatal diabetes mellitus,DOID:0060334
autosomal dominant sideroblastic anemia 4,DOID:0060335
mitochondrial complex V (ATP synthase) deficiency nuclear type 3,DOID:0060332
mitochondrial complex V (ATP synthase) deficiency nuclear type 4,DOID:0060333
Rapp-Hodgkin syndrome,DOID:0060330
mitochondrial complex V (ATP synthase) deficiency nuclear type 2,DOID:0060331
proximal symphalangism,DOID:0050788
thyroid adenoma,DOID:2891
neuronal ceroid lipofuscinosis 3,DOID:0110731
primary progressive multiple sclerosis,DOID:0050784
fibrolamellar carcinoma,DOID:5015
open-angle glaucoma,DOID:1067
cystinosis,DOID:1064
Fanconi syndrome,DOID:1062
Hartnup disease,DOID:1060
juvenile polyposis syndrome,DOID:0050787
pulmonary blastoma,DOID:4765
Opitz-GBBB syndrome,
pleuropulmonary blastoma,DOID:4769
Zollinger-Ellison syndrome,DOID:0050782
enterocele,DOID:1283
neurodegenerative disease,DOID:1289
leishmaniasis,DOID:9065
Ritter's disease,DOID:9063
orofaciodigital syndrome,DOID:4501
Tangier disease,DOID:1388
Hermansky-Pudlak syndrome,DOID:3753
protein C deficiency,DOID:3756
antithrombin III deficiency,DOID:3755
Laurence-Moon syndrome,DOID:1930
cutaneous porphyria,DOID:13271
erythropoietic protoporphyria,DOID:13270
dysostosis,DOID:1934
atherosclerosis,DOID:1936
thymic carcinoma,DOID:3284
diabetic cataract,DOID:13328
congenital disorder of glycosylation type IIb,DOID:0070254
congenital disorder of glycosylation type IIc,DOID:0070255
congenital disorder of glycosylation type IId,DOID:0070256
GM1 gangliosidosis type 3,DOID:0080489
cold-induced sweating syndrome 2,DOID:0080330
X-linked Emery-Dreifuss muscular dystrophy 6,DOID:0070251
bicuspid aortic valve disease,DOID:0080332
aortic valve disease 1,DOID:0080333
peroxisome biogenesis disorder 7A,DOID:0080482
peroxisome biogenesis disorder 8A,DOID:0080483
peroxisome biogenesis disorder 5A,DOID:0080480
congenital disorder of glycosylation type IIf,DOID:0070258
congenital disorder of glycosylation type IIg,DOID:0070259
peroxisome biogenesis disorder 10A,DOID:0080484
peroxisome biogenesis disorder 11A,DOID:0080485
atrial heart septal defect 2,DOID:0110107
atrial heart septal defect 4,DOID:0110109
atrial heart septal defect 3,DOID:0110108
congenital nystagmus,DOID:9649
primary hyperoxaluria type 1,DOID:0111670
primary hyperoxaluria type 2,DOID:0111671
primary hyperoxaluria type 3,DOID:0111672
Saul-Wilson syndrome,DOID:0111673
intellectual developmental disorder with short stature and behavioral abnormalities,DOID:0111674
high molecular weight kininogen deficiency,DOID:0111676
familial benign fleck retina,DOID:0111677
hereditary folate malabsorption,DOID:0111678
glutamate formiminotransferase deficiency,DOID:0111679
adrenocorticotropic hormone deficiency,DOID:0080150
medium chain acyl-CoA dehydrogenase deficiency,DOID:0080153
very long chain acyl-CoA dehydrogenase deficiency,DOID:0080155
X-linked adrenal hypoplasia congenita,DOID:0080156
Cryptococcal meningitis,DOID:0080159
ovarian dysgenesis 5,DOID:0080497
phosphorus metabolism disease,DOID:2485
ovary epithelial cancer,DOID:2152
malignant ovarian surface epithelial-stromal neoplasm,DOID:2151
ovarian germ cell cancer,DOID:2156
onchocerciasis,DOID:11678
brachydactyly type E2,DOID:0110976
tooth and nail syndrome,DOID:6678
autosomal recessive spinocerebellar ataxia 18,DOID:0080042
abducens nerve palsy,DOID:10865
partial third-nerve palsy,DOID:10864
endocarditis,DOID:10314
adrenal cortex cancer,DOID:660
Klippel-Feil syndrome 4,DOID:0080592
myositis ossificans,DOID:668
orofacial cleft 6,DOID:0080593
hyper IgE recurrent infection syndrome 2,DOID:0080594
hyper IgE recurrent infection syndrome 3,DOID:0080595
hyper IgE recurrent infection syndrome 4,DOID:0080596
Kleefstra syndrome,DOID:0080597
persistent fetal circulation syndrome,DOID:13042
Coronavirus infectious disease,DOID:0080599
Reis-Bucklers corneal dystrophy,DOID:0060453
Meesmann corneal dystrophy,DOID:0060451
posterior polymorphous corneal dystrophy,DOID:0060457
Schnyder corneal dystrophy,DOID:0060456
Thiel-Behnke corneal dystrophy,DOID:0060455
subepithelial mucinous corneal dystrophy,DOID:0060454
chromosome 3q29 microduplication syndrome,DOID:0060459
demyelinating polyneuropathy,DOID:5214
ovarian hyperstimulation syndrome,DOID:5425
renal osteodystrophy,DOID:13068
cerebral cavernous malformation 1,DOID:0080491
neurodegeneration with brain iron accumulation 2a,DOID:0110735
parathyroid carcinoma,DOID:1540
head and neck carcinoma,DOID:1542
dilated cardiomyopathy 1AA,DOID:0110428
hemophilia B,DOID:12259
citrullinemia,DOID:9273
ornithine carbamoyltransferase deficiency,DOID:9271
alkaptonuria,DOID:9270
tyrosinemia,DOID:9275
hyperlysinemia,DOID:9274
hyperhomocysteinemia,DOID:9279
hyperargininemia,DOID:9278
nervous system disease,DOID:863
vasculitis,DOID:865
vein disease,DOID:866
cholesteatoma,DOID:869
restless legs syndrome,DOID:0050425
familial adenomatous polyposis,DOID:0050424
xeroderma pigmentosum,DOID:0050427
Stevens-Johnson syndrome,DOID:0050426
Hailey-Hailey disease,DOID:0050429
nonepidermolytic palmoplantar keratoderma,DOID:0050428
West Nile encephalitis,DOID:2365
neuroaxonal dystrophy,DOID:2367
macrocytic anemia,DOID:2361
cranial nerve malignant neoplasm,DOID:2815
gangliosidosis,DOID:2368
coronary restenosis,DOID:4247
kidney sarcoma,DOID:4242
Gerstmann-Straussler-Scheinker syndrome,DOID:4249
coronary stenosis,DOID:4248
progressive myoclonus epilepsy 6,DOID:0111449
progressive myoclonus epilepsy 1B,DOID:0111448
optic atrophy 9,DOID:0111442
optic atrophy 1,DOID:0111441
progressive myoclonus epilepsy 7,DOID:0111447
progressive myoclonus epilepsy 3,DOID:0111446
progressive myoclonus epilepsy 10,DOID:0111445
progressive myoclonus epilepsy 4,DOID:0111444
Perlman syndrome,DOID:0060476
hyperlipoproteinemia type III,DOID:3145
cutis laxa,DOID:3144
larynx cancer,DOID:2596
aortic valve disease,DOID:62
mitral valve disease,DOID:61
muscle tissue disease,DOID:66
connective tissue disease,DOID:65
bladder diverticulum,DOID:11353
autosomal dominant intellectual developmental disorder 39,DOID:0070069
autosomal dominant intellectual developmental disorder 38,DOID:0070068
White-Sutton syndrome,DOID:0070067
autosomal dominant intellectual developmental disorder 36,DOID:0070066
autosomal dominant intellectual developmental disorder 35,DOID:0070065
autosomal dominant intellectual developmental disorder 34,DOID:0070064
autosomal dominant intellectual developmental disorder 33,DOID:0070063
Arboleda-Tham syndrome,DOID:0070062
autosomal dominant intellectual developmental disorder 31,DOID:0070061
autosomal dominant intellectual developmental disorder 30,DOID:0070060
congenital stationary night blindness 1G,DOID:0110714
congenital stationary night blindness autosomal dominant 3,DOID:0110715
Warburg micro syndrome 1,DOID:0110716
Warburg micro syndrome 2,DOID:0110717
hypotrichosis 13,DOID:0110710
congenital hypotrichosis with juvenile macular dystrophy,DOID:0110711
Oguchi disease-1,DOID:0110712
Oguchi disease-2,DOID:0110713
Warburg micro syndrome 3,DOID:0110718
Warburg micro syndrome 4,DOID:0110719
apraxia,DOID:0060135
monocytic leukemia,DOID:8527
autosomal dominant nocturnal frontal lobe epilepsy 5,DOID:0060686
autosomal dominant nocturnal frontal lobe epilepsy 3,DOID:0060684
autosomal dominant nocturnal frontal lobe epilepsy 4,DOID:0060685
autosomal dominant nocturnal frontal lobe epilepsy 1,DOID:0060682
autosomal dominant nocturnal frontal lobe epilepsy,DOID:0060681
arteriovenous malformations of the brain,DOID:0060688
atrichia with papular lesions,DOID:0060689
liver cancer,DOID:3571
cystathioninuria,DOID:0090142
brachyolmia-amelogenesis imperfecta syndrome,DOID:0090143
cortisone reductase deficiency 2,DOID:0090140
cortisone reductase deficiency 1,DOID:0090141
Donnai-Barrow syndrome,DOID:0090144
dopamine beta-hydroxylase deficiency,DOID:0090145
tongue squamous cell carcinoma,DOID:0050865
cryptosporidiosis,DOID:1733
chronic lymphocytic leukemia,DOID:1040
duodenal benign neoplasm,DOID:1737
fasciitis,DOID:9598
intestinal disease,DOID:5295
Marshall-Smith syndrome,DOID:0050858
Muckle-Wells syndrome,DOID:0050854
renal fibrosis,DOID:0050855
oppositional defiant disorder,DOID:0050856
Perrault syndrome,DOID:0050857
diabetic encephalopathy,DOID:0050850
glomerulosclerosis,DOID:0050851
fibrosarcoma,DOID:3355
variant Creutzfeldt-Jakob disease,DOID:5435
scrapie,DOID:5434
cervix endometrial stromal tumor,DOID:4521
solitary median maxillary central incisor,DOID:0111380
IVIC syndrome,DOID:0111381
ischiocoxopodopatellar syndrome,DOID:0111382
autosomal dominant keratitis,DOID:0111383
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3,DOID:0111386
familial isolated hypoparathyroidism,DOID:0111387
mucopolysaccharidosis Ih/s,DOID:0111389
glucocorticoid-remediable aldosteronism,DOID:14080
porokeratosis,DOID:3805
neurodevelopmental disorder with midbrain and hindbrain malformations,DOID:0080312
hereditary nonpolyposis colorectal cancer type 6,DOID:0070273
hereditary nonpolyposis colorectal cancer type 8,DOID:0070270
Lynch syndrome 1,DOID:0070271
megalencephalic leukoencephalopathy with subcortical cysts 1,DOID:0080316
megalencephalic leukoencephalopathy with subcortical cysts 2B,DOID:0080317
cone-rod dystrophy 14,DOID:0080314
megalencephalic leukoencephalopathy with subcortical cysts,DOID:0080315
megalencephalic leukoencephalopathy with subcortical cysts 2A,DOID:0080318
"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia",DOID:0080319
karyomegalic interstitial nephritis,DOID:0060911
amelogenesis imperfecta type 1C,DOID:0110056
primary ovarian insufficiency,DOID:5426
corneal ulcer,DOID:8463
retinoschisis,DOID:8465
spermatogenic failure 1,DOID:0070188
mucositis,DOID:0080178
meningococcal meningitis,DOID:0080176
hepatic veno-occlusive disease,DOID:0080177
bladder exstrophy,DOID:0080174
retinal degeneration,DOID:8466
thiopurine S-methyltransferase deficiency,DOID:0080172
normophosphatemic familial tumoral calcinosis,DOID:0080170
von Willebrand's disease 3,DOID:0111054
retinitis pigmentosa 73,DOID:0110389
retinitis pigmentosa 10,DOID:0110388
platelet-type bleeding disorder 20,DOID:0111055
retinitis pigmentosa 7,DOID:0110383
retinitis pigmentosa 48,DOID:0110382
retinitis pigmentosa 14,DOID:0110381
retinitis pigmentosa 62,DOID:0110380
retinitis pigmentosa 9,DOID:0110387
platelet-type bleeding disorder 3,DOID:0111056
retinitis pigmentosa 25,DOID:0110384
platelet-type bleeding disorder 11,DOID:0111057
Quebec platelet disorder,DOID:0111050
platelet-type bleeding disorder 18,DOID:0111051
Scott syndrome,DOID:0111052
platelet-type bleeding disorder 15,DOID:0111053
anorexia nervosa,DOID:8689
retinal edema,DOID:6929
acoustic neuroma,DOID:12689
chondroma,DOID:2602
laryngeal carcinoma,DOID:2600
mucosulfatidosis,DOID:0050441
focal segmental glomerulosclerosis 1,DOID:0111128
focal segmental glomerulosclerosis 2,DOID:0111129
congenital myasthenic syndrome 13,DOID:0110676
nephronophthisis 16,DOID:0111124
nephronophthisis 18,DOID:0111125
nephronophthisis 19,DOID:0111126
nephronophthisis 20,DOID:0111127
nephronophthisis 9,DOID:0111120
nephronophthisis 13,DOID:0111121
nephronophthisis 14,DOID:0111122
nephronophthisis 15,DOID:0111123
childhood brain stem glioma,DOID:6383
autosomal recessive nonsyndromic deafness 84A,DOID:0110529
autosomal recessive nonsyndromic deafness 8,DOID:0110527
autosomal recessive nonsyndromic deafness 79,DOID:0110526
autosomal recessive nonsyndromic deafness 77,DOID:0110525
autosomal recessive nonsyndromic deafness 76,DOID:0110524
sideroblastic anemia,DOID:8955
autosomal recessive nonsyndromic deafness 70,DOID:0110521
congenital myasthenic syndrome 6,DOID:0110671
paraplegia,DOID:607
hemolytic anemia,DOID:583
hepatitis E,DOID:4411
urethra cancer,DOID:734
congenital dyserythropoietic anemia type Ib,DOID:0111397
congenital dyserythropoietic anemia type I,DOID:0111396
urethral benign neoplasm,DOID:730
urinary system benign neoplasm,DOID:731
congenital disorder of glycosylation type IIm,DOID:0070265
congenital dyserythropoietic anemia type III,DOID:0111399
polyneuropathy,DOID:1389
congenital dyserythropoietic anemia type Ia,DOID:0111398
sweat gland disease,DOID:1383
congenital disorder of glycosylation type IIi,DOID:0070261
endometrial cancer,DOID:1380
hypolipoproteinemia,DOID:1387
abetalipoproteinemia,DOID:1386
congenital disorder of glycosylation type IIh,DOID:0070260
congenital disorder of glycosylation type IIk,DOID:0070263
disease of cellular proliferation,DOID:14566
ankyloglossia,DOID:0060604
fucosidosis,DOID:14500
Sjogren-Larsson syndrome,DOID:14501
cholesterol ester storage disease,DOID:14502
neuronal ceroid lipofuscinosis,DOID:14503
Niemann-Pick disease,DOID:14504
uveal melanoma,DOID:6039
autosomal recessive chronic granulomatous disease 4,DOID:0070193
juvenile type testicular granulosa cell tumor,DOID:6032
T-cell adult acute lymphocytic leukemia,DOID:5602
T-cell acute lymphoblastic leukemia,DOID:5603
adult acute lymphocytic leukemia,DOID:5604
dental pulp calcification,DOID:5608
fungal infectious disease,DOID:1564
cognitive disorder,DOID:1561
coloboma,DOID:12270
aniridia,DOID:12271
anisometropia,DOID:12273
developmental coordination disorder,DOID:9923
chronic inflammatory demyelinating polyradiculoneuropathy,DOID:5213
congenital disorder of glycosylation,DOID:5212
cataract 23,DOID:0110271
Shwachman-Diamond syndrome,DOID:0060479
autosomal recessive chronic granulomatous disease 2,DOID:0070191
salt and pepper syndrome,DOID:0060470
Kabuki syndrome,DOID:0060473
Kindler syndrome,DOID:0060472
myoclonic-atonic epilepsy,DOID:0060475
familial erythrocytosis 2,DOID:0060474
autosomal recessive limb-girdle muscular dystrophy type 2B,DOID:0110276
autosomal recessive limb-girdle muscular dystrophy type 2A,DOID:0110275
Loeys-Dietz syndrome 3,DOID:0070237
cutaneous fibrous histiocytoma,DOID:4418
biliary tract benign neoplasm,DOID:0050625
gastrointestinal system benign neoplasm,DOID:0050624
reproductive organ benign neoplasm,DOID:0050622
Aicardi-Goutieres syndrome,DOID:0050629
advanced sleep phase syndrome,DOID:0050628
viral pneumonia,DOID:10533
Loeys-Dietz syndrome 1,DOID:0070235
stomach cancer,DOID:10534
gastric fundus cancer,DOID:10538
arthritis,DOID:848
autosomal recessive spinocerebellar ataxia 10,DOID:0050999
nonprogressive cerebellar ataxia with mental retardation,DOID:0050998
episodic ataxia type 6,DOID:0050994
"cerebellar ataxia, mental retardation and dysequlibrium syndrome",DOID:0050997
episodic ataxia type 2,DOID:0050990
episodic ataxia type 5,DOID:0050993
benign recurrent intrahepatic cholestasis 2,DOID:0070232
familial partial lipodystrophy,DOID:0050440
X-linked dominant hypophosphatemic rickets,DOID:0050445
infantile Refsum disease,DOID:0050444
pachyonychia congenita,DOID:0050449
white sponge nevus,DOID:0050448
panic disorder,DOID:594
gait apraxia,DOID:4260
akinetic mutism,DOID:4267
agoraphobia,DOID:593
Loeys-Dietz syndrome 4,DOID:0070233
hyperinsulinemic hypoglycemia,DOID:13317
cardiofaciocutaneous syndrome 2,DOID:0111461
cardiofaciocutaneous syndrome 1,DOID:0111460
cardiofaciocutaneous syndrome 4,DOID:0111463
cardiofaciocutaneous syndrome 3,DOID:0111462
combined oxidative phosphorylation deficiency 21,DOID:0111465
combined oxidative phosphorylation deficiency 35,DOID:0111464
combined oxidative phosphorylation deficiency 13,DOID:0111467
combined oxidative phosphorylation deficiency 38,DOID:0111466
combined oxidative phosphorylation deficiency 16,DOID:0111469
combined oxidative phosphorylation deficiency 25,DOID:0111468
mitochondrial DNA depletion syndrome 14,DOID:0080336
benign recurrent intrahepatic cholestasis,DOID:0070230
congenital fibrosis of the extraocular muscles 1,DOID:0081015
congenital fibrosis of the extraocular muscles 5,DOID:0081020
severe COVID-19,DOID:0081013
congenital fibrosis of the extraocular muscles 3A,DOID:0081017
Tukel syndrome,DOID:0081021
critical COVID-19,DOID:0081012
congenital fibrosis of the extraocular muscles 2,DOID:0081016
syndromic microphthalmia 13,DOID:0111811
atrial standstill 1,DOID:0080662
atrial standstill 2,DOID:0080663
nonsyndromic aplasia cutis congenita,DOID:0080661
warfarin sensitivity,DOID:0080666
diaphyseal medullary stenosis with malignant fibrous histiocytoma,DOID:0080664
warfarin resistance,DOID:0080665
congenital nystagmus 6,DOID:0111795
congenital nystagmus 1,DOID:0111790
syndromic microphthalmia 1,DOID:0111799
X-linked nephrolithiasis type I,DOID:0111798
syndromic microphthalmia 2,DOID:0111809
linear skin defects with multiple congenital anomalies 1,DOID:0111808
syndromic microphthalmia 14,DOID:0111802
syndromic microphthalmia 3,DOID:0111801
syndromic microphthalmia 12,DOID:0111800
syndromic microphthalmia 9,DOID:0111807
syndromic microphthalmia 5,DOID:0111806
syndromic microphthalmia 6,DOID:0111805
syndromic microphthalmia 11,DOID:0111804
congenital nongoitrous hypothyroidism 7,DOID:0111836
congenital nongoitrous hypothyroidism 8,DOID:0111837
X-linked reticulate pigmentary disorder,DOID:0111834
congenital nongoitrous hypothyroidism 9,DOID:0111835
syndactyly type 8,DOID:0111813
methylmalonic acidemia and homocysteinemia cblX type,DOID:0111814
low molecular weight proteinuria with hypercalciuric nephrocalcinosis,DOID:0111815
Basilicata-Akhtar syndrome,DOID:0111838
syndactyly type 3,DOID:0111817
primary ciliary dyskinesia 39,DOID:0111854
primary ciliary dyskinesia 42,DOID:0111855
primary ciliary dyskinesia 43,DOID:0111856
primary ciliary dyskinesia 45,DOID:0111857
primary ciliary dyskinesia 36,DOID:0111850
primary ciliary dyskinesia 44,DOID:0111851
primary ciliary dyskinesia 38,DOID:0111852
primary ciliary dyskinesia 40,DOID:0111853
primary ciliary dyskinesia 41,DOID:0111858
syndactyly type 4,DOID:0111818
syndactyly type 5,DOID:0111819
ichthyosis follicularis-alopecia-photophobia syndrome 1,DOID:0111821
CHILD syndrome,DOID:0111822
Aarskog syndrome,DOID:0111824
X-linked spinal muscular atrophy 2,DOID:0111827
Abruzzo-Erickson syndrome,DOID:0111826
X-linked spinocerebellar ataxia 1,DOID:0111829
osteogenesis imperfecta type 19,DOID:0111847
X-linked congenital hemolytic anemia,DOID:0111846
Mullegama-Klein-Martinez syndrome,DOID:0111845
X-linked intellectual developmental disorder 108,DOID:0111844
Paganini-Miozzo syndrome,DOID:0111843
Shukla-Vernon syndrome,DOID:0111841
Van Esch-O'Driscoll syndrome,DOID:0111840
congenital disorder of glycosylation Icc,DOID:0111839
osteogenesis imperfecta type 20,DOID:0111849
osteogenesis imperfecta type 18,DOID:0111848
Keipert syndrome,DOID:0111842
nonphotosensitive trichothiodystrophy 6,DOID:0111872
photosensitive trichothiodystrophy 1,DOID:0111873
nonphotosensitive trichothiodystrophy 7,DOID:0111870
photosensitive trichothiodystrophy 3,DOID:0111871
linear skin defects with multiple congenital anomalies 3,DOID:0111876
linear skin defects with multiple congenital anomalies 2,DOID:0111877
MLS syndrome,DOID:0111875
Diamond-Blackfan anemia 7,DOID:0111878
Diamond-Blackfan anemia 6,DOID:0111879
"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",DOID:0111859
multiple endocrine neoplasia,DOID:3125
Diamond-Blackfan anemia 20,DOID:0111891
Diamond-Blackfan anemia 11,DOID:0111892
Diamond-Blackfan anemia 16,DOID:0111893
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis,DOID:0111894
Diamond-Blackfan anemia 1,DOID:0111895
Diamond-Blackfan anemia 18,DOID:0111896
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis,DOID:0111897
Noonan syndrome-like disorder with loose anagen hair 2,DOID:0080693
Noonan syndrome-like disorder with loose anagen hair 1,DOID:0080692
RASopathy,DOID:0080690
Burn-McKeown syndrome,DOID:0080695
Galloway-Mowat syndrome,DOID:0080694
Diamond-Blackfan anemia 4,DOID:0111890
photosensitive trichothiodystrophy 2,DOID:0111869
nonphotosensitive trichothiodystrophy 5,DOID:0111868
MEND syndrome,DOID:0111865
autosomal recessive congenital bilateral absence of vas deferens,DOID:0111864
nonphotosensitive trichothiodystrophy,DOID:0111867
trichothiodystrophy,DOID:0111866
Meester-Loeys syndrome,DOID:0111861
AMME complex,DOID:0111860
X-linked congenital bilateral absence of vas deferens,DOID:0111863
congenital bilateral absence of vas deferens,DOID:0111862
Stickler syndrome 2,DOID:0080675
"otospondylomegaepiphyseal dysplasia, autosomal dominant",DOID:0080677
Stickler syndrome 1,DOID:0080676
Meesmann corneal dystrophy 2,DOID:0080671
Meesmann corneal dystrophy 1,DOID:0080670
fibrochondrogenesis 2,DOID:0080673
fibrochondrogenesis 1,DOID:0080672
neuronal intestinal dysplasia type A,DOID:0080679
mucolipidosis III gamma,DOID:0080678
Diamond-Blackfan anemia 5,DOID:0111883
Diamond-Blackfan anemia 12,DOID:0111882
Diamond-Blackfan anemia 8,DOID:0111881
Diamond-Blackfan anemia 17,DOID:0111880
Diamond-blackfan anemia 3,DOID:0111887
Diamond-Blackfan anemia 19,DOID:0111886
Diamond-Blackfan anemia 9,DOID:0111884
Diamond-Blackfan anemia 13,DOID:0111889
Diamond-Blackfan anemia 10,DOID:0111888
mosaic variegated aneuploidy syndrome,DOID:0080688
mosaic variegated aneuploidy syndrome 3,DOID:0080689
posterior polymorphous corneal dystrophy 4,DOID:0080669
X-linked chronic idiopathic intestinal pseudo-obstruction,DOID:0080681
nonsyndromic congenital nail disorder,DOID:0080683
"diffuse midline glioma, H3 K27M-mutant",DOID:0080684
aortic dissection,DOID:0080685
tubular aggregate myopathy 2,DOID:0080686
reducing body myopathy 1B,DOID:0080687
primary hypoalphalipoproteinemia 2,DOID:0080958
aortic valve disease 3,DOID:0080977
amelogenesis imperfecta type 1J,DOID:0080953
anauxetic dysplasia,DOID:0080942
"agenesis of corpus callosum, cardiac, ocular, and genital syndrome",DOID:0080948
AMED syndrome,DOID:0080952
Ehlers-Danlos syndrome periodontal type 2,DOID:0080987
arthrogryposis multiplex congenita-1,DOID:0080978
anauxetic dysplasia 2,DOID:0080962
King Denborough syndrome,DOID:0080990
intracranial berry aneurysm 12,DOID:0080975
anauxetic dysplasia 3,DOID:0080963
retinal dystrophy with leukodystrophy,DOID:0080946
congenital myopathy 1B,DOID:0080991
Ehlers-Danlos syndrome periodontal type 1,DOID:0080986
arthrogryposis multiplex congenita-4,DOID:0080980
central precocious puberty 1,DOID:0112310
abdominal obesity-metabolic syndrome 4,DOID:0080945
hereditary angioedema type I,DOID:0080939
"46,XX sex reversal 5",DOID:0080943
pretibial dystrophic epidermolysis bullosa,DOID:0080988
central precocious puberty 2,DOID:0112309
syndromic X-linked intellectual disorder Lujan-Fryns-type,DOID:0080985
primary hypoalphalipoproteinemia 1,DOID:0080957
arrhythmogenic right ventricular dysplasia 14,DOID:0080959
arthrogryposis multiplex congenita-3,DOID:0080979
hereditary angioedema type III,DOID:0080940
arthrogryposis multiplex congenita-5,DOID:0080981
amelogenesis imperfecta type 2A6,DOID:0080960
X-linked intellectual developmental disorder 109,DOID:0080984
central precocious puberty,DOID:0112308
alopecia-mental retardation syndrome 4,DOID:0080950
acquired angioedema,DOID:0080941
familial Behcet-like autoinflammatory syndrome,DOID:0080944
Bardet-Biedl syndrome 20,DOID:0081009
RNASET2-deficient cystic leukoencephalopathy,DOID:0081007
Bardet-Biedl syndrome 22,DOID:0081011
Bardet-Biedl syndrome 21,DOID:0081010
intellectual developmental disorder with cardiac arrhythmia,DOID:0081008
brain small vessel disease 2,DOID:0112314
male infertility due to globozoospermia,DOID:0112312
"alacrima, achalasia, and impaired intellectual development syndrome",DOID:0112321
Kanzaki disease,DOID:0112319
brain small vessel disease 3,DOID:0112315
male infertility due to acephalic spermatozoa,DOID:0112311
Schindler disease,DOID:0112317
methemoglobinemia and ambiguous genitalia,DOID:0112316
Schindler disease type 1,DOID:0112318
brain small vessel disease,DOID:0112313
glutathione synthetase deficiency,DOID:0080699
spermatogenic failure 25,DOID:0111920
Cowden syndrome 7,DOID:0081003
Cowden syndrome 5,DOID:0081001
autoimmune epilepsy,DOID:0080994
Cowden syndrome 6,DOID:0081002
Cowden syndrome 4,DOID:0081000
autosomal recessive thrombophilia due to protein C deficiency,DOID:0111904
spermatogenic failure 36,DOID:0111921
Opitz GBBB syndrome,DOID:0080697
thrombophilia due to thrombin defect,DOID:0111907
spermatogenic failure,DOID:0111910
spermatogenic failure 30,DOID:0111913
Winchester syndrome,DOID:0080696
thrombophilia due to thrombomodulin defect,DOID:0111908
spermatogenic failure 32,DOID:0111925
thrombophilia due to activated protein C resistance,DOID:0111902
spermatogenic failure 31,DOID:0111922
caudal regression syndrome,DOID:0080700
Teebi hypertelorism syndrome 1,DOID:0080698
spermatogenic failure 24,DOID:0111929
thrombophilia due to HRG deficiency,DOID:0111903
spermatogenic failure 29,DOID:0111930
spermatogenic failure 28,DOID:0111916
spermatogenic failure 39,DOID:0111926
spermatogenic failure 37,DOID:0111927
spermatogenic failure 35,DOID:0111914
spermatogenic failure 26,DOID:0111924
X-linked thrombophilia due to factor IX defect,DOID:0111899
immunodeficiency 23,DOID:0111953
heparin cofactor II deficiency,DOID:0111901
CK syndrome,DOID:0111898
spermatogenic failure 40,DOID:0111918
spermatogenic failure 42,DOID:0111923
spermatogenic failure 33,DOID:0111915
Fanconi renotubular syndrome 5,DOID:0080761
Fanconi renotubular syndrome 4,DOID:0080760
spermatogenic failure 27,DOID:0111928
spermatogenic failure 38,DOID:0111919
immunodeficiency 28,DOID:0111995
immunodeficiency 45,DOID:0111994
immunodeficiency 63,DOID:0111997
immunodeficiency 51,DOID:0111996
immunodeficiency 62,DOID:0111991
immunodeficiency 30,DOID:0111990
immunodeficiency 55,DOID:0111993
immunodeficiency 53,DOID:0111992
immunodeficiency 61,DOID:0111999
immunodeficiency 66,DOID:0111998
immunodeficiency 41,DOID:0111968
immunodeficiency 39,DOID:0111969
autosomal dominant thrombophilia due to protein S deficiency,DOID:0111900
immunodeficiency 15A,DOID:0111960
immunodeficiency 26,DOID:0111961
congenital myopathy 6,DOID:0080719
combined immunodeficiency,DOID:0111962
immunodeficiency 29,DOID:0111950
brittle cornea syndrome 2,DOID:0080729
immunodeficiency 11B,DOID:0111958
GNE myopathy,DOID:0080718
immunodeficiency 27B,DOID:0111956
immunodeficiency 54,DOID:0111967
calvarial doughnut lesions with bone fragility,DOID:0080721
Fanconi renotubular syndrome 2,DOID:0080758
immunodeficiency 37,DOID:0111939
Fanconi renotubular syndrome 3,DOID:0080759
keratosis follicularis spinulosa decalvans,DOID:0080753
erythema nodosum,DOID:0080750
prothrombin thrombophilia,DOID:0080701
immunodeficiency 48,DOID:0111943
immunodeficiency 43,DOID:0111981
T cell and NK cell immunodeficiency,DOID:0080710
keratosis pilaris atrophicans,DOID:0080751
immunodeficiency 71,DOID:0112004
immunodeficiency 24,DOID:0111938
Fanconi renotubular syndrome 1,DOID:0080757
autosomal dominant thrombophilia due to protein C deficiency,DOID:0111909
X-linked keratosis follicularis spinulosa decalvans,DOID:0080754
growth hormone secreting pituitary adenoma 2,DOID:0112007
spermatogenic failure 43,DOID:0111917
Ehlers-Danlos syndrome dermatosparaxis type,DOID:0080733
mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112011
immunodeficiency 69,DOID:0112006
Ehlers-Danlos syndrome musculocontractural type 2,DOID:0080737
immunodeficiency 42,DOID:0111940
immunodeficiency 25,DOID:0111942
autosomal recessive thrombophilia due to protein S deficiency,DOID:0111905
immunodeficiency 33,DOID:0112003
pituitary adenoma 3,DOID:0112010
immunodeficiency 21,DOID:0111947
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112013
pituitary adenoma 5,DOID:0112008
immunodeficiency 12,DOID:0111988
immunodeficiency 64,DOID:0111980
immunodeficiency 34,DOID:0112000
immunodeficiency 27A,DOID:0111955
hereditary diffuse gastric cancer,DOID:0080764
gene duplication disease,DOID:0080712
spermatogenic failure 41,DOID:0111912
immunodeficiency 22,DOID:0111937
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112012
immunodeficiency 49,DOID:0111979
immunodeficiency 65,DOID:0111978
immunodeficiency 17,DOID:0111973
immunodeficiency 56,DOID:0111982
immunodeficiency 19,DOID:0111972
spermatogenic failure 34,DOID:0111911
multisystem inflammatory syndrome in children,DOID:0080711
Ehlers-Danlos syndrome spondylodysplastic type 1,DOID:0080738
MECP2 duplication syndrome,
immunodeficiency 32B,DOID:0111985
immunodeficiency 18,DOID:0111971
pituitary adenoma 1,DOID:0112009
immunodeficiency 52,DOID:0111983
immunodeficiency 10,DOID:0111970
infantile liver failure syndrome,DOID:0080716
immunodeficiency 60,DOID:0111954
immunodeficiency 70,DOID:0112005
Ehlers-Danlos syndrome arthrochalasia type 2,DOID:0080728
BASAN syndrome,DOID:0080725
developmental and epileptic encephalopathy 82,DOID:0080715
Ehlers-Danlos syndrome kyphoscoliotic type 1,DOID:0080734
immunodeficiency 35,DOID:0111989
immunodeficiency 9,DOID:0111976
immunodeficiency 46,DOID:0111948
severe congenital encephalopathy due to MECP2 mutation,DOID:0111932
desmoplastic small round cell tumor,DOID:6785
immunodeficiency 32A,DOID:0111986
immunodeficiency 44,DOID:0111975
syndactyly-telecanthus-anogenital and renal malformations syndrome,DOID:0111931
immunodeficiency 38,DOID:0111934
phosphoglycerate kinase 1 deficiency,DOID:0111933
immunodeficiency 59,DOID:0111974
polymyositis,DOID:0080745
immunodeficiency 58,DOID:0111984
Kenny-Caffey syndrome,DOID:0080724
Ehlers-Danlos syndrome classic-like 1,DOID:0080731
Ehlers-Danlos syndrome arthrochalasia type 1,DOID:0080727
immunodeficiency 36,DOID:0111949
autosomal recessive intellectual developmental disorder 72,DOID:0080765
Ehlers-Danlos syndrome classic-like 2,DOID:0080732
immunodeficiency 11A,DOID:0111957
Kenny-Caffey syndrome type 2,DOID:0080723
immunodeficiency 31A,DOID:0111945
diffuse gastric cancer,DOID:0080763
immunodeficiency 57,DOID:0111952
antisynthetase syndrome,DOID:0080744
chronic urticaria,DOID:0080747
Ehlers-Danlos syndrome classic type 2,DOID:0080726
Ehlers-Danlos syndrome spondylodysplastic type 3,DOID:0080739
immunodeficiency 50,DOID:0112001
immunodeficiency 47,DOID:0112002
immunodeficiency 16,DOID:0111935
autosomal dominant congenital deafness with onychodystrophy,DOID:0080720
limbic encephalitis,DOID:0080741
immunodeficiency 40,DOID:0111951
transverse myelitis,DOID:0080743
autoimmune cholangitis,DOID:0080742
Kenny-Caffey syndrome type 1,DOID:0080722
chronic spontaneous urticaria,DOID:0080749
immunodeficiency 31B,DOID:0111944
Ehlers-Danlos syndrome cardiac valvular type,DOID:0080730
infantile liver failure syndrome 1,DOID:0080717
autosomal recessive limb-girdle muscular dystrophy type 2Z,DOID:0080762
immunodeficiency 14,DOID:0111936
immunodeficiency 15B,DOID:0111959
Ehlers-Danlos syndrome musculocontractural type 1,DOID:0080736
immunodeficiency 20,DOID:0111941
immunodeficiency 13,DOID:0111987
Brown-Vialetto-Van Laere syndrome 1,DOID:0080785
non-syndromic X-linked intellectual disability 72,DOID:0112059
nuclear type mitochondrial complex I deficiency 24,DOID:0112079
early-onset vitamin B6-dependent epilepsy,DOID:0080769
pyridoxine-dependent epilepsy,DOID:0080768
erythrokeratodermia variabilis et progressiva 6,DOID:0080766
nuclear type mitochondrial complex I deficiency 17,DOID:0112078
non-syndromic X-linked intellectual disability 30,DOID:0112051
non-syndromic X-linked intellectual disability 63,DOID:0112050
alpha-thalassemia myelodysplasia syndrome,DOID:0112125
X-linked retinitis pigmentosa and sinorespiratory infections,DOID:0112124
HRPT-related hyperuricemia,DOID:0112127
Stocco Dos Santos type X-linked intellectual disability,DOID:0112126
nephrogenic syndrome of inappropriate antidiuresis,DOID:0112121
SHOX-related short stature,DOID:0112120
mammary analogue secretory carcinoma,DOID:0080808
X-linked epilepsy with variable learning disabilities and behavior disorders,DOID:0112122
cranioectodermal dysplasia 4,DOID:0080806
autosomal dominant craniodiaphyseal dysplasia,DOID:0080807
cranioectodermal dysplasia 2,DOID:0080804
cranioectodermal dysplasia 3,DOID:0080805
autosomal recessive craniometaphyseal dysplasia,DOID:0080802
X-linked severe congenital neutropenia,DOID:0112128
autosomal dominant craniometaphyseal dysplasia,DOID:0080801
Treacher Collins syndrome 4,DOID:0080792
X-linked spondyloepimetaphyseal dysplasia,DOID:0112150
acute erythroid leukemia,DOID:0080780
Treacher Collins syndrome 2,DOID:0080790
corpus callosum agenesis-abnormal genitalia syndrome,DOID:0112151
Treacher Collins syndrome 3,DOID:0080791
non-syndromic X-linked intellectual disability 19,DOID:0112019
non-syndromic X-linked intellectual disability 50,DOID:0112029
non-syndromic X-linked intellectual disability 103,DOID:0112020
non-syndromic X-linked intellectual disability ARX-related,DOID:0112021
non-syndromic X-linked intellectual disability 21,DOID:0112022
non-syndromic X-linked intellectual disability 58,DOID:0112024
female-restricted syndromic X-linked intellectual disability 99,DOID:0112025
non-syndromic X-linked intellectual disability 99,DOID:0112026
CHIME syndrome,DOID:0112152
hypomyelinating leukodystrophy 20,DOID:0112153
inflammatory bowel disease 30,DOID:0112154
inflammatory bowel disease 29,DOID:0112155
X-linked dyserythropoietic anemia,DOID:0112156
X-linked atrophic macular degeneration,DOID:0112157
extrinsic asthma,DOID:0080811
childhood-onset asthma,DOID:0080815
De Sanctis-Cacchione syndrome,DOID:0112158
autosomal dominant nonsyndromic deafness 78,DOID:0112159
non-syndromic X-linked intellectual disability 41,DOID:0112058
nuclear type mitochondrial complex I deficiency 31,DOID:0112071
combined oxidative phosphorylation deficiency 49,DOID:0112110
combined oxidative phosphorylation deficiency 50,DOID:0112111
core binding factor acute myeloid leukemia,DOID:0080796
non-syndromic X-linked intellectual disability 107,DOID:0112054
non-syndromic X-linked intellectual disability 105,DOID:0112036
non-syndromic X-linked intellectual disability 96,DOID:0112035
non-syndromic X-linked intellectual disability 9,DOID:0112034
retinitis pigmentosa 86,DOID:0112143
retinitis pigmentosa 85,DOID:0112142
retinitis pigmentosa 84,DOID:0112141
retinitis pigmentosa 83,DOID:0112140
retinitis pigmentosa 90,DOID:0112147
retinitis pigmentosa 89,DOID:0112146
retinitis pigmentosa 88,DOID:0112145
retinitis pigmentosa 87,DOID:0112144
terminal osseous dysplasia,DOID:0112149
Uruguay faciocardiomusculoskeletal syndrome,DOID:0112148
combined oxidative phosphorylation deficiency 41,DOID:0112119
combined oxidative phosphorylation deficiency 42,DOID:0112118
combined deficiency of vitamin K-dependent clotting factors 2,DOID:0112174
hereditary combined deficiency of vitamin K-dependent clotting factors,DOID:0112172
combined deficiency of vitamin K-dependent clotting factors 1,DOID:0112173
Noonan syndrome 12,DOID:0112170
wrinkly skin syndrome,DOID:0112171
"deafness, dystonia, and cerebral hypomyelination",DOID:0112123
nuclear type mitochondrial complex I deficiency 21,DOID:0112088
nuclear type mitochondrial complex I deficiency 11,DOID:0112089
nuclear type mitochondrial complex I deficiency 26,DOID:0112086
nuclear type mitochondrial complex I deficiency 23,DOID:0112087
nuclear type mitochondrial complex I deficiency 29,DOID:0112084
nuclear type mitochondrial complex I deficiency 19,DOID:0112085
nuclear type mitochondrial complex I deficiency 4,DOID:0112082
nuclear type mitochondrial complex I deficiency 2,DOID:0112083
nuclear type mitochondrial complex I deficiency 32,DOID:0112080
nuclear type mitochondrial complex I deficiency 8,DOID:0112081
severe congenital neutropenia 7,DOID:0112129
cranioectodermal dysplasia 1,DOID:0080803
Noonan syndrome 11,DOID:0112169
autosomal dominant nonsyndromic deafness 77,DOID:0112168
immunodeficiency 72,DOID:0112015
congenital megabladder,DOID:0112014
Noonan syndrome 13,DOID:0112161
autosomal dominant nonsyndromic deafness 79,DOID:0112160
spermatogenic failure 45,DOID:0112163
autosomal recessive nonsyndromic deafness 116,DOID:0112162
autosomal dominant nonsyndromic deafness 74,DOID:0112165
spermatogenic failure 46,DOID:0112164
autosomal dominant nonsyndromic deafness 76,DOID:0112167
autosomal dominant nonsyndromic deafness 75,DOID:0112166
nuclear type mitochondrial complex I deficiency 12,DOID:0112099
nuclear type mitochondrial complex I deficiency 30,DOID:0112098
nuclear type mitochondrial complex I deficiency 34,DOID:0112091
nuclear type mitochondrial complex I deficiency 27,DOID:0112090
nuclear type mitochondrial complex I deficiency 3,DOID:0112093
nuclear type mitochondrial complex I deficiency 7,DOID:0112092
nuclear type mitochondrial complex I deficiency 28,DOID:0112095
nuclear type mitochondrial complex I deficiency 14,DOID:0112094
nuclear type mitochondrial complex I deficiency 33,DOID:0112097
nuclear type mitochondrial complex I deficiency 16,DOID:0112096
primary coenzyme Q10 deficiency 9,DOID:0112138
nuclear type mitochondrial complex I deficiency 35,DOID:0112139
chronic asthma,DOID:0080809
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,DOID:0112064
nuclear type mitochondrial complex I deficiency,DOID:0112065
nuclear type mitochondrial complex I deficiency 6,DOID:0112066
nuclear type mitochondrial complex I deficiency 25,DOID:0112067
Raynaud-Claes syndrome,DOID:0112060
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia,DOID:0112061
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,DOID:0112062
X-Linked immunodeficiency 74,DOID:0112063
combined oxidative phosphorylation deficiency 47,DOID:0112114
combined oxidative phosphorylation deficiency 46,DOID:0112115
combined oxidative phosphorylation deficiency 43,DOID:0112116
combined oxidative phosphorylation deficiency 40,DOID:0112117
nuclear type mitochondrial complex I deficiency 5,DOID:0112068
nuclear type mitochondrial complex I deficiency 22,DOID:0112069
combined oxidative phosphorylation deficiency 48,DOID:0112112
combined oxidative phosphorylation deficiency 45,DOID:0112113
non-syndromic X-linked intellectual disability 1,DOID:0112038
severe congenital neutropenia 2,DOID:0112131
non-syndromic X-linked intellectual disability 104,DOID:0112018
nuclear type mitochondrial complex I deficiency 15,DOID:0112077
nuclear type mitochondrial complex I deficiency 13,DOID:0112076
nuclear type mitochondrial complex I deficiency 10,DOID:0112075
nuclear type mitochondrial complex I deficiency 1,DOID:0112074
nuclear type mitochondrial complex I deficiency 9,DOID:0112073
nuclear type mitochondrial complex I deficiency 20,DOID:0112072
spermatogenic failure 44,DOID:0112109
myofibrillar myopathy 10,DOID:0112108
McLeod syndrome,DOID:0112107
"chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",DOID:0112106
X-linked parkinsonism-spasticity syndrome,DOID:0112105
Sotos syndrome 3,DOID:0112104
Sotos syndrome 1,DOID:0112103
Sotos syndrome 2,DOID:0112102
human cytomegalovirus infection,DOID:0080827
VEXAS syndrome,DOID:0080828
low grade glioma,DOID:0080829
sinonasal undifferentiated carcinoma,DOID:0080799
proximal symphalangism 1,DOID:0080787
Brown-Vialetto-Van Laere syndrome 2,DOID:0080786
nuclear type mitochondrial complex I deficiency 18,DOID:0112070
transient infantile liver failure,DOID:0080778
plasmablastic lymphoma,DOID:0080779
complete androgen insensitivity syndrome,DOID:0080775
autosomal dominant  beta thalassemia,DOID:0080770
beta-thalassemia major,DOID:0080771
beta-thalassemia intermedia,DOID:0080772
delta beta-thalassemia,DOID:0080773
Tonne-Kalscheuer syndrome,DOID:0112042
non-syndromic X-linked intellectual disability 91,DOID:0112043
non-syndromic X-linked intellectual disability 100,DOID:0112040
non-syndromic X-linked intellectual disability 90,DOID:0112041
non-syndromic X-linked intellectual disability 97,DOID:0112046
non-syndromic X-linked intellectual disability 98,DOID:0112044
non-syndromic X-linked intellectual disability 93,DOID:0112045
severe congenital neutropenia 5,DOID:0112132
severe congenital neutropenia 3,DOID:0112133
non-syndromic X-linked intellectual disability 101,DOID:0112048
severe congenital neutropenia 4,DOID:0112136
combined oxidative phosphorylation deficiency 51,DOID:0112137
severe congenital neutropenia 6,DOID:0112134
severe congenital neutropenia 8,DOID:0112135
mild cognitive impairment,DOID:0080832
subjective cognitive decline,DOID:0080831
childhood low-grade glioma,DOID:0080830
X-linked intellectual disability-short stature-overweight syndrome,DOID:0112056
urinary tract infection,DOID:0080784
Treacher Collins syndrome 1,DOID:0080789
proximal symphalangism 2,DOID:0080788
vitamin D-dependent rickets type 1A,DOID:0080886
vitamin D-dependent rickets type 1B,DOID:0080887
vitamin D-dependent rickets type 2A,DOID:0080884
vitamin D-dependent rickets,DOID:0080883
supratentorial ependymoma,DOID:0080890
Bainbridge-Ropers syndrome,DOID:0080893
solitary fibrous tumor/hemangiopericytoma,DOID:0080897
histone mutated tumor,DOID:0080879
tetraamelia syndrome 1,DOID:0112192
tetraamelia syndrome 2,DOID:0112193
thyroid dyshormonogenesis 3,DOID:0112187
thyroid dyshormonogenesis 2A,DOID:0112186
thyroid dyshormonogenesis 1,DOID:0112185
thyroid dyshormonogenesis 5,DOID:0112184
mismatch repair cancer syndrome,DOID:0112182
Schinzel type phocomelia,DOID:0112181
urocanase deficiency,DOID:0112180
thyroid dyshormonogenesis 6,DOID:0112189
thyroid dyshormonogenesis 4,DOID:0112188
spermatogenic failure 47,DOID:0112175
long COVID,DOID:0080848
intracranial meningioma,DOID:0080842
optic atrophy 12,DOID:0080840
pemphigoid,DOID:0080841
omodysplasia 1,DOID:0080844
omodysplasia 2,DOID:0080845
Filippi syndrome,DOID:0112194
spondyloperipheral dysplasia,DOID:0112195
"spondylometaepiphyseal dysplasia, short limb-hand type",DOID:0112196
spondyloepimetaphyseal dysplasia with joint laxity,DOID:0112197
distal arthrogryposis type 1C,DOID:0112190
tetraamelia syndrome,DOID:0112191
spermatogenic failure 48,DOID:0112176
Mayer-Rokitansky-Kuster-Hauser syndrome,DOID:0112177
Human papillomavirus infectious disease,DOID:11166
spondyloepimetaphyseal dysplasia with joint laxity type 1,DOID:0112198
spondyloepimetaphyseal dysplasia with joint laxity type 2,DOID:0112199
spondyloepimetaphyseal dysplasia with joint laxity type 3,DOID:0112200
growth hormone insensitivity syndrome with immune dysregulation 2,DOID:0080837
growth hormone insensitivity syndrome with immune dysregulation 1,DOID:0080836
X-linked warfarin sensitivity,DOID:0080839
diffuse astrocytoma,DOID:4857
developmental and epileptic encephalopathy 81,DOID:0112217
developmental and epileptic encephalopathy 80,DOID:0112216
developmental and epileptic encephalopathy 79,DOID:0112215
developmental and epileptic encephalopathy 78,DOID:0112214
multiple congenital anomalies-hypotonia-seizures syndrome 4,DOID:0112213
developmental and epileptic encephalopathy 76,DOID:0112212
developmental and epileptic encephalopathy 75,DOID:0112211
developmental and epileptic encephalopathy 74,DOID:0112210
chondrodysplasia with joint dislocations gPAPP type,DOID:0112224
developmental and epileptic encephalopathy 84,DOID:0112219
developmental and epileptic encephalopathy 83,DOID:0112218
primary ovarian insufficiency 12,DOID:0080869
primary ovarian insufficiency 7,DOID:0080864
primary ovarian insufficiency 8,DOID:0080865
primary ovarian insufficiency 9,DOID:0080866
primary ovarian insufficiency 10,DOID:0080867
primary ovarian insufficiency 3,DOID:0080860
primary ovarian insufficiency 4,DOID:0080861
primary ovarian insufficiency 5,DOID:0080862
primary ovarian insufficiency 6,DOID:0080863
developmental and epileptic encephalopathy 68,DOID:0112204
developmental and epileptic encephalopathy 69,DOID:0112205
developmental and epileptic encephalopathy 70,DOID:0112206
developmental and epileptic encephalopathy 71,DOID:0112207
anaplastic oligodendroglioma,DOID:7154
developmental and epileptic encephalopathy 88,DOID:0112222
developmental and epileptic encephalopathy 89,DOID:0112223
developmental and epileptic encephalopathy 86,DOID:0112220
developmental and epileptic encephalopathy 87,DOID:0112221
osteogenesis imperfecta type 21,DOID:0112201
developmental and epileptic encephalopathy,DOID:0112202
BH4-deficient hyperphenylalaninemia B,DOID:0112225
primary ovarian insufficiency 2B,DOID:0080859
developmental and epileptic encephalopathy 67,DOID:0112203
developmental and epileptic encephalopathy 72,DOID:0112208
developmental and epileptic encephalopathy 73,DOID:0112209
primary ovarian insufficiency 2A,DOID:0080858
Parkinsonism,DOID:0080855
primary ovarian insufficiency 1,DOID:0080857
vascular Parkinsonism,DOID:0080856
IgA pemphigus,DOID:0080851
pemphigus foliaceus,DOID:0080850
paraneoplastic pemphigus,DOID:0080852
primary ovarian insufficiency 17,DOID:0080874
primary ovarian insufficiency 16,DOID:0080873
primary ovarian insufficiency 15,DOID:0080872
primary ovarian insufficiency 14,DOID:0080871
primary ovarian insufficiency 13,DOID:0080870
nephrotic syndrome type 22,DOID:0112268
spermatogenic failure 49,DOID:0112271
lissencephaly 4,DOID:0112235
Leydig cell hypoplasia,DOID:0112259
spermatogenic failure 50,DOID:0112272
X-linked lissencephaly 1,DOID:0112239
X-linked lissencephaly 2,DOID:0112238
glutathione synthetase deficiency of erythrocytes,DOID:0112252
combined cellular and humoral immune defects with granulomas,DOID:0112253
microlissencephaly,DOID:0112234
Ghosal hematodiaphyseal syndrome,DOID:0112251
lissencephaly 6,DOID:0112236
lissencephaly 7 with cerebellar hypoplasia,DOID:0112231
lissencephaly 1,DOID:0112237
lissencephaly 8,DOID:0112233
lissencephaly 3,DOID:0112232
CNS neuroblastoma with FOXR2 activation,DOID:0080906
central nervous system neuroblastoma,DOID:0080905
"astroblastoma, MN1-altered",DOID:0080904
"embryonal tumor with multilayered rosettes, C19MC-altered",DOID:0080903
primary ovarian insufficiency 18,DOID:0112269
hydroxykynureninuria,DOID:0112257
Leber congenital amaurosis with early-onset deafness,DOID:0112240
lissencephaly 5,DOID:0112230
homocystinuria-megaloblastic anemia cblE type,DOID:0112255
hepatic venoocclusive disease with immunodeficiency,DOID:0112254
17-beta hydroxysteroid dehydrogenase 3 deficiency,DOID:0112248
GAPO syndrome,DOID:0112249
Woodhouse-Sakati syndrome,DOID:0112264
iminoglycinuria,DOID:0112265
homocystinuria-megaloblastic anemia cblG type,DOID:0112256
hypoinsulinemic hypoglycemia with hemihypertrophy,DOID:0112263
Leydig cell hypoplasia type I,DOID:0112260
congenital symmetric circumferential skin creases 1,DOID:0112242
congenital symmetric circumferential skin creases 2,DOID:0112243
"alopecia, neurologic defects, and endocrinopathy syndrome",DOID:0112244
focal segmental glomerulosclerosis 3,DOID:0112245
glutaric acidemia type 3,DOID:0112246
"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",DOID:0112247
nephrotic syndrome type 23,DOID:0112266
Bosch-Boonstra-Schaaf optic atrophy syndrome,DOID:0112226
tubulinopathy,DOID:0112227
spermatogenic failure 52,DOID:0112270
Gaucher's disease type IIIC,DOID:0112250
lissencephaly 9 with complex brainstem malformation,DOID:0112228
lissencephaly 10,DOID:0112229
spermatogenic failure 51,DOID:0112273
N-acetylglutamate synthase deficiency,DOID:0112258
leucine-sensitive hypoglycemia of infancy,DOID:0112262
nephrotic syndrome type 21,DOID:0112267
X-linked spermatogenic failure 3,DOID:0112274
pontocerebellar hypoplasia type 1,DOID:0112322
spermatogenic failure 54,DOID:0112335
pontocerebellar hypoplasia type 16,DOID:0112333
spermatogenic failure 55,DOID:0112337
pontocerebellar hypoplasia type 1F,DOID:0112331
pontocerebellar hypoplasia type 1E,DOID:0112330
pontocerebellar hypoplasia type 1C,DOID:0112334
pontocerebellar hypoplasia type 13,DOID:0112332
spermatogenic failure 57,DOID:0112338
retinal cone dystrophy 4,DOID:0081023
pontocerebellar hypoplasia type 14,DOID:0112325
spermatogenic failure 56,DOID:0112336
pontocerebellar hypoplasia type 15,DOID:0112326
pontocerebellar hypoplasia type 11,DOID:0112324
pontocerebellar hypoplasia type 2F,DOID:0112329
pontocerebellar hypoplasia type 2,DOID:0112328
retinal cone dystrophy 3B,DOID:0081022
pontocerebellar hypoplasia type 12,DOID:0112327
pontocerebellar hypoplasia type 1D,DOID:0112323
retinal cone dystrophy 3A,DOID:0081025
acute myeloid leukemia without maturation,DOID:0081086
X-linked nephrogenic diabetes insipidus,DOID:0081060
DICER1 syndrome,DOID:0081063
Graves ophthalmopathy,DOID:0081120
spondylocostal dysostosis 6,DOID:0112360
congenital limbs-face contractures-hypotonia-developmental delay syndrome,DOID:0081048
hereditary spastic paraplegia 80,DOID:0112341
spondylocostal dysostosis 4,DOID:0112364
frontonasal dysplasia 1,DOID:0081045
Tatton-Brown-Rahman syndrome,DOID:0112339
spondylocostal dysostosis 1,DOID:0112365
T-cell prolymphocytic leukemia,DOID:0081042
graft-versus-host disease,DOID:0081267
acute myeloid leukemia with maturation,DOID:0081087
frontonasal dysplasia,DOID:0081044
central diabetes insipidus,DOID:0081055
acute myelomonocytic leukemia,DOID:0081082