Accepted |
Type |
Usage
|
Yes |
disease (Q12136) |
77
|
Yes |
syndrome (Q179630) |
23
|
Yes |
autosomal dominant disease (Q18553439) |
18
|
Yes |
autosomal recessive disease (Q10267817) |
15
|
Yes |
genetic disease (Q200779) |
12
|
Yes |
nervous system heredodegenerative disease (Q19001236) |
8
|
Yes |
X-linked recessive disease (Q55010090) |
7
|
Yes |
rare genetic developmental defect during embryogenesis (Q55785846) |
7
|
Yes |
muscular dystrophy (Q1137767) |
6
|
Yes |
neurometabolic disease (Q1337418) |
6
|
Yes |
eye degenerative disease (Q18558225) |
5
|
Yes |
leukodystrophy (Q1821559) |
4
|
Yes |
syndromic developmental defect of the eye (Q55785336) |
4
|
Yes |
periodic paralysis (Q1788314) |
4
|
Yes |
autosomal genetic disease (Q18553442) |
4
|
Yes |
osteochondrodysplasia (Q3251367) |
4
|
Yes |
genetic syndromic intellectual disability (Q55785866) |
4
|
Yes |
glycogen storage disease (Q1421738) |
4
|
Yes |
neuroacanthocytosis (Q746781) |
3
|
Yes |
inherited renal tumor (Q55785849) |
3
|
Yes |
ptosis (Q622427) |
3
|
Yes |
metabolic disease with cataract (Q55789275) |
3
|
Yes |
metabolic disease with corneal opacity (Q55789274) |
3
|
Yes |
amino acid metabolic disorder (Q18558086) |
3
|
Yes |
lysosomal storage disease with skeletal involvement (Q55788818) |
3
|
Yes |
organic brain syndrome (Q360341) |
3
|
Yes |
chromosomal disease (Q4501577) |
3
|
Yes |
rare metabolic liver disease (Q55785261) |
3
|
Yes |
malformation syndrome with skin/mucosae involvement (Q55785402) |
3
|
Yes |
syndrome associated with hypertrophic cardiomyopathy (Q55786146) |
3
|
Yes |
polymalformative genetic syndrome with increased risk of developing cancer (Q55785832) |
3
|
Yes |
rare genetic epilepsy (Q55785842) |
3
|
Yes |
X-linked intellectual disability (Q8041560) |
3
|
Yes |
hypertrophic cardiomyopathy (Q1364270) |
3
|
Yes |
ectodermal dysplasia (Q1323713) |
3
|
Yes |
mitochondrial disease with eye involvement (Q55789259) |
2
|
Yes |
malformation syndrome with short stature (Q55785400) |
2
|
Yes |
nervous system malformations (Q584265) |
2
|
Yes |
encephalopathy (Q576349) |
2
|
Yes |
developmental anomaly of metabolic origin (Q55785399) |
2
|
Yes |
eye disease (Q3041498) |
2
|
Yes |
syndromic microphthalmia (Q29982037) |
2
|
Yes |
mitochondrial disease with epilepsy (Q55786197) |
2
|
Yes |
hereditary retinal dystrophy (Q18557955) |
2
|
Yes |
multiple congenital anomalies/dysmorphic syndrome without intellectual disability (Q55785290) |
2
|
Yes |
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (Q55785289) |
2
|
Yes |
multiple congenital anomalies/dysmorphic syndrome-intellectual disability (Q55785288) |
2
|
Yes |
congenital structural myopathy (Q18556238) |
2
|
Yes |
mitochondrial disease with peripheral neuropathy (Q55786198) |
2
|
Yes |
liver disease (Q929737) |
2
|
Yes |
mucolipidosis (Q1952032) |
2
|
Yes |
neurofibromatoses (Q847605) |
2
|
Yes |
genetic cardiac rhythm disease (Q55785258) |
2
|
Yes |
other metabolic disease with epilepsy (Q55786201) |
2
|
Yes |
genetic neurodegenerative disease with dementia (Q55346116) |
2
|
Yes |
syndromic obesity (Q55786310) |
2
|
Yes |
nephropathy secondary to a storage or other metabolic disease (Q55788855) |
2
|
Yes |
syndromic glaucoma (Q55789219) |
2
|
Yes |
malformation syndrome with hamartosis (Q55789095) |
2
|
Yes |
movement disorders (Q2608695) |
2
|
Yes |
intestinal disease (Q3055380) |
2
|
Yes |
chromosomal deletion syndrome (Q16918398) |
2
|
Yes |
muscular channelopathy (Q55788493) |
2
|
Yes |
kidney disease (Q1054718) |
2
|
Yes |
Primary lymphedema (Q7243149) |
2
|
Yes |
catecholamine-producing tumor (Q55788491) |
2
|
Yes |
progressive muscular dystrophy (Q55785935) |
2
|
Yes |
neurological disorder (Q3339235) |
2
|
Yes |
syndromic neurometabolic disease with X-linked intellectual disability (Q55785814) |
2
|
Yes |
muscular glycogenosis (Q55785945) |
2
|
Yes |
amino acid transport disorder (Q471778) |
2
|
Yes |
marfanoid (Q6759035) |
2
|
Yes |
lysosomal disease with hypertrophic cardiomyopathy (Q55786143) |
2
|
Yes |
syndromic genetic deafness (Q55788734) |
2
|
Yes |
mucopolysaccharidosis (Q1479681) |
2
|
Yes |
mitochondrial disease with dilated cardiomyopathy (Q55786150) |
2
|
Yes |
androgen insensitivity syndrome (Q512313) |
2
|
Yes |
genetic hematologic disease (Q55785542) |
2
|
Yes |
long QT syndrome (Q653924) |
2
|
Yes |
progeroid syndrome (Q6139748) |
2
|
Yes |
primary osteolysis (Q55788819) |
1
|
Yes |
autoinflammatory syndrome with skin involvement (Q55787013) |
1
|
Yes |
rare genetic tremor disorder (Q55787262) |
1
|
Yes |
lysosomal glycogen storage disease (Q55787314) |
1
|
Yes |
rare disorder with dystonia and other neurologic or systemic manifestation (Q55787834) |
1
|
Yes |
constitutional neutropenia with extra-hematopoietic manifestations (Q55787695) |
1
|
Yes |
primary bone dysplasia (Q55787804) |
1
|
Yes |
oligosaccharidosis (Q55788568) |
1
|
Yes |
rare genetic dystonia (Q55787960) |
1
|
Yes |
primary lymphedema with associated anomalies (Q55788282) |
1
|
Yes |
central nervous system and retinal vascular disease (Q55788489) |
1
|
Yes |
lymphedema (Q916398) |
1
|
Yes |
other genetic dermis disorder (Q55788349) |
1
|
Yes |
rare disease with malignant hyperthermia (Q55788310) |
1
|
Yes |
lysosomal disease with restrictive cardiomyopathy (Q55786156) |
1
|
Yes |
skin disease (Q949302) |
1
|
Yes |
hyaline fibromatosis syndrome (Q102294089) |
1
|
Yes |
peripheral neuropathy (Q945238) |
1
|
Yes |
rare genetic immune disease (Q55785867) |
1
|
Yes |
non-dystrophic myopathy (Q55785938) |
1
|
Yes |
congenital heart disease (Q939364) |
1
|
Yes |
genetic vascular anomaly (Q55786073) |
1
|
Yes |
glycogen storage disease with hypertrophic cardiomyopathy (Q55786141) |
1
|
Yes |
mitochondrial disease with hypertrophic cardiomyopathy (Q55786144) |
1
|
Yes |
osteomyelitis (Q938983) |
1
|
Yes |
syndrome associated with dilated cardiomyopathy (Q55786153) |
1
|
Yes |
epidermolysis bullosa (Q923020) |
1
|
Yes |
hereditary poikiloderma (Q55786182) |
1
|
Yes |
lysosomal disease with epilepsy (Q55786192) |
1
|
Yes |
mitochondrial disease (Q935710) |
1
|
Yes |
metal transport or utilization disorder with epilepsy (Q55786195) |
1
|
Yes |
rare disease (Q929833) |
1
|
Yes |
inherited nervous system cancer-predisposing syndrome (Q55786407) |
1
|
Yes |
mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA (Q55786429) |
1
|
Yes |
mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (Q55786430) |
1
|
Yes |
alpha-thalassemia and related diseases (Q55786861) |
1
|
Yes |
rare disease with thoracic aortic aneurysm and aortic dissection (Q55786976) |
1
|
Yes |
disorder of lysine and hydroxylysine metabolism (Q55787002) |
1
|
Yes |
lysosomal storage disease (Q675010) |
1
|
Yes |
connective tissue disease with eye involvement (Q55789267) |
1
|
Yes |
dementia (Q83030) |
1
|
Yes |
ectodermal malformation syndrome associated with ocular features (Q55789272) |
1
|
Yes |
autoimmune disease (Q8084905) |
1
|
Yes |
Peutz-Jeghers polyp (Q55950136) |
1
|
Yes |
hypoxanthine-guanine phosphoribosyltransferase deficiency (Q56013793) |
1
|
Yes |
familial chylomicronemia syndrome (Q56014181) |
1
|
Yes |
hypergonadotropic hypogonadism (Q5958036) |
1
|
Yes |
polycystic kidney disease (Q60195313) |
1
|
Yes |
glomerulonephritis (Q605006) |
1
|
Yes |
vein disorder (Q7918687) |
1
|
Yes |
Ohtahara syndrome (Q649602) |
1
|
Yes |
hereditary spastic paraplegia (Q657516) |
1
|
Yes |
pervasive developmental disorder (Q6691991) |
1
|
Yes |
classical lissencephalies and subcortical band heterotopias (Q67215740) |
1
|
Yes |
nervous system anomaly with eye involvement (Q55789255) |
1
|
Yes |
Mannosidosis (Q6750947) |
1
|
Yes |
urticarial syndrome (Q7901363) |
1
|
Yes |
hyperlipoproteinemia type I (Q68640538) |
1
|
Yes |
mitochondrial encephalomyopathy (Q6881866) |
1
|
Yes |
urinary system disease (Q7900883) |
1
|
Yes |
muscular disease (Q692536) |
1
|
Yes |
overgrowth syndrome (Q7113674) |
1
|
Yes |
Thyroid dyshormonogenesis (Q7799748) |
1
|
Yes |
spinal muscular atrophies (Q7577466) |
1
|
Yes |
pigmentation disorder (Q7193408) |
1
|
No |
organonitrogen heterocyclic compound (Q72084374) |
1
|
Yes |
congenital disorder (Q727096) |
1
|
No |
tertiary amine (Q72801119) |
1
|
Yes |
spinal disease (Q7577457) |
1
|
Yes |
genetic lipodystrophy (Q55789109) |
1
|
Yes |
inherited epidermolysis bullosa (Q55788582) |
1
|
Yes |
dystonia (Q906492) |
1
|
Yes |
mixed dermis disorder (Q55788599) |
1
|
Yes |
other dermis disorder (Q55788600) |
1
|
Yes |
skin tumor or hamartoma (Q55788604) |
1
|
Yes |
mucopolysaccharidosis with skin involvement (Q55788606) |
1
|
Yes |
syndromic lymphedema (Q55788697) |
1
|
Yes |
rare bone disease (Q55788795) |
1
|
Yes |
spinocerebellar ataxia (Q899726) |
1
|
Yes |
blood coagulation disease (Q890200) |
1
|
Yes |
sialuria (Q7506696) |
1
|
Yes |
familial cystic renal disease (Q55788849) |
1
|
Yes |
hematological disorder with renal involvement (Q55788858) |
1
|
Yes |
rare disease with odontological manifestation (Q55789054) |
1
|
Yes |
other metabolic disease with skin involvement (Q55788569) |
1
|
Yes |
constitutional hemolytic anemia due to acanthocytosis (Q55789124) |
1
|
Yes |
genetic peripheral neuropathy (Q55789138) |
1
|
Yes |
secondary ectropion (Q55789166) |
1
|
Yes |
syndromic epicanthus (Q55789170) |
1
|
Yes |
pigmented conjunctival lesion (Q55789203) |
1
|
Yes |
syndromic myopia (Q55789206) |
1
|
Yes |
cataract associated with a metabolic disease (Q55789224) |
1
|
Yes |
cerebral disease with cataract (Q55789225) |
1
|
Yes |
renal disease with cataract (Q55789226) |
1
|
Yes |
musculoskeletal disease with cataract (Q55789228) |
1
|
Yes |
lens shape anomaly (Q55789234) |
1
|
Yes |
unclassified primitive or secondary maculopathy (Q55789241) |
1
|
Yes |
syndrome with a symptomatic strabismus (Q55789247) |
1
|
Yes |
myopathy with eye involvement (Q55789252) |
1
|
Yes |
sciatic neuropathy (Q18554084) |
1
|
Yes |
myotonic disease (Q18556352) |
1
|
Yes |
hepatic vascular disease (Q18555173) |
1
|
Yes |
iris disease (Q18555070) |
1
|
Yes |
neuroaxonal dystrophy (Q18555065) |
1
|
Yes |
plasma protein metabolism disease (Q18555057) |
1
|
Yes |
inherited blood coagulation disease (Q18555031) |
1
|
Yes |
sex differentiation disease (Q18554938) |
1
|
Yes |
autonomic nervous system disease (Q18554088) |
1
|
Yes |
retinal cancer (Q18556412) |
1
|
Yes |
eyelid degenerative disease (Q18553781) |
1
|
Yes |
migraine with aura (Q18553762) |
1
|
Yes |
intrinsic cardiomyopathy (Q18553611) |
1
|
Yes |
autoimmune disease of central nervous system (Q18553585) |
1
|
Yes |
syndromic intellectual disability (Q18553536) |
1
|
Yes |
X-linked disease (Q18553438) |
1
|
Yes |
distal arthrogryposis (Q18553375) |
1
|
Yes |
thalassemia (Q185137) |
1
|
Yes |
proliferative glomerulonephritis (Q18556474) |
1
|
Yes |
aortic disease (Q18556675) |
1
|
Yes |
muscle tissue disease (Q18557307) |
1
|
Yes |
retinal cell cancer (Q18557709) |
1
|
Yes |
myopathy of extraocular muscle (Q18558093) |
1
|
Yes |
X-linked chondrodysplasia punctata (Q18987139) |
1
|
Yes |
demyelinating disease of central nervous system (Q19000726) |
1
|
Yes |
copper metabolism disease (Q19001238) |
1
|
Yes |
sulfuraminoacidemia (Q19001322) |
1
|
Yes |
chronic progressive external ophthalmoplegia (Q2026857) |
1
|
Yes |
polyposis (Q2103081) |
1
|
Yes |
synostosis (Q2141048) |
1
|
Yes |
diabetes insipidus (Q220551) |
1
|
Yes |
tremor (Q223907) |
1
|
Yes |
pseudohermaphroditism (Q2273662) |
1
|
Yes |
neutropenia (Q1435822) |
1
|
Yes |
tubulopathy (Q1048573) |
1
|
Yes |
cerebral calcification (Q108404609) |
1
|
Yes |
Collagen VI myopathy (Q109676398) |
1
|
Yes |
inherited tumor (Q1117773) |
1
|
Yes |
tyrosinemia (Q1122668) |
1
|
Yes |
congenital myopathy (Q112412) |
1
|
Yes |
impaired renal function disease (Q11612288) |
1
|
Yes |
myoclonus (Q116275) |
1
|
Yes |
demyelinating disease (Q1186703) |
1
|
Yes |
monogenic disease (Q1225194) |
1
|
Yes |
distichia (Q1229478) |
1
|
Yes |
vascular disease (Q1266890) |
1
|
Yes |
congenital muscular dystrophy (Q1321884) |
1
|
Yes |
severe combined immunodeficiency (Q1334408) |
1
|
Yes |
myositis (Q1433212) |
1
|
Yes |
sphingolipidosis (Q2309612) |
1
|
Yes |
autism spectrum disorder (Q1436063) |
1
|
Yes |
multiple endocrine neoplasia (Q1553018) |
1
|
Yes |
hemophagocytic lymphohistiocytosis (Q1642170) |
1
|
Yes |
hyperthyroidism (Q16499) |
1
|
Yes |
dilated cardiac chambers (Q16644209) |
1
|
Yes |
neurodegeneration with brain iron accumulation (Q16892735) |
1
|
Yes |
cerebral creatine deficiency syndrome (Q16908143) |
1
|
Yes |
generalized epilepsy with febrile seizures plus (Q16909671) |
1
|
Yes |
neuro-cardio-facial-cutaneous syndromes (Q17074582) |
1
|
Yes |
neuronal migration disorder (Q17146964) |
1
|
Yes |
neurodegeneration (Q1755122) |
1
|
Yes |
inherited metabolic disorder (Q1758393) |
1
|
Yes |
connective tissue disease (Q1779300) |
1
|
Yes |
strabismus (Q179951) |
1
|
Yes |
atriodigital dysplasia (Q18018497) |
1
|
Yes |
Huntington disease and related disorders (Q55345637) |
1
|
Yes |
syndromic diaphragmatic or abdominal wall malformation (Q55785334) |
1
|
Yes |
constitutional neutropenia (Q55785274) |
1
|
Yes |
multiple polyglandular tumor (Q55785235) |
1
|
Yes |
X-linked complex spastic paraplegia (Q55346104) |
1
|
Yes |
frontotemporal degeneration with dementia (Q55346097) |
1
|
Yes |
autosomal recessive degenerative and progressive cerebellar ataxia (Q55346094) |
1
|
Yes |
autosomal dominant cerebellar ataxia type IV (Q55346089) |
1
|
Yes |
PLA2G6-associated neurodegeneration (Q55346017) |
1
|
Yes |
syndrome with a central nervous system malformation as major feature (Q55785338) |
1
|
Yes |
retinal disease (Q550455) |
1
|
Yes |
X-linked dominant disease (Q55010089) |
1
|
Yes |
malformations of cortical development, Group III (Q55003193) |
1
|
Yes |
TDP-43 Proteinopathies (Q54920211) |
1
|
Yes |
eye abnormalities (Q54911717) |
1
|
Yes |
complete generalized lipodystrophy (Q53661801) |
1
|
Yes |
congenital hypothyroidism (Q531012) |
1
|
Yes |
SC phocomelia syndrome (Q52956039) |
1
|
Yes |
autosomal recessive hereditary sensory and autonomic neuropathy (Q55785425) |
1
|
Yes |
rare syndrome with cardiac malformations (Q55785518) |
1
|
Yes |
rare genetic respiratory disease (Q55785522) |
1
|
Yes |
chromosomal anomaly with epilepsy as a major feature (Q55785627) |
1
|
Yes |
cerebral malformation with epilepsy (Q55785630) |
1
|
Yes |
DNA repair defect other than combined T-cell and B-cell immunodeficiencies (Q55785655) |
1
|
Yes |
congenital myopathy with cores (Q55785700) |
1
|
Yes |
syndromic hypothyroidism (Q55785710) |
1
|
Yes |
syndrome with hypoparathyroidism (Q55785800) |
1
|
Yes |
primary orthostatic hypotension (Q55785810) |
1
|
Yes |
syndromic neurometabolic disease with non-X-linked intellectual disability (Q55785813) |
1
|
Yes |
inherited skin tumor (Q55785837) |
1
|
Yes |
genetic photodermatosis (Q55785838) |
1
|
Yes |
genetic central nervous system and retinal vascular disease (Q55785839) |
1
|
Yes |
inherited renal tubular disease (Q55785848) |
1
|
Yes |
metal metabolism disorder (Q3281373) |
1
|
Yes |
synucleinopathy (Q2376264) |
1
|
Yes |
tauopathy (Q2397106) |
1
|
Yes |
ocular cancer (Q2420648) |
1
|
Yes |
Huntington's disease-like syndrome (Q24977062) |
1
|
Yes |
tumor of hematopoietic and lymphoid tissues (Q2509220) |
1
|
Yes |
dissection (Q2660911) |
1
|
Yes |
endocrine system disease (Q2661443) |
1
|
Yes |
porphyria (Q271759) |
1
|
Yes |
hypomyelinating leukodystrophy (Q28065591) |
1
|
Yes |
neonatal diabetes mellitus (Q2898645) |
1
|
Yes |
channelopathy (Q2936142) |
1
|
Yes |
photodermatosis (Q2986815) |
1
|
Yes |
retinal degeneration (Q3043268) |
1
|
Yes |
hemiplegic migraine (Q30587719) |
1
|
Yes |
motor neuron disease (Q3221083) |
1
|
Yes |
hereditary eye tumor (Q55785853) |
1
|
Yes |
inborn errors of purine–pyrimidine metabolism (Q3281375) |
1
|
Yes |
congenital vertebral anomaly (Q332343) |
1
|
Yes |
ELANE-related neutropenia (Q3338731) |
1
|
Yes |
lung disease (Q3392853) |
1
|
Yes |
neurodevelopmental disorder (Q3450985) |
1
|
Yes |
trinucleotide repeat disorder (Q356736) |
1
|
Yes |
intrahepatic cholestasis (Q3682587) |
1
|
Yes |
hereditary sensory and autonomic neuropathy (Q3702898) |
1
|
Yes |
immune disorder (Q3843811) |
1
|
Yes |
lymphoproliferative disorders (Q4165484) |
1
|
Yes |
porphyria due to ALAD deficiency (Q419897) |
1
|
Yes |
aging-associated disease (Q438962) |
1
|
Yes |
hemangioblastoma (Q460937) |
1
|
Yes |
basal ganglia disease (Q4866181) |
1
|
Yes |
craniofacial disease (Q5182134) |
1
|