Accepted |
Type |
Usage
|
Yes |
rare disease (Q929833) |
33
|
Yes |
disease (Q12136) |
28
|
Yes |
developmental defect during embryogenesis (Q55788864) |
23
|
Yes |
genetic disease (Q200779) |
14
|
Yes |
autosomal recessive disease (Q10267817) |
11
|
Yes |
autosomal dominant disease (Q18553439) |
9
|
Yes |
mucopolysaccharidosis (Q1479681) |
7
|
Yes |
designated intractable/rare disease (Q42303753) |
5
|
Yes |
porphyria (Q271759) |
5
|
Yes |
head and neck disease (Q55789477) |
4
|
Yes |
porphyria due to ALAD deficiency (Q419897) |
4
|
Yes |
syndrome (Q179630) |
4
|
Yes |
lysosomal storage disease with skeletal involvement (Q55788818) |
4
|
Yes |
chromosomal deletion syndrome (Q16918398) |
4
|
Yes |
pure or complex hereditary spastic paraplegia (Q55346012) |
3
|
Yes |
X-linked recessive disease (Q55010090) |
3
|
Yes |
blood coagulation disease (Q890200) |
3
|
Yes |
coagulation factor deficiency (Q18971506) |
3
|
Yes |
chromosomal duplication syndrome (Q21082526) |
3
|
Yes |
genetic syndromic intellectual disability (Q55785866) |
3
|
Yes |
Erythropoietic porphyria (Q3908491) |
2
|
Yes |
eye degenerative disease (Q18558225) |
2
|
Yes |
metabolic disease with corneal opacity (Q55789274) |
2
|
Yes |
inherited blood coagulation disease (Q18555031) |
2
|
Yes |
genetic nervous system disorder (Q55788492) |
2
|
Yes |
organic brain syndrome (Q360341) |
2
|
Yes |
skin disease (Q949302) |
2
|
Yes |
developmental anomaly of metabolic origin (Q55785399) |
2
|
Yes |
orofacial clefting syndrome (Q55785405) |
2
|
Yes |
rare syndrome with cardiac malformations (Q55785518) |
2
|
Yes |
rare genetic developmental defect during embryogenesis (Q55785846) |
2
|
Yes |
autosomal genetic disease (Q18553442) |
2
|
Yes |
X-linked disease (Q18553438) |
2
|
Yes |
X-linked intellectual disability (Q8041560) |
2
|
Yes |
hemophilia (Q134003) |
2
|
Yes |
partial duplication of the long arm of chromosome 17 (Q55786693) |
1
|
Yes |
partial duplication of the short arm of chromosome 16 (Q55786658) |
1
|
Yes |
syndrome with a cerebellar malformation as major feature (Q55786833) |
1
|
Yes |
syndrome with limb reduction defects (Q55787046) |
1
|
Yes |
rare genetic tremor disorder (Q55787262) |
1
|
Yes |
keratitis (Q757838) |
1
|
Yes |
autosomal dominant diffuse mutilating palmoplantar keratoderma (Q55787267) |
1
|
Yes |
mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (Q55787305) |
1
|
Yes |
other immunodeficiency syndromes due to defects in innate immunity (Q55787696) |
1
|
Yes |
hyper-IgE syndrome (Q55787700) |
1
|
Yes |
rare disorder with dystonia and other neurologic or systemic manifestation (Q55787834) |
1
|
Yes |
palmoplantar keratosis (Q7128426) |
1
|
Yes |
multiple abnormalities (Q6934911) |
1
|
Yes |
partial duplication of the long arm of chromosome 1 (Q55786662) |
1
|
Yes |
lysosomal storage disease (Q675010) |
1
|
Yes |
partial deletion of the long arm of chromosome 17 (Q55786617) |
1
|
Yes |
partial monosomy of the long arm of chromosome 10 (Q55786612) |
1
|
Yes |
neurofibromatoses (Q847605) |
1
|
Yes |
partial deletion of the long arm of chromosome 1 (Q55786603) |
1
|
Yes |
Auricular hypertrichosis (Q9003892) |
1
|
Yes |
liver disease (Q929737) |
1
|
Yes |
metal transport or utilization disorder with epilepsy (Q55786195) |
1
|
Yes |
syndrome associated with hypertrophic cardiomyopathy (Q55786146) |
1
|
Yes |
lysosomal disease with hypertrophic cardiomyopathy (Q55786143) |
1
|
Yes |
mitochondrial disease (Q935710) |
1
|
Yes |
multiple congenital anomalies/dysmorphic syndrome without intellectual disability (Q55785290) |
1
|
Yes |
rare genetic epilepsy (Q55785842) |
1
|
Yes |
genetic photodermatosis (Q55785838) |
1
|
Yes |
primary bone dysplasia with decreased bone density (Q55788815) |
1
|
Yes |
metabolic disease with cataract (Q55789275) |
1
|
Yes |
congenital vitreoretinal dysplasia (Q55789243) |
1
|
Yes |
hypoparathyroidism, familial isolated (Q55950233) |
1
|
Yes |
colobomatous and areolar dystrophy (Q55789239) |
1
|
Yes |
hyaline body myopathy (Q56014213) |
1
|
Yes |
syndromic cataract (Q55789221) |
1
|
Yes |
rare constitutional hemolytic anemia due to an enzyme disorder (Q55789125) |
1
|
Yes |
proximal spinal muscular atrophy (Q56014257) |
1
|
Yes |
acute hepatic porphyria (Q55788880) |
1
|
Yes |
nervous system malformations (Q584265) |
1
|
Yes |
adrenal hyperplasia (Q5898303) |
1
|
Yes |
nephropathy secondary to a storage or other metabolic disease (Q55788855) |
1
|
Yes |
syndromic renal or urinary tract malformation (Q55788832) |
1
|
Yes |
primary microcephaly (Q60195167) |
1
|
Yes |
rare male infertility due to testicular endocrine disorder (Q55788025) |
1
|
Yes |
primary bone dysplasia with increased bone density (Q55788814) |
1
|
Yes |
46,XY disorder of sex development due to testicular steroidogenesis defect (Q55788739) |
1
|
Yes |
syndromic genetic deafness (Q55788734) |
1
|
Yes |
polycystic kidney disease (Q60195313) |
1
|
Yes |
immune deficiency with skin involvement (Q55788607) |
1
|
Yes |
mucopolysaccharidosis with skin involvement (Q55788606) |
1
|
Yes |
inherited epidermolysis bullosa (Q55788582) |
1
|
Yes |
inborn disorder of energy metabolism (Q55788564) |
1
|
Yes |
ptosis (Q622427) |
1
|
Yes |
rare hemorrhagic disorder due to a constitutional coagulation factors defect (Q55788455) |
1
|
Yes |
dysostosis of genetic origin with limb anomaly as a major feature (Q55788097) |
1
|
Yes |
rare female infertility due to adrenal disorder of genetic origin (Q55788069) |
1
|
Yes |
genodermatosis (Q666075) |
1
|
Yes |
rare male infertility due to adrenal disorder of genetic origin (Q55788063) |
1
|
Yes |
nerve deafness (Q18967037) |
1
|
Yes |
neuro-cardio-facial-cutaneous syndromes (Q17074582) |
1
|
Yes |
mitochondrial DNA depletion syndrome (Q17144217) |
1
|
Yes |
neurodegeneration (Q1755122) |
1
|
Yes |
inherited metabolic disorder (Q1758393) |
1
|
Yes |
brachyolmia (Q18553406) |
1
|
Yes |
hyperimmunoglobulin syndrome (Q18555244) |
1
|
Yes |
external ear disease (Q18556075) |
1
|
Yes |
congenital nystagmus (Q18558184) |
1
|
Yes |
cerebral degeneration (Q1620193) |
1
|
Yes |
copper metabolism disease (Q19001238) |
1
|
Yes |
viral infectious disease (Q1928978) |
1
|
Yes |
iron overload (Q2025687) |
1
|
Yes |
chronic progressive external ophthalmoplegia (Q2026857) |
1
|
Yes |
tremor (Q223907) |
1
|
Yes |
Stickler syndrome (Q2288646) |
1
|
Yes |
amelia (Q23900578) |
1
|
Yes |
malformation syndrome (Q1401195) |
1
|
Yes |
muscular dystrophy (Q1137767) |
1
|
Yes |
Wolfram syndrome (Q1153641) |
1
|
Yes |
dacryocystitis (Q1157761) |
1
|
Yes |
deafness (Q12133) |
1
|
Yes |
vascular disease (Q1266890) |
1
|
Yes |
adrenogenital disease (Q13368382) |
1
|
Yes |
neurometabolic disease (Q1337418) |
1
|
Yes |
hypertrophic cardiomyopathy (Q1364270) |
1
|
Yes |
tumor of hematopoietic and lymphoid tissues (Q2509220) |
1
|
Yes |
aplasia cutis congenita (Q1424491) |
1
|
Yes |
osteopoikilosis (Q1477777) |
1
|
Yes |
steroid inherited metabolic disorder (Q15051314) |
1
|
No |
sequence variant (Q15304597) |
1
|
Yes |
autosomal dominant polycystic kidney disease (Q15443105) |
1
|
Yes |
hypoparathyroidism (Q1586088) |
1
|
Yes |
popliteal pterygium syndrome (Q1587881) |
1
|
Yes |
syndromic developmental defect of the eye (Q55785336) |
1
|
Yes |
sheep disease (Q53582403) |
1
|
Yes |
hereditary peripheral neuropathy (Q55012611) |
1
|
Yes |
GM2 gangliosidosis (Q5513691) |
1
|
Yes |
Huntington disease and related disorders (Q55345637) |
1
|
Yes |
genetic neurodegenerative disease with dementia (Q55346116) |
1
|
Yes |
hereditary hypercarotenemia and vitamin A deficiency (Q55780407) |
1
|
Yes |
rare metabolic liver disease (Q55785261) |
1
|
Yes |
multiple congenital anomalies/dysmorphic syndrome-intellectual disability (Q55785288) |
1
|
Yes |
distal muscular dystrophy (Q5282843) |
1
|
Yes |
malformation syndrome with short stature (Q55785400) |
1
|
Yes |
genetic hematologic disease (Q55785542) |
1
|
Yes |
rare abdominal surgical disease (Q55785601) |
1
|
Yes |
chromosomal anomaly with epilepsy as a major feature (Q55785627) |
1
|
Yes |
DNA repair defect other than combined T-cell and B-cell immunodeficiencies (Q55785655) |
1
|
Yes |
syndromic neurometabolic disease with X-linked intellectual disability (Q55785814) |
1
|
Yes |
polymalformative genetic syndrome with increased risk of developing cancer (Q55785832) |
1
|
Yes |
metal metabolism disorder (Q3281373) |
1
|
Yes |
sideroblastic anaemia P (Q2610084) |
1
|
Yes |
atopic dermatitis (Q268667) |
1
|
Yes |
familial hypercholesterolemia (Q2711291) |
1
|
Yes |
cutis laxa (Q2735907) |
1
|
Yes |
activated protein C resistance (Q296104) |
1
|
Yes |
photodermatosis (Q2986815) |
1
|
Yes |
primary immunodeficiency disease (Q3043160) |
1
|
Yes |
peroxisomal disease (Q3281322) |
1
|
Yes |
inherited skin tumor (Q55785837) |
1
|
Yes |
trinucleotide repeat disorder (Q356736) |
1
|
Yes |
epidermolysis bullosa dystrophica (Q3589131) |
1
|
Yes |
Hereditary sideroblastic anemia (Q3616631) |
1
|
Yes |
lymphoproliferative disorders (Q4165484) |
1
|
Yes |
2-hydroxyglutaric aciduria (Q4596888) |
1
|
Yes |
spondylocostal dysostosis (Q4821698) |
1
|
Yes |
Chromosome 15q partial deletion (Q5113911) |
1
|