Accepted |
Type |
Usage
|
Yes |
class of disease (Q112193867) |
8521
|
Yes |
developmental defect during embryogenesis (Q55788864) |
2242
|
Yes |
rare disease (Q929833) |
2204
|
Yes |
disease (Q12136) |
1302
|
Yes |
genetic disease (Q200779) |
555
|
Yes |
autosomal recessive disease (Q10267817) |
504
|
Yes |
head and neck disease (Q55789477) |
466
|
Yes |
autosomal dominant disease (Q18553439) |
458
|
Yes |
infectious disease (Q18123741) |
337
|
Yes |
syndrome (Q179630) |
285
|
Yes |
genetic syndromic intellectual disability (Q55785866) |
264
|
Yes |
designated intractable/rare disease (Q42303753) |
237
|
Yes |
multiple congenital anomalies/dysmorphic syndrome-intellectual disability (Q55785288) |
228
|
Yes |
rare genetic developmental defect during embryogenesis (Q55785846) |
172
|
Yes |
multiple congenital anomalies/dysmorphic syndrome without intellectual disability (Q55785290) |
126
|
Yes |
nervous system heredodegenerative disease (Q19001236) |
102
|
Yes |
X-linked intellectual disability (Q8041560) |
96
|
Yes |
viral infectious disease (Q1928978) |
85
|
Yes |
syndromic genetic deafness (Q55788734) |
83
|
Yes |
skin disease (Q949302) |
78
|
Yes |
autosomal recessive nonsyndromic deafness (Q18553310) |
78
|
Yes |
retinitis pigmentosa (Q847057) |
74
|
Yes |
neurometabolic disease (Q1337418) |
67
|
Yes |
X-linked recessive disease (Q55010090) |
66
|
Yes |
hereditary disorder (Q3311537) |
65
|
Yes |
hereditary spastic paraplegia (Q657516) |
64
|
Yes |
syndromic developmental defect of the eye (Q55785336) |
61
|
Yes |
chromosomal deletion syndrome (Q16918398) |
57
|
Yes |
orofacial clefting syndrome (Q55785405) |
56
|
Yes |
autosomal dominant nonsyndromic deafness (Q18553309) |
54
|
Yes |
eye disease (Q3041498) |
53
|
Yes |
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (Q55785289) |
52
|
Yes |
immune disorder (Q3843811) |
49
|
Yes |
osteochondrodysplasia (Q3251367) |
48
|
Yes |
eye degenerative disease (Q18558225) |
47
|
Yes |
cataract (Q127724) |
46
|
Yes |
rare genetic respiratory disease (Q55785522) |
45
|
Yes |
lung disease (Q3392853) |
45
|
Yes |
monogenic disease (Q1225194) |
45
|
Yes |
encephalopathy (Q576349) |
44
|
Yes |
congenital disorder (Q727096) |
43
|
Yes |
dilated cardiomyopathy (Q283656) |
41
|
Yes |
developmental anomaly of metabolic origin (Q55785399) |
41
|
Yes |
spinocerebellar ataxia (Q899726) |
41
|
Yes |
genetic nervous system disorder (Q55788492) |
40
|
Yes |
amino acid metabolic disorder (Q18558086) |
40
|
Yes |
intestinal disease (Q3055380) |
37
|
Yes |
syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy (Q55787048) |
36
|
Yes |
kidney disease (Q1054718) |
35
|
Yes |
primary bacterial infectious disease (Q18553247) |
35
|
Yes |
parasitic helminthiasis infectious disease (Q578994) |
35
|
Yes |
malformation syndrome with odontal and/or periodontal component (Q55785406) |
34
|
Yes |
syndromic craniosynostosis (Q55785407) |
33
|
Yes |
autosomal recessive complex spastic paraplegia (Q55345926) |
33
|
Yes |
primary ciliary dyskinesia (Q1690779) |
33
|
Yes |
syndromic renal or urinary tract malformation (Q55788832) |
32
|
Yes |
syndrome with brachydactyly (Q55788468) |
32
|
Yes |
arthropathy (Q708176) |
31
|
Yes |
syndromic anorectal malformation (Q55785353) |
31
|
Yes |
syndrome with limb reduction defects (Q55787046) |
31
|
Yes |
bacterial infectious disease (Q727028) |
31
|
Yes |
neurological disorder (Q3339235) |
30
|
Yes |
rare genetic epilepsy (Q55785842) |
30
|
Yes |
dysostosis of genetic origin with limb anomaly as a major feature (Q55788097) |
29
|
Yes |
congenital heart disease (Q939364) |
28
|
Yes |
zoonosis (Q182672) |
28
|
Yes |
inflammatory disease (Q3508753) |
28
|
Yes |
thoracic disease (Q18553676) |
27
|
Yes |
autosomal recessive cerebellar ataxia (Q4826996) |
27
|
Yes |
autosomal dominant cerebellar ataxia type I (Q55346087) |
26
|
Yes |
Charcot-Marie-Tooth disease type 2 (Q3281254) |
26
|
Yes |
neurodegeneration (Q1755122) |
26
|
Yes |
hypogonadotropic hypogonadism (Q30990102) |
25
|
Yes |
connective tissue disease (Q1779300) |
25
|
Yes |
ectodermal dysplasia (Q1323713) |
25
|
Yes |
genetic skin vascular disorder (Q55785835) |
24
|
Yes |
secondary glomerular disease (Q55788835) |
24
|
Yes |
syndromic urogenital tract malformation (Q55785600) |
23
|
Yes |
brachydactyly (Q896643) |
23
|
Yes |
ring chromosome (Q474261) |
23
|
Yes |
autosomal recessive limb-girdle muscular dystrophy (Q27429766) |
23
|
Yes |
type-1 diabetes (Q124407) |
23
|
Yes |
autoimmune disease (Q8084905) |
22
|
Yes |
muscular disease (Q692536) |
22
|
Yes |
rare genetic immune disease (Q55785867) |
22
|
Yes |
inherited metabolic disorder (Q1758393) |
21
|
Yes |
colonic disease (Q18556754) |
21
|
Yes |
liver disease (Q929737) |
21
|
Yes |
osteogenesis imperfecta (Q749409) |
21
|
Yes |
primary immunodeficiency disease (Q3043160) |
21
|
Yes |
polymalformative genetic syndrome with increased risk of developing cancer (Q55785832) |
21
|
Yes |
malformation syndrome with short stature (Q55785400) |
21
|
Yes |
severe combined immunodeficiency (Q1334408) |
20
|
Yes |
syndromic dyslipidemia (Q55785804) |
20
|
Yes |
rare genetic bone disease (Q55785844) |
20
|
Yes |
dystonia (Q906492) |
20
|
Yes |
branchial arch or oral-acral syndrome (Q55785404) |
20
|
Yes |
hereditary retinal dystrophy (Q18557955) |
20
|
Yes |
corneal disease (Q10526382) |
20
|
Yes |
inherited blood coagulation disease (Q18555031) |
20
|
Yes |
amelogenesis imperfecta (Q461854) |
20
|
Yes |
X-linked dominant disease (Q55010089) |
20
|
Yes |
syndromic intellectual disability (Q18553536) |
20
|
Yes |
neuronal ceroid lipofuscinosis (Q4358039) |
20
|
Yes |
overgrowth syndrome (Q7113674) |
19
|
Yes |
ptosis (Q622427) |
19
|
Yes |
genetic peripheral neuropathy (Q55789138) |
19
|
Yes |
fundus dystrophy (Q5811451) |
19
|
Yes |
syndromic obesity (Q55786310) |
19
|
Yes |
partial autosomal monosomy (Q55789085) |
19
|
Yes |
Bardet-Biedl syndrome (Q1678281) |
19
|
Yes |
total autosomal trisomy (Q55789082) |
19
|
Yes |
mitochondrial disease (Q935710) |
19
|
Yes |
rare syndrome with cardiac malformations (Q55785518) |
19
|
Yes |
carbohydrate metabolic disorder (Q6013981) |
18
|
Yes |
glycogen storage disease (Q1421738) |
18
|
Yes |
primary bone dysplasia with increased bone density (Q55788814) |
18
|
Yes |
chromosomal duplication syndrome (Q21082526) |
18
|
Yes |
peripheral neuropathy (Q945238) |
18
|
Yes |
respiratory system abnormality (Q18975820) |
18
|
Yes |
spinal disease (Q7577457) |
18
|
Yes |
notifiable disease (Q314676) |
18
|
Yes |
vascular skin disease (Q18558156) |
18
|
Yes |
rare skin disease (Q55788696) |
17
|
Yes |
rare nervous system tumor (Q55789072) |
17
|
Yes |
central nervous system disease (Q5062122) |
17
|
Yes |
vascular disease (Q1266890) |
17
|
Yes |
mental disorder (Q12135) |
17
|
Yes |
malformation syndrome (Q1401195) |
17
|
Yes |
rare genetic endocrine disease (Q55785525) |
17
|
Yes |
lipid metabolism disorder (Q1476525) |
17
|
Yes |
gastrointestinal system disease (Q2300099) |
17
|
Yes |
in situ carcinoma (Q1035645) |
17
|
Yes |
Leber congenital amaurosis (Q1811132) |
17
|
Yes |
genetic cardiac rhythm disease (Q55785258) |
16
|
Yes |
syndrome with combined immunodeficiency (Q55787698) |
16
|
Yes |
syndrome with disorder of sex development of gynecological interest (Q55787661) |
16
|
Yes |
lacrimal apparatus disease (Q18554657) |
16
|
Yes |
endocrine gland cancer (Q18554878) |
16
|
Yes |
rare genetic vascular tumor (Q55788290) |
16
|
Yes |
nose and cavum anomaly (Q55785515) |
16
|
Yes |
retinal disease (Q550455) |
16
|
Yes |
neglected tropical disease (Q929451) |
16
|
Yes |
syndromic cataract (Q55789221) |
16
|
Yes |
malformation syndrome with skin/mucosae involvement (Q55785402) |
16
|
Yes |
carcinoma (Q33525) |
16
|
Yes |
congenital hemolytic anemia (Q5160435) |
16
|
Yes |
syndrome with microcephaly as major feature (Q55786834) |
16
|
Yes |
hereditary neoplastic syndromes (Q1348398) |
16
|
Yes |
spondyloepimetaphyseal dysplasia (Q18966185) |
16
|
Yes |
rare dyslipidemia (Q55785266) |
16
|
Yes |
upper respiratory tract disease (Q18558209) |
15
|
Yes |
rare metabolic liver disease (Q55785261) |
15
|
Yes |
X-linked disease (Q18553438) |
15
|
Yes |
rare genetic gynecological and obstetrical diseases (Q55785863) |
15
|
Yes |
blood platelet disease (Q2429620) |
15
|
Yes |
infectious disease with epilepsy (Q55785635) |
15
|
Yes |
genetic epidermal disorder (Q55785833) |
15
|
Yes |
uniparental disomy of maternal origin (Q55789087) |
14
|
Yes |
blood coagulation disease (Q890200) |
14
|
Yes |
lysosomal storage disease (Q675010) |
14
|
Yes |
metabolic disease with intestinal involvement (Q55785312) |
14
|
Yes |
progeroid syndrome (Q6139748) |
14
|
Yes |
craniosynostosis (Q378183) |
14
|
Yes |
penile disease (Q18554834) |
14
|
Yes |
autoimmune skin disease (Q12504769) |
14
|
Yes |
syndromic glaucoma (Q55789219) |
14
|
Yes |
rare intoxication (Q55785342) |
14
|
Yes |
nevus (Q692077) |
14
|
Yes |
primary bone dysplasia with decreased bone density (Q55788815) |
14
|
Yes |
type 2 collagen-related bone disorder (Q55788797) |
14
|
Yes |
non-severe combined immunodeficiency (Q55788363) |
14
|
Yes |
palmoplantar keratosis (Q7128426) |
14
|
Yes |
long QT syndrome (Q653924) |
14
|
Yes |
pigmentation disorder (Q7193408) |
14
|
Yes |
hyperpigmentation of the skin (Q55788594) |
14
|
Yes |
autosomal genetic disease (Q18553442) |
14
|
Yes |
syndrome or malformation associated with head and neck malformations (Q55785513) |
14
|
Yes |
tooth pathology (Q5259414) |
14
|
Yes |
drug-induced abnormality (Q5308960) |
14
|
Yes |
IgG4-related disease (Q11039483) |
14
|
Yes |
spondylometaphyseal dysplasia (Q19309317) |
14
|
Yes |
inherited tumor (Q1117773) |
14
|
Yes |
arrhythmogenic right ventricular cardiomyopathy (Q2555727) |
14
|
Yes |
Ehlers-Danlos syndrome (Q1141499) |
14
|
Yes |
female reproductive system disease (Q5442760) |
13
|
Yes |
bone disease (Q4941552) |
13
|
Yes |
autoimmune disease of musculoskeletal system (Q18553609) |
13
|
Yes |
other syndrome with a central nervous system malformation as major feature (Q55786835) |
13
|
Yes |
metabolic disease with dementia (Q55789148) |
13
|
Yes |
syndrome with 46,XY disorder of sex development (Q55789077) |
13
|
Yes |
combined oxidative phosphorylation deficiency (Q18987134) |
13
|
Yes |
rare genetic diabetes mellitus (Q55785854) |
13
|
Yes |
autosomal recessive congenital ichthyosis (Q27982006) |
13
|
Yes |
central nervous system and retinal vascular disease (Q55788489) |
13
|
Yes |
teratogenic Pierre robin syndrome (Q55785395) |
13
|
Yes |
arbovirosis (Q2859732) |
13
|
Yes |
nephropathy secondary to a storage or other metabolic disease (Q55788855) |
13
|
Yes |
congenital disorder of amino acid metabolism (Q3281372) |
13
|
Yes |
genetic cardiac disease (Q55789068) |
13
|
Yes |
syndromic hereditary optic neuropathy (Q55788215) |
13
|
Yes |
chromosomal anomaly with cataract (Q55789222) |
13
|
Yes |
non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature (Q55787877) |
13
|
Yes |
primary bone dysplasia with disorganized development of skeletal components (Q55788820) |
13
|
Yes |
asphyxiating thoracic dysplasia (Q4807981) |
13
|
Yes |
syndromic diaphragmatic or abdominal wall malformation (Q55785334) |
13
|
Yes |
mesomelic and rhizo-mesomelic dysplasia (Q55788809) |
13
|
Yes |
skin infection (Q2458539) |
12
|
Yes |
lysosomal storage disease with skeletal involvement (Q55788818) |
12
|
Yes |
occupational disease (Q637816) |
12
|
Yes |
inflammation (Q101991) |
12
|
Yes |
combined immunodeficiency (Q5150906) |
12
|
Yes |
rare acquired eye disease (Q55785265) |
12
|
Yes |
complement deficiency (Q5156409) |
12
|
Yes |
neurodegeneration with brain iron accumulation (Q16892735) |
12
|
Yes |
chromosomal disease (Q4501577) |
12
|
Yes |
Charcot-Marie-Tooth disease intermediate type (Q18553298) |
12
|
Yes |
syndromic neurometabolic disease with X-linked intellectual disability (Q55785814) |
12
|
Yes |
mouth disease (Q2508462) |
12
|
Yes |
leukodystrophy (Q1821559) |
12
|
Yes |
bladder disease (Q6066379) |
12
|
Yes |
syndrome with a cerebellar malformation as major feature (Q55786833) |
12
|
Yes |
congenital myopathy (Q112412) |
12
|
Yes |
atrial heart septal defect (Q757749) |
12
|
Yes |
cerebral degeneration (Q1620193) |
12
|
Yes |
muscular glycogenosis (Q55785945) |
12
|
Yes |
primary lymphedema with associated anomalies (Q55788282) |
12
|
Yes |
urethral disease (Q18557550) |
12
|
Yes |
urinary system disease (Q7900883) |
12
|
Yes |
endocrine system disease (Q2661443) |
12
|
Yes |
mosquito-borne disease (Q6916469) |
12
|
Yes |
other acquired skin disease (Q55788714) |
12
|
Yes |
classic organic aciduria (Q55788539) |
12
|
Yes |
hypertrophic cardiomyopathy (Q1364270) |
12
|
Yes |
syndromic lymphedema (Q55788697) |
12
|
Yes |
eyelid disease (Q18556729) |
12
|
Yes |
Alzheimer's disease (Q11081) |
12
|
Yes |
nutritional deficiency disease (Q1890194) |
12
|
Yes |
esophageal disease (Q2912193) |
12
|
Yes |
Charcot-Marie-Tooth disease type 4 (Q3281259) |
12
|
Yes |
genetic otorhinolaryngologic disease (Q55788308) |
12
|
Yes |
syndromic microphthalmia (Q29982037) |
12
|
Yes |
deformity of chest and rib (Q25377767) |
12
|
Yes |
acute myeloid leukemia (Q264118) |
12
|
Yes |
genetic movement disorder (Q55785843) |
11
|
Yes |
hepatic vascular disease (Q18555173) |
11
|
Yes |
male reproductive system disease (Q6742925) |
11
|
Yes |
Epilepsy in children (Q5382985) |
11
|
Yes |
genetic deafness (Q3505181) |
11
|
Yes |
keratitis (Q757838) |
11
|
Yes |
dysostosis with predominant vertebral and costal involvement (Q55788823) |
11
|
Yes |
oral-facial-digital syndrome (Q3508783) |
11
|
Yes |
thyroid gland disease (Q6673122) |
11
|
Yes |
arthritis (Q170990) |
11
|
Yes |
movement disorders (Q2608695) |
11
|
Yes |
diffuse large B-cell lymphoma (Q2626074) |
11
|
Yes |
non-syndromic pontocerebellar hypoplasia (Q1698867) |
11
|
Yes |
early-onset autosomal dominant Alzheimer disease (Q55345929) |
11
|
Yes |
central nervous system vascular malformation (Q54945930) |
11
|
Yes |
brain cancer (Q9303627) |
11
|
Yes |
non-syndromic respiratory or mediastinal malformation (Q55785339) |
11
|
Yes |
epithelial and subepithelial dystrophy (Q21154080) |
11
|
Yes |
adverse drug reaction (Q45959) |
11
|
Yes |
cerebral malformation with epilepsy (Q55785630) |
11
|
Yes |
amyloidosis (Q816798) |
11
|
Yes |
motor neuron disease (Q3221083) |
11
|
Yes |
rare abdominal surgical disease (Q55785601) |
11
|
Yes |
strabismus (Q179951) |
11
|
Yes |
mitochondrial myopathy (Q6881881) |
11
|
Yes |
primary bone dysplasia with multiple joint dislocations (Q55788812) |
11
|
Yes |
congenital muscular dystrophy (Q1321884) |
11
|
Yes |
connective tissue neoplasm (Q3542012) |
11
|
Yes |
congenital disorder of glycosylation (Q1125675) |
11
|
Yes |
pancreas disease (Q7130407) |
11
|
Yes |
larynx anomaly (Q55785516) |
11
|
Yes |
Huntington's disease-like syndrome (Q24977062) |
11
|
Yes |
unclassified primitive or secondary maculopathy (Q55789241) |
11
|
Yes |
uterine corpus cancer (Q18558133) |
11
|
Yes |
bone development disease (Q18553737) |
11
|
Yes |
subcutaneous tissue disease (Q55788601) |
11
|
Yes |
foot diseases (Q5282137) |
11
|
Yes |
fungal infectious disease (Q464067) |
11
|
Yes |
rare bone disease (Q55788795) |
11
|
Yes |
personality disorder (Q270673) |
11
|
Yes |
dysostosis (Q1269307) |
11
|
Yes |
genetic neurodegenerative disease with dementia (Q55346116) |
11
|
Yes |
autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature (Q55789116) |
11
|
Yes |
autoimmune connective tissue disorder (Q2208472) |
11
|
Yes |
genetic systemic or rheumatologic disease (Q55786852) |
11
|
Yes |
endemic disease (Q506680) |
11
|
Yes |
skin tumor or hamartoma (Q55788604) |
11
|
Yes |
heart disease (Q190805) |
11
|
Yes |
conjunctival disease (Q18556249) |
10
|
Yes |
spinal muscular atrophy (Q580290) |
10
|
Yes |
genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature (Q55786837) |
10
|
Yes |
heart conduction disease (Q1361515) |
10
|
Yes |
metabolic disease (Q2351083) |
10
|
Yes |
pure or complex autosomal recessive spastic paraplegia (Q55346014) |
10
|
Yes |
optic atrophy (Q3629049) |
10
|
Yes |
lymphoproliferative disorders (Q4165484) |
10
|
Yes |
rare hemorrhagic disorder due to a constitutional coagulation factors defect (Q55788455) |
10
|
Yes |
iron overload (Q2025687) |
10
|
Yes |
dermatitis (Q229256) |
10
|
Yes |
metal metabolism disorder (Q3281373) |
10
|
Yes |
syndromic corneal dystrophy (Q55789212) |
10
|
Yes |
genetic vascular anomaly (Q55786073) |
10
|
Yes |
optic nerve disease (Q2879095) |
10
|
Yes |
stomach disease (Q175827) |
10
|
Yes |
complex hereditary spastic paraplegia (Q55345931) |
10
|
Yes |
epidermolysis bullosa simplex (Q3124960) |
10
|
Yes |
rare disease involving intestinal motility (Q55785311) |
10
|
Yes |
focal, segmental or multifocal dystonia (Q55785869) |
10
|
Yes |
genodermatosis (Q666075) |
10
|
Yes |
spastic ataxia (Q21082498) |
10
|
Yes |
hemolytic anemia (Q1145668) |
10
|
Yes |
parasitic protozoa infectious disease (Q353172) |
10
|
Yes |
rare cutaneous lichen planus (Q55786412) |
10
|
Yes |
vitreoretinal degeneration (Q55346101) |
10
|
Yes |
uniparental disomy of paternal origin (Q55789089) |
10
|
Yes |
vaginal disease (Q18211693) |
10
|
Yes |
viral encephalitis (Q3053951) |
10
|
Yes |
bullous skin disease (Q18557957) |
10
|
Yes |
autosomal recessive axonal hereditary motor and sensory neuropathy (Q16662546) |
10
|
Yes |
Noonan syndrome (Q1543446) |
10
|
Yes |
multiple metaphyseal dysplasia (Q55788805) |
10
|
Yes |
sphingolipidosis (Q2309612) |
10
|
Yes |
anxiety disorder (Q544006) |
10
|
Yes |
split hand-foot malformation (Q30989072) |
10
|
Yes |
cervix disease (Q18555046) |
10
|
Yes |
hemoglobinopathy (Q1642147) |
10
|
Yes |
genetic otorhinolaryngological malformation (Q55788178) |
10
|
Yes |
hair diseases (Q2989168) |
10
|
Yes |
hypomyelinating leukodystrophy (Q28065591) |
10
|
Yes |
myofibrillar myopathy (Q23893414) |
9
|
Yes |
amino acid transport disorder (Q471778) |
9
|
Yes |
microphthalmia (Q1557239) |
9
|
Yes |
thrombophilia (Q1570013) |
9
|
Yes |
primary glomerular disease (Q55785293) |
9
|
Yes |
cysts and fistulae of the face and oral cavity (Q55785496) |
9
|
Yes |
autosomal recessive metabolic cerebellar ataxia (Q55346092) |
9
|
Yes |
basal epidermolysis bullosa simplex (Q55785544) |
9
|
Yes |
genetic hematologic disease (Q55785542) |
9
|
Yes |
orbital disease (Q18558098) |
9
|
Yes |
genetic hypertension (Q55785524) |
9
|
Yes |
leukocyte disease (Q18558143) |
9
|
Yes |
myositis (Q1433212) |
9
|
Yes |
rare genetic intestinal disease (Q55785596) |
9
|
Yes |
spinal cord disease (Q2303951) |
9
|
Yes |
flavivirus infectious disease (Q19001421) |
9
|
Yes |
autosomal dominant cerebellar ataxia type III (Q55346088) |
9
|
Yes |
Brugada syndrome (Q599683) |
9
|
Yes |
epilepsy syndrome (Q55785625) |
9
|
Yes |
chromosomal anomaly with epilepsy as a major feature (Q55785627) |
9
|
Yes |
specific developmental disorder (Q7574983) |
9
|
Yes |
lissencephaly (Q1544416) |
9
|
Yes |
rare parenchymal liver disease (Q55785260) |
9
|
Yes |
cyanotic heart defect (Q2186829) |
9
|
Yes |
colitis (Q2453464) |
9
|
Yes |
head and neck cancer (Q1783924) |
9
|
Yes |
tubulopathy (Q1048573) |
9
|
Yes |
mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (Q55786430) |
9
|
Yes |
anemia (Q5445) |
9
|
Yes |
autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature (Q55787268) |
9
|
Yes |
mouth cancer (Q1143025) |
9
|
Yes |
hemolytic anemia due to a disorder of glycolytic enzymes (Q55789127) |
9
|
Yes |
uterine disease (Q18555940) |
9
|
Yes |
complication of pregnancy, childbirth and the puerperium (Q18975815) |
9
|
Yes |
rare respiratory disease (Q55789042) |
9
|
Yes |
vasculitis (Q644318) |
9
|
Yes |
X-linked cerebellar ataxia (Q21082499) |
9
|
Yes |
ectoparasitism (Q5334259) |
9
|
Yes |
malformation syndrome with hamartosis (Q55789095) |
9
|
Yes |
knee disorder (Q18971535) |
9
|
Yes |
nail disease (Q2084035) |
9
|
Yes |
extrinsic allergic alveolitis (Q35890) |
9
|
Yes |
epidermal disease (Q55788577) |
9
|
Yes |
epidermolysis bullosa dystrophica (Q3589131) |
9
|
Yes |
other epidermal disorder (Q55788580) |
9
|
Yes |
dermis elastic tissue disorder (Q55788598) |
9
|
Yes |
syndromic nail anomaly (Q55788590) |
9
|
Yes |
muscular dystrophy (Q1137767) |
9
|
Yes |
reflex epilepsy (Q2895354) |
9
|
Yes |
schizophrenia (Q41112) |
9
|
Yes |
multiple abnormalities (Q6934911) |
9
|
Yes |
squamous cell carcinoma (Q681817) |
9
|
Yes |
endometriosis (Q205764) |
9
|
Yes |
hypergonadotropic hypogonadism (Q5958036) |
9
|
Yes |
sleep disorder (Q177190) |
9
|
Yes |
congenital mitral valve insufficiency and/or stenosis (Q55788892) |
9
|
Yes |
syndactyly (Q1360044) |
9
|
Yes |
Spondylodysplastic dysplasia (Q55788806) |
9
|
Yes |
syndrome associated with dilated cardiomyopathy (Q55786153) |
9
|
Yes |
astrocytoma (Q177755) |
9
|
Yes |
breast benign neoplasm (Q18553643) |
8
|
Yes |
aortic arch defects (Q55785350) |
8
|
Yes |
sarcoma (Q223911) |
8
|
Yes |
metabolic disease with cataract (Q55789275) |
8
|
Yes |
renal tubular transport disease (Q6013986) |
8
|
Yes |
testicular disease (Q7705854) |
8
|
Yes |
hypothyroidism (Q16501) |
8
|
Yes |
rare genetic eye disease (Q55785254) |
8
|
Yes |
placenta disease (Q7200296) |
8
|
Yes |
genetic lipodystrophy (Q55789109) |
8
|
Yes |
Chromosome 15q partial deletion (Q5113911) |
8
|
Yes |
acquired metabolic disease (Q18553699) |
8
|
Yes |
alphavirus infections (Q4735280) |
8
|
Yes |
bladder cancer (Q504775) |
8
|
Yes |
arthrogryposis multiplex congenita (Q55785297) |
8
|
Yes |
corneal degeneration (Q18554311) |
8
|
Yes |
nematode infection (Q2072680) |
8
|
Yes |
tongue disease (Q7107436) |
8
|
Yes |
Slender bone dysplasia (Q55788811) |
8
|
Yes |
mineral metabolism disease (Q18553032) |
8
|
Yes |
adrenal gland disease (Q4684717) |
8
|
Yes |
organic acidemia (Q1547640) |
8
|
Yes |
mesomelia (Q19597858) |
8
|
Yes |
gastrointestinal system cancer (Q5526839) |
8
|
Yes |
hydrocephalus (Q193003) |
8
|
Yes |
stromal dystrophy (Q21154082) |
8
|
Yes |
chondrodysplasia punctata (Q1076060) |
8
|
Yes |
methylmalonic acidemia (Q742500) |
8
|
Yes |
atypical hemolytic uremic syndrome (Q17165460) |
8
|
Yes |
xeroderma pigmentosum (Q612693) |
8
|
Yes |
respiratory disease (Q3286546) |
8
|
Yes |
insulin resistance (Q1053470) |
8
|
Yes |
non-syndromic terminal limb defects (Q55787039) |
8
|
Yes |
Usher syndrome type 1 (Q32143464) |
8
|
Yes |
Charcot–Marie–Tooth disease (Q1052687) |
8
|
Yes |
parasitic skin disease (Q54911414) |
8
|
Yes |
autosomal dominant non-syndromic intellectual disability (Q19587382) |
8
|
Yes |
acrofacial dysostosis (Q21082523) |
8
|
Yes |
congenital limb deformity (Q5160441) |
8
|
Yes |
vulvar disease (Q18211751) |
8
|
Yes |
splenic disease (Q7578540) |
8
|
Yes |
intractable diarrhea of infancy (Q55788495) |
8
|
Yes |
aortic disease (Q18556675) |
8
|
Yes |
tick-borne disease (Q184243) |
8
|
Yes |
infectious disease of the nervous system (Q10336461) |
8
|
Yes |
middle ear disease (Q18556619) |
8
|
Yes |
sex chromosome disorder (Q7458487) |
8
|
Yes |
isolated microphthalmia (Q55762665) |
8
|
Yes |
inborn disorder of purine metabolism (Q55788557) |
8
|
Yes |
chromosomal disease with overgrowth (Q55788828) |
8
|
Yes |
episodic ataxia (Q21503282) |
8
|
Yes |
pleural disease (Q7204732) |
8
|
Yes |
organic brain syndrome (Q360341) |
8
|
Yes |
pneumoconiosis (Q651223) |
8
|
Yes |
vein disorder (Q7918687) |
8
|
Yes |
systemic disease (Q1414805) |
8
|
Yes |
autosomal dominant limb-girdle muscular dystrophy (Q27429765) |
8
|
Yes |
pneumonia (Q12192) |
8
|
Yes |
artery disease (Q18965518) |
8
|
Yes |
rare genetic adrenal disease (Q55785858) |
8
|
Yes |
congenital disorder of glycosylation with neurological involvement (Q55787867) |
8
|
Yes |
hypertrichosis (Q595010) |
8
|
Yes |
photodermatosis (Q2986815) |
8
|
Yes |
primary bone dysplasia (Q55787804) |
8
|
Yes |
rare rheumatologic disease (Q55785828) |
8
|
Yes |
mitochondrial disease with hypertrophic cardiomyopathy (Q55786144) |
8
|
Yes |
inherited renal tubular disease (Q55785848) |
8
|
Yes |
opportunistic mycosis (Q18555090) |
8
|
Yes |
Bartter disease (Q790971) |
8
|
Yes |
holoprosencephaly (Q1459821) |
8
|
Yes |
persistent combined dystonia (Q55787958) |
8
|
Yes |
nervous system malformations (Q584265) |
8
|
Yes |
lichen planus (Q848371) |
8
|
Yes |
progressive muscular dystrophy (Q55785935) |
8
|
Yes |
leukemia (Q29496) |
8
|
Yes |
diabetes (Q12206) |
8
|
Yes |
monogenic disease with epilepsy (Q55785628) |
8
|
Yes |
renal cell carcinoma (Q1164529) |
8
|
Yes |
inflammatory bowel diseases (Q917447) |
8
|
No |
symptom or sign (Q112965645) |
8
|
Yes |
congenital tricuspid malformation (Q55789283) |
8
|
Yes |
blepharitis (Q845698) |
8
|
Yes |
neuromuscular disease with dilated cardiomyopathy (Q55786149) |
8
|
Yes |
eye inflammation (Q2971524) |
8
|
Yes |
inner ear disease (Q18555242) |
8
|
Yes |
schizophrenia spectrum disorder (Q2903417) |
8
|
Yes |
syndrome associated with hypertrophic cardiomyopathy (Q55786146) |
8
|
Yes |
syndromic diaphragmatic or thoracic malformation (Q55785792) |
8
|
Yes |
syndromic neurometabolic disease with non-X-linked intellectual disability (Q55785813) |
8
|
Yes |
rare genetic odontal or periodontal disorder (Q55788118) |
7
|
Yes |
hemangioma (Q861028) |
7
|
Yes |
macular degeneration (Q27429789) |
7
|
Yes |
non-syndromic renal or urinary tract malformation (Q55788831) |
7
|
Yes |
autosomal dominant pure spastic paraplegia (Q55345925) |
7
|
Yes |
anal disease (Q56603543) |
7
|
Yes |
autosomal dominant complex spastic paraplegia (Q55345924) |
7
|
Yes |
ovarian disease (Q7113244) |
7
|
Yes |
corneal dystrophy (Q2044949) |
7
|
Yes |
corneal ulcer (Q1628473) |
7
|
Yes |
baldness (Q181391) |
7
|
Yes |
congenital disorder of glycosylation with developmental anomaly (Q55787920) |
7
|
Yes |
tympanic membrane disease (Q18557008) |
7
|
Yes |
pure or complex autosomal dominant spastic paraplegia (Q55346013) |
7
|
Yes |
coronary artery disease (Q844935) |
7
|
Yes |
adult neuronal ceroid lipofuscinosis (Q55346074) |
7
|
Yes |
junctional epidermolysis bullosa (Q3726862) |
7
|
Yes |
respiratory system cancer (Q7315926) |
7
|
Yes |
neural tube defect (Q548213) |
7
|
Yes |
anthroponotic disease (Q1049711) |
7
|
Yes |
syndromic myopia (Q55789206) |
7
|
Yes |
autosomal recessive cerebellar ataxia due to a DNA repair defect (Q55346093) |
7
|
Yes |
congenital diarrhea (Q28065579) |
7
|
Yes |
disorder of glycolysis (Q55787283) |
7
|
Yes |
midface dysplasia (Q3725646) |
7
|
Yes |
genetic central nervous system and retinal vascular disease (Q55785839) |
7
|
Yes |
amelia (Q23900578) |
7
|
Yes |
focal segmental glomerulosclerosis (Q1435223) |
7
|
Yes |
other dermis disorder (Q55788600) |
7
|
Yes |
substance abuse (Q3184856) |
7
|
Yes |
male infertility (Q280156) |
7
|
Yes |
keratosis (Q3667186) |
7
|
Yes |
Niemann–Pick disease, type C (Q2067267) |
7
|
Yes |
benign neoplasms by histologic type (Q18553645) |
7
|
Yes |
tracheal disease (Q18555344) |
7
|
Yes |
non-Langerhans-cell histiocytosis (Q3136521) |
7
|
Yes |
Meckel syndrome (Q1915681) |
7
|
Yes |
uveitis (Q280027) |
7
|
Yes |
channelopathy (Q2936142) |
7
|
Yes |
pulmonary arterial hypertension associated with another disease (Q55786873) |
7
|
Yes |
mitochondrial disease with epilepsy (Q55786197) |
7
|
Yes |
atypical pneumonia (Q2633267) |
7
|
Yes |
non-dystrophic myopathy (Q55785938) |
7
|
Yes |
Epstein-Barr virus-associated malignant lymphoproliferative disorder (Q55786997) |
7
|
Yes |
disease of anatomical entity (Q18557436) |
7
|
Yes |
idiopathic inflammatory myopathy (Q55789135) |
7
|
Yes |
arenavirus hemorrhagic fever (Q19001357) |
7
|
Yes |
mitochondrial disease with peripheral neuropathy (Q55786198) |
7
|
Yes |
botulism (Q154865) |
7
|
Yes |
mitochondrial disease with eye involvement (Q55789259) |
7
|
Yes |
ichthyosis (Q523893) |
7
|
Yes |
mitochondrial DNA depletion syndrome (Q17144217) |
7
|
Yes |
chromosome 2q deletion (Q39048665) |
7
|
Yes |
infectious embryofetopathy (Q55786275) |
7
|
Yes |
rare hemorrhagic disorder due to a qualitative platelet defect (Q55786859) |
7
|
Yes |
syndromic uterovaginal malformation (Q55785768) |
7
|
Yes |
impulse control disorder (Q1201835) |
7
|
Yes |
salivary gland disease (Q17152566) |
7
|
Yes |
3-methylglutaconic aciduria (Q3598794) |
7
|
Yes |
lipodystrophy (Q1538213) |
7
|
Yes |
vitamin metabolic disorder (Q18553423) |
7
|
Yes |
sulfuraminoacidemia (Q19001322) |
7
|
Yes |
rare developmental defect with connective tissue involvement (Q55785403) |
7
|
Yes |
thrombocytopenia (Q585285) |
7
|
Yes |
T+ B+ severe combined immunodeficiency (Q55787980) |
7
|
Yes |
Poxviridae infectious disease (Q12353899) |
7
|
Yes |
syndromic hypothyroidism (Q55785710) |
7
|
Yes |
rare genetic renal disease (Q55789069) |
7
|
Yes |
pulmonary artery or pulmonary branch anomaly (Q55789281) |
7
|
Yes |
osteochondrosis (Q1154055) |
7
|
Yes |
mucopolysaccharidosis (Q1479681) |
7
|
Yes |
bacterial skin disease (Q11864371) |
7
|
Yes |
pemphigus (Q1483214) |
7
|
Yes |
acromelic dysplasia (Q55788807) |
7
|
Yes |
autoimmune hemolytic anemia (Q28814) |
7
|
Yes |
autoinflammatory syndrome with skin involvement (Q55787013) |
7
|
Yes |
cutis laxa (Q2735907) |
7
|
Yes |
commensal bacterial infectious disease (Q18553248) |
7
|
Yes |
female reproductive organ cancer (Q18554220) |
7
|
Yes |
glucose metabolism disease (Q18556224) |
7
|
Yes |
chronic condition (Q383126) |
7
|
Yes |
myelodysplastic syndrome (Q954625) |
7
|
Yes |
Jansky–Bielschowsky disease (Q4354940) |
7
|
Yes |
complex chromosomal rearrangement (Q55786712) |
7
|
Yes |
transmissible spongiform encephalopathy (Q703961) |
7
|
Yes |
teeth hard tissue disease (Q18555006) |
7
|
Yes |
rare disease with autism (Q55785790) |
6
|
Yes |
Charcot-Marie-Tooth disease type X (Q3281260) |
6
|
Yes |
joint formation defects (Q55787045) |
6
|
Yes |
lissencephaly with cerebellar hypoplasia (Q55788668) |
6
|
Yes |
constitutional neutropenia with extra-hematopoietic manifestations (Q55787695) |
6
|
Yes |
uterine cancer (Q1209744) |
6
|
Yes |
alopecia (Q2697787) |
6
|
Yes |
visual impairment (Q737460) |
6
|
Yes |
other genetic dermis disorder (Q55788349) |
6
|
Yes |
acromesomelic dysplasia (Q18553752) |
6
|
Yes |
dementia (Q83030) |
6
|
Yes |
genetic alopecia (Q55789468) |
6
|
Yes |
juvenile neuronal ceroid lipofuscinosis (Q1753778) |
6
|
Yes |
other rare diabetes mellitus (Q55785796) |
6
|
Yes |
skin hemangioma (Q18556451) |
6
|
Yes |
rickettsiosis (Q646664) |
6
|
Yes |
primary systemic mycosis (Q18553244) |
6
|
Yes |
autosomal dominant distal myopathy (Q55785936) |
6
|
Yes |
syndrome with 46,XX disorder of sex development (Q55787628) |
6
|
Yes |
lethal chondrodysplasia (Q55788829) |
6
|
Yes |
rare otorhinolaryngologic disease (Q55789056) |
6
|
Yes |
oligosaccharidosis (Q55788568) |
6
|
Yes |
syndrome with synostosis or other joint formation defect (Q55788827) |
6
|
Yes |
adenocarcinoma (Q356033) |
6
|
Yes |
chromosome X structural anomaly (Q55789094) |
6
|
Yes |
cystitis (Q246084) |
6
|
Yes |
Distal hereditary motor neuropathies (Q5282840) |
6
|
Yes |
female breast cancer (Q18553389) |
6
|
Yes |
organ system cancer (Q18553400) |
6
|
Yes |
prostate disease (Q18556445) |
6
|
Yes |
isolated genetic hair shaft abnormality (Q55788586) |
6
|
Yes |
cranial nerve disease (Q5182126) |
6
|
Yes |
interstitial lung disease (Q1153419) |
6
|
Yes |
craniofacial disease (Q5182134) |
6
|
Yes |
pemphigoid (Q881811) |
6
|
Yes |
malformation of the neurenteric canal, spinal cord and column (Q55786799) |
6
|
Yes |
craniofacial abnormality (Q5182137) |
6
|
Yes |
inherited renal tumor (Q55785849) |
6
|
Yes |
idiopathic interstitial pneumonia (Q1790424) |
6
|
Yes |
microcephalic primordial dwarfism (Q55787615) |
6
|
Yes |
non-syndromic urogenital tract malformation of male (Q55785825) |
6
|
Yes |
cardiomyopathy (Q847583) |
6
|
Yes |
circadian rhythm sleep disorder (Q2712607) |
6
|
Yes |
rare genetic subcutaneous tissue disorder (Q55785836) |
6
|
Yes |
hematopoietic system disease (Q1963588) |
6
|
Yes |
autoimmune disease of the nervous system (Q18556300) |
6
|
Yes |
inherited skin tumor (Q55785837) |
6
|
Yes |
epilepsy (Q41571) |
6
|
Yes |
mixed dermis disorder (Q55788599) |
6
|
Yes |
encephalitis (Q199615) |
6
|
Yes |
functional neutrophil defect (Q55785861) |
6
|
Yes |
disorder of O-mannosylglycan synthesis (Q55787322) |
6
|
Yes |
retinal vascular disease (Q12195125) |
6
|
Yes |
intrinsic cardiomyopathy (Q18553611) |
6
|
Yes |
sexually transmitted infection (Q12198) |
6
|
Yes |
agenesis (Q392604) |
6
|
Yes |
juvenile rheumatoid arthritis (Q861224) |
6
|
Yes |
pituitary gland disease (Q7199538) |
6
|
Yes |
autoimmune disease of endocrine system (Q18553586) |
6
|
Yes |
nose disease (Q10267828) |
6
|
Yes |
non-paraneoplastic limbic encephalitis (Q55785579) |
6
|
Yes |
urea cycle disorder (Q1585743) |
6
|
Yes |
bacterial pneumonia (Q3776920) |
6
|
Yes |
genetic endocrine growth disease (Q55785526) |
6
|
Yes |
bent bone dysplasia (Q55788810) |
6
|
Yes |
mitochondrial disease with dilated cardiomyopathy (Q55786150) |
6
|
Yes |
early-onset partial cataract (Q56014425) |
6
|
Yes |
HFE hereditary haemochromatosis (Q3144934) |
6
|
Yes |
anorectal anomalies (Q4770166) |
6
|
Yes |
polymicrogyria (Q2991265) |
6
|
Yes |
partial deletion of the long arm of chromosome 20 (Q55786627) |
6
|
Yes |
lupus erythematosus (Q188297) |
6
|
Yes |
abnormal origin or aberrant course of coronary artery (Q55788901) |
6
|
Yes |
pelvic organ prolapse (Q166102) |
6
|
Yes |
syndrome with a symptomatic strabismus (Q55789247) |
6
|
Yes |
predominantly large-vessel vasculitis (Q55785504) |
6
|
Yes |
rare head and neck malformation (Q55785495) |
6
|
Yes |
bone inflammation disease (Q1178507) |
6
|
Yes |
inherited prion disease (Q16662567) |
6
|
Yes |
refractive error (Q470427) |
6
|
Yes |
multiple endocrine neoplasia (Q1553018) |
6
|
Yes |
reduction defects of upper limb (Q6000089) |
6
|
Yes |
Silver-Russell syndrome (Q2142496) |
6
|
Yes |
keratoconjunctivitis (Q1623006) |
6
|
Yes |
lung cancer (Q47912) |
6
|
Yes |
vision disorder (Q767669) |
6
|
Yes |
T-cell lymphoma (Q7667896) |
6
|
Yes |
bilineal acute myeloid leukemia (Q55783213) |
6
|
Yes |
Herpesviridae infectious disease (Q18975237) |
6
|
Yes |
congenital anomaly of superior vena cava (Q55788903) |
6
|
Yes |
genetic biliary tract disease (Q55785521) |
6
|
Yes |
familial hyperlipidemia (Q18554145) |
6
|
Yes |
allergy (Q42982) |
6
|
Yes |
viral hemorrhagic fever (Q162272) |
6
|
Yes |
primary hypomagnesemia (Q32136684) |
6
|
Yes |
bowel obstruction (Q16244733) |
6
|
Yes |
male reproductive organ cancer (Q18556093) |
6
|
Yes |
autonomic nervous system disease (Q18554088) |
6
|
Yes |
rare eye disease (Q55789046) |
6
|
Yes |
scleral disease (Q18554064) |
6
|
Yes |
genetic macular dystrophy (Q55789238) |
6
|
Yes |
partial deletion of the long arm of chromosome 14 (Q55786614) |
6
|
Yes |
hyperaldosteronism (Q1640860) |
6
|
Yes |
hypothyroidism, congenital, nongoitrous (Q55762558) |
6
|
Yes |
coloboma (Q1462309) |
6
|
Yes |
polyglandular dysfunction (Q55010679) |
6
|
Yes |
congenital disorder of glycosylation with cardiac malformation as a major feature (Q55787895) |
6
|
Yes |
peripheral vascular disease (Q26695607) |
6
|
Yes |
lysosomal disease with hypertrophic cardiomyopathy (Q55786143) |
6
|
Yes |
phakomatosis (Q748376) |
6
|
Yes |
cleft palate (Q3889390) |
6
|
Yes |
congenital disorder of glycosylation with epilepsy as a major feature (Q55787880) |
6
|
Yes |
familial adenomatous polyposis (Q1369011) |
6
|
Yes |
metabolic disease with corneal opacity (Q55789274) |
6
|
Yes |
gallbladder disease (Q5518905) |
6
|
Yes |
distomatosis (Q3030745) |
6
|
Yes |
tremor (Q223907) |
6
|
Yes |
metabolic disease with pigmentary retinitis (Q55789276) |
6
|
Yes |
oropharynx cancer (Q2031424) |
6
|
Yes |
hereditary sensory and autonomic neuropathy (Q3702898) |
6
|
Yes |
mitochondrial oxidative phosphorylation disorder with no known mechanism (Q55786454) |
6
|
Yes |
facial nerve disease (Q18554894) |
6
|
Yes |
primary osteolysis (Q55788819) |
6
|
Yes |
genetic motor neuron disease (Q55790454) |
6
|
Yes |
autosomal dominant intermediate Charcot-Marie-Tooth disease (Q3281252) |
6
|
Yes |
immunodeficiency due to a complement regulatory deficiency (Q55788287) |
6
|
Yes |
isolated craniosynostosis (Q56013709) |
6
|
Yes |
Charcot-Marie-Tooth disease type 1 (Q3281253) |
6
|
Yes |
non-syndromic uterovaginal malformation (Q55785748) |
6
|
Yes |
retinal degeneration (Q3043268) |
6
|
Yes |
fallopian tube disease (Q18554947) |
6
|
Yes |
hypopituitarism (Q922411) |
6
|
Yes |
hyperlipidemia (Q1079120) |
6
|
Yes |
synostosis (Q2141048) |
6
|
Yes |
mood disorder (Q188638) |
6
|
Yes |
breast disease (Q4959796) |
6
|
Yes |
nemaline myopathy (Q1507379) |
6
|
Yes |
autosomal recessive spastic ataxia (Q55346010) |
6
|
Yes |
non-syndromic visceral malformation (Q55785330) |
6
|
Yes |
inflammatory and autoimmune disease with epilepsy (Q55785633) |
6
|
Yes |
filariasis (Q815753) |
6
|
Yes |
autosomal dominant hereditary demyelinating motor and sensory neuropathy (Q55785419) |
6
|
Yes |
hereditary poikiloderma (Q55786182) |
5
|
Yes |
osteosclerosis (Q1233526) |
5
|
Yes |
cerebrum cancer (Q18556019) |
5
|
Yes |
Localized lichen myxedematosus (Q6664633) |
5
|
Yes |
aplastic anemia (Q846316) |
5
|
Yes |
pyrimidine metabolic disorder (Q18553504) |
5
|
Yes |
rare disease with thoracic aortic aneurysm and aortic dissection (Q55786976) |
5
|
Yes |
streptococcal infection (Q5849703) |
5
|
Yes |
syndrome with a Dandy-Walker malformation as major feature (Q55786836) |
5
|
Yes |
poisoning by drugs (Q387175) |
5
|
Yes |
metabolic neurotransmission anomaly with epilepsy (Q55786199) |
5
|
Yes |
growth hormone insensitivity syndrome (Q47455810) |
5
|
Yes |
spondyloepiphyseal dysplasia with congenital joint dislocations (Q18553493) |
5
|
Yes |
peripheral retinal degeneration (Q18554249) |
5
|
Yes |
rectal disease (Q18554389) |
5
|
Yes |
disorder of lysine and hydroxylysine metabolism (Q55787002) |
5
|
Yes |
genetic non-syndromic obesity (Q55789104) |
5
|
Yes |
amino acid or protein metabolism disease with epilepsy (Q55786194) |
5
|
Yes |
hematologic cancer (Q18975047) |
5
|
Yes |
undifferentiated carcinoma (Q3658394) |
5
|
Yes |
tetrasomy (Q906664) |
5
|
Yes |
rare disease with odontological manifestation (Q55789054) |
5
|
Yes |
perinatal disease (Q18968218) |
5
|
Yes |
T-B- severe combined immunodeficiency (Q55787467) |
5
|
Yes |
central nervous system viral disease (Q5062121) |
5
|
Yes |
myeloid neoplasm (Q18553734) |
5
|
Yes |
sucrose intolerance (Q498826) |
5
|
Yes |
polydactyly (Q371520) |
5
|
Yes |
alpha granule disease (Q55789132) |
5
|
Yes |
waterborne disease (Q2006636) |
5
|
Yes |
coccidiosis (Q487837) |
5
|
Yes |
bile duct disease (Q18556206) |
5
|
Yes |
nephrotic syndrome (Q504790) |
5
|
Yes |
genetic vascular disease (Q55786280) |
5
|
Yes |
parathyroid gland disease (Q7136145) |
5
|
Yes |
osteonecrosis (Q503629) |
5
|
Yes |
lymphoblastic leukemia (Q18553852) |
5
|
Yes |
eyelid degenerative disease (Q18553781) |
5
|
Yes |
patellar dysostosis (Q55788824) |
5
|
Yes |
gonococcal infectious diseases (Q26695958) |
5
|
Yes |
oculomotor apraxia (Q2074059) |
5
|
Yes |
filamin-related bone disorder (Q55788802) |
5
|
Yes |
postinfectious encephalitis (Q11830340) |
5
|
Yes |
thyroiditis (Q11835644) |
5
|
Yes |
demyelinating disease (Q1186703) |
5
|
Yes |
short rib dysplasia (Q55788803) |
5
|
Yes |
autoimmune disease of peripheral nervous system (Q18553610) |
5
|
Yes |
porphyria (Q271759) |
5
|
Yes |
pseudohypoaldosteronism type 2 (Q56014268) |
5
|
Yes |
autoimmune disease of cardiovascular system (Q4826340) |
5
|
Yes |
sweat gland disease (Q18554617) |
5
|
Yes |
systemic inflammatory disease associated with an acquired peripheral neuropathy (Q55785994) |
5
|
Yes |
beta thalassemia (Q3616632) |
5
|
Yes |
peripheral neuropathy associated with monoclonal gammopathy (Q55785996) |
5
|
Yes |
malaria (Q12156) |
5
|
Yes |
Zellweger spectrum disorder (Q51250082) |
5
|
Yes |
chronic leukemia (Q5113979) |
5
|
Yes |
neurogenic arthrogryposis multiplex congenita (Q708165) |
5
|
Yes |
amyotrophic lateral sclerosis (Q206901) |
5
|
Yes |
inherited digestive tract tumor (Q55786847) |
5
|
Yes |
stomach carcinoma (Q3658392) |
5
|
Yes |
systemic diseases with anterior uveitis (Q55786944) |
5
|
Yes |
immune deficiency with skin involvement (Q55788607) |
5
|
Yes |
chronic inflammatory demyelinating polyradiculoneuropathy (Q1088030) |
5
|
Yes |
hereditary stomatocytosis (Q3973817) |
5
|
Yes |
chromosome 10 anomaly (Q56742460) |
5
|
Yes |
eye symptom (Q102186610) |
5
|
Yes |
sebaceous gland disease (Q18558062) |
5
|
Yes |
catecholaminergic polymorphic ventricular tachycardia (Q1649897) |
5
|
Yes |
Giant platelet disorder (Q5558486) |
5
|
Yes |
collagen disease (Q1446169) |
5
|
Yes |
hypotrichosis (Q1641483) |
5
|
Yes |
degeneration of macula and posterior pole (Q16678480) |
5
|
Yes |
microcephaly (Q431643) |
5
|
Yes |
rare genetic urogenital disease (Q55785523) |
5
|
Yes |
genetic female infertility (Q55788067) |
5
|
Yes |
pulmonary hypertension (Q1128595) |
5
|
Yes |
rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin (Q55788062) |
5
|
Yes |
Crohn's disease (Q1472) |
5
|
Yes |
female infertility due to an implantation defect (Q55788056) |
5
|
Yes |
Joubert syndrome and related disorders (Q55345933) |
5
|
Yes |
acquired polycythemia (Q18555212) |
5
|
Yes |
hypolipoproteinemia (Q5959735) |
5
|
Yes |
Inherited giant platelet disorder (Q5989203) |
5
|
Yes |
mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (Q55787305) |
5
|
Yes |
laryngeal disease (Q18557753) |
5
|
Yes |
skin cancer (Q192102) |
5
|
Yes |
fibromatosis (Q1410851) |
5
|
Yes |
congenital disorder of glycosylation-related bone disorder (Q55787913) |
5
|
Yes |
acyl-CoA dehydrogenase deficiency (Q55787302) |
5
|
Yes |
sex differentiation disease (Q18554938) |
5
|
Yes |
Niemann-Pick disease (Q1419931) |
5
|
Yes |
genetic pancreatic disease (Q55785598) |
5
|
Yes |
hemic system symptom (Q102186671) |
5
|
Yes |
autosomal recessive congenital cerebellar ataxia (Q55346091) |
5
|
Yes |
conjunctivitis (Q167844) |
5
|
Yes |
focal dystonia (Q1428695) |
5
|
Yes |
otitis media (Q223254) |
5
|
Yes |
congenital enteropathy involving intestinal mucosa development (Q55785309) |
5
|
Yes |
fasciitis (Q1870975) |
5
|
Yes |
median facial cleft (Q55785459) |
5
|
Yes |
peritonitis (Q223102) |
5
|
Yes |
dysostosis with combined reduction defects of upper and lower limbs (Q55787047) |
5
|
Yes |
Megaureter (Q1547111) |
5
|
Yes |
nasal cavity disease (Q18555020) |
5
|
Yes |
acquired pituitary hormone deficiency (Q55788906) |
5
|
Yes |
congenital intestinal disease due to an enzymatic defect (Q55785308) |
5
|
Yes |
primordial dwarfism (Q2289761) |
5
|
Yes |
congenital anomaly of the inferior vena cava (Q55788904) |
5
|
Yes |
syndromic respiratory or mediastinal malformation (Q55785340) |
5
|
Yes |
lymph node disease (Q18558262) |
5
|
Yes |
syndrome with limb malformations as a major feature (Q55785343) |
5
|
Yes |
pseudohermaphroditism (Q2273662) |
5
|
Yes |
secondary neonatal autoimmune disease (Q55787988) |
5
|
Yes |
cellulitis (Q876887) |
5
|
Yes |
cleft lip and cleft palate (Q222634) |
5
|
Yes |
oblique facial cleft (Q55785461) |
5
|
Yes |
perinatal infectious disease (Q9386039) |
5
|
Yes |
germ cell cancer (Q18555254) |
5
|
Yes |
brain inflammatory disease (Q55785279) |
5
|
Yes |
disorder of medulla oblongata (Q55785277) |
5
|
Yes |
hereditary optic neuropathy (Q55789244) |
5
|
Yes |
arteriovenous malformation (Q1584110) |
5
|
Yes |
lymphatic system disease (Q6708237) |
5
|
Yes |
sphingolipidosis with epilepsy (Q55787921) |
5
|
Yes |
ascending cholangitis (Q603644) |
5
|
Yes |
hospital-acquired infection (Q215509) |
5
|
Yes |
respiratory failure (Q767485) |
5
|
Yes |
Pelizaeus-Merzbacher disease (Q1876206) |
5
|
Yes |
T cell deficiency (Q7672692) |
5
|
Yes |
Hodgkin lymphoma (Q209369) |
5
|
Yes |
congenital hypothyroidism (Q531012) |
5
|
Yes |
ear disease (Q5325633) |
5
|
Yes |
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (Q55787324) |
5
|
Yes |
congenital anemia (Q18967566) |
5
|
Yes |
psychosexual disorder (Q7256482) |
5
|
Yes |
nerve compression syndrome (Q1978084) |
5
|
Yes |
syndromic palpebral coloboma (Q55789161) |
5
|
Yes |
rubella virus infectious disease (Q19000421) |
5
|
Yes |
cerebral malformation (Q55785902) |
5
|
Yes |
human disease (Q104477483) |
5
|
Yes |
Leigh disease (Q1815019) |
5
|
Yes |
disorder of O-xylosylglycan synthesis (Q55787318) |
5
|
Yes |
disorder of protein O-glycosylation (Q55787317) |
5
|
Yes |
facial cleft (Q5428558) |
5
|
Yes |
cestodosis (Q4505372) |
5
|
Yes |
Fatty-acid metabolism disorder (Q5437988) |
5
|
Yes |
lymphoma (Q208414) |
5
|
Yes |
other genetic epidermal disease (Q55788581) |
5
|
Yes |
infancy electroclinical syndrome (Q18553413) |
5
|
Yes |
foodborne illness (Q272002) |
5
|
Yes |
Localized lipodystrophy (Q6664635) |
5
|
Yes |
periodontitis (Q520127) |
5
|
Yes |
Beckwith-Wiedemann syndrome (Q521863) |
5
|
Yes |
congenital cystic adenomatoid malformation (Q246040) |
5
|
Yes |
rare eye disease due to a differentiation anomaly (Q55789154) |
5
|
Yes |
neuronal migration disorder (Q17146964) |
5
|
Yes |
rare parkinsonian syndrome due to genetic neurodegenerative disease (Q55787260) |
5
|
Yes |
miscellaneous movement disorder due to genetic neurodegenerative disease (Q55787261) |
5
|
Yes |
sterol biosynthesis disorder (Q55788560) |
5
|
Yes |
candidiasis (Q273510) |
5
|
Yes |
disorder of sex development (Q5282521) |
5
|
Yes |
Gaucher's disease (Q861645) |
5
|
Yes |
anomaly of puberty or/and menstrual cycle of genetic origin (Q55785912) |
5
|
Yes |
TRPV4-related bone disorder (Q55787813) |
5
|
Yes |
syndrome with hypoparathyroidism (Q55785800) |
5
|
Yes |
rare maxillo-facial surgical disease (Q55788454) |
5
|
Yes |
trigonocephaly (Q1760294) |
5
|
Yes |
isolated constitutional thrombocytopenia (Q55788347) |
5
|
Yes |
syndromic constitutional thrombocytopenia (Q55788346) |
5
|
Yes |
Pierre Robin syndrome (Q1756040) |
5
|
Yes |
osteopetrosis (Q1755568) |
5
|
Yes |
glossopharyngeal nerve disease (Q18555926) |
5
|
Yes |
psoriasis (Q179945) |
5
|
Yes |
encephalocele (Q1346023) |
5
|
Yes |
syphilis (Q41083) |
5
|
Yes |
type 1 interferonopathy (Q55788332) |
5
|
Yes |
peroxisomal disease (Q3281322) |
5
|
Yes |
rare disease with malignant hyperthermia (Q55788310) |
5
|
Yes |
fetal anticonvulsant syndrome (Q55787831) |
5
|
Yes |
mucolipidosis (Q1952032) |
5
|
Yes |
rare genetic disease (Q55789522) |
5
|
Yes |
ocular cancer (Q2420648) |
5
|
Yes |
type IV hypersensitivity (Q7860879) |
5
|
Yes |
dental pulp disease (Q3368715) |
5
|
Yes |
Y chromosome number anomaly (Q55786719) |
5
|
Yes |
paraphilia (Q178059) |
5
|
Yes |
partial monosomy of the short arm of chromosome X (Q55786718) |
5
|
Yes |
calcinosis (Q239027) |
5
|
Yes |
color blindness (Q133696) |
5
|
Yes |
X chromosome number anomaly with male phenotype (Q55786715) |
5
|
Yes |
congestive heart failure (Q19000661) |
5
|
Yes |
pneumothorax (Q203601) |
4
|
Yes |
bilirubin metabolic disorder (Q390475) |
4
|
Yes |
methylmalonic acidemia with homocystinuria (Q56013898) |
4
|
Yes |
maple syrup urine disease (Q402575) |
4
|
Yes |
renal agenesis (Q669435) |
4
|
Yes |
cardiovascular disease (Q389735) |
4
|
Yes |
uterine malformation (Q2034363) |
4
|
Yes |
chronic progressive external ophthalmoplegia (Q2026857) |
4
|
Yes |
hyperimmunoglobulin syndrome (Q18555244) |
4
|
Yes |
acute myeloid leukemia with recurrent genetic anomaly (Q56014396) |
4
|
Yes |
pervasive developmental disorder (Q6691991) |
4
|
Yes |
Turner syndrome (Q202849) |
4
|
Yes |
intracranial hypertension (Q18558125) |
4
|
Yes |
frontotemporal dementia (Q18592) |
4
|
Yes |
Stickler syndrome (Q2288646) |
4
|
Yes |
ectodermal malformation syndrome associated with ocular features (Q55789272) |
4
|
Yes |
Tay-Sachs disease (Q560337) |
4
|
Yes |
hematological disease of fetus and newborn (Q19001385) |
4
|
Yes |
nervous system anomaly with eye involvement (Q55789255) |
4
|
Yes |
congenital vitreoretinal dysplasia (Q55789243) |
4
|
Yes |
nasopharyngeal disease (Q18558167) |
4
|
Yes |
benign mammary dysplasia (Q18558146) |
4
|
Yes |
colobomatous and areolar dystrophy (Q55789239) |
4
|
Yes |
aortic malformation (Q55789280) |
4
|
Yes |
glomerulonephritis (Q605006) |
4
|
Yes |
lip disease (Q18558095) |
4
|
Yes |
salivary gland cancer (Q18558026) |
4
|
Yes |
isolated growth hormone deficiency (Q32136616) |
4
|
Yes |
dermatophytosis (Q1909343) |
4
|
Yes |
young-onset Parkinson disease (Q32136833) |
4
|
Yes |
retinal artery occlusion (Q18557950) |
4
|
Yes |
congenital generalized lipodystrophy (Q3242224) |
4
|
Yes |
kidney cancer (Q3242950) |
4
|
Yes |
cryptophthalmos (Q590324) |
4
|
Yes |
urological symptom (Q2565950) |
4
|
Yes |
ischemic bone disease (Q26695332) |
4
|
Yes |
tumor of hematopoietic and lymphoid tissues (Q2509220) |
4
|
Yes |
adenoma (Q272741) |
4
|
Yes |
hemangioendothelioma (Q5710984) |
4
|
Yes |
Bunyaviridae infectious disease (Q18967528) |
4
|
Yes |
bronchospasm (Q279330) |
4
|
Yes |
neoplasm of body of uterus (Q19000469) |
4
|
Yes |
infectious myositis (Q18967319) |
4
|
Yes |
salmonellosis (Q326648) |
4
|
Yes |
alpha thalassemia (Q288714) |
4
|
Yes |
developmental dislocation of joint (Q18966410) |
4
|
Yes |
stomach cancer (Q189588) |
4
|
Yes |
Noonan syndrome and Noonan-related syndrome (Q55789288) |
4
|
Yes |
horse disease (Q29568408) |
4
|
Yes |
superficial mycosis (Q18928094) |
4
|
Yes |
colorectal cancer (Q188874) |
4
|
Yes |
brain tumor (Q233309) |
4
|
Yes |
autosomal dominant optic atrophy (Q29982071) |
4
|
Yes |
bacterial meningitis (Q3678510) |
4
|
Yes |
immunodeficiency (Q641307) |
4
|
Yes |
syndromic ankyloblepharon (Q55789160) |
4
|
Yes |
bursitis (Q645363) |
4
|
Yes |
lipid storage disease (Q3540902) |
4
|
Yes |
small intestine carcinoma (Q18556538) |
4
|
Yes |
syndromic aniridia (Q55789153) |
4
|
Yes |
Laryngeal cleft (Q6491956) |
4
|
Yes |
asthma (Q35869) |
4
|
Yes |
Q18556397 |
4
|
Yes |
myotonic disease (Q18556352) |
4
|
Yes |
eyelids malposition disorder (Q55789162) |
4
|
Yes |
leprosy (Q36956) |
4
|
Yes |
hereditary ataxia (Q3731293) |
4
|
Yes |
urinary system cancer (Q18556141) |
4
|
Yes |
eating disorder (Q373822) |
4
|
Yes |
cranial nerve palsy (Q18556080) |
4
|
Yes |
male infertility due to gonadal dysgenesis (Q55789112) |
4
|
Yes |
adolescent-onset epilepsy syndrome (Q55789103) |
4
|
Yes |
oculocutaneous albinism (Q2017741) |
4
|
Yes |
maculopathy (Q3842207) |
4
|
Yes |
congenital physical abnormality (Q3281904) |
4
|
Yes |
lymphadenitis (Q3269466) |
4
|
Yes |
pyoderma (Q2119633) |
4
|
Yes |
corneal endothelial dystrophy (Q21154083) |
4
|
Yes |
vitamin deficiency (Q194435) |
4
|
Yes |
vitamin B12 deficiency anemia (Q32786207) |
4
|
Yes |
epithelial-stromal TGFBI dystrophy (Q21154081) |
4
|
Yes |
muscle tissue disease (Q18557307) |
4
|
Yes |
inborn errors of purine–pyrimidine metabolism (Q3281375) |
4
|
Yes |
otopalatodigital syndrome spectrum disorder (Q3281416) |
4
|
Yes |
Guillain–Barré syndrome (Q205214) |
4
|
Yes |
aortic valve disease (Q18557169) |
4
|
Yes |
posterior corneal dystrophy (Q55789211) |
4
|
Yes |
Vestibulocerebellar syndrome (Q622925) |
4
|
Yes |
histiocytic and dendritic cell cancer (Q18556903) |
4
|
Yes |
substance dependence (Q3378593) |
4
|
Yes |
gestational trophoblastic disease (Q3433884) |
4
|
Yes |
syndromic epicanthus (Q55789170) |
4
|
Yes |
secondary ectropion (Q55789166) |
4
|
Yes |
functioning pituitary adenoma (Q18556775) |
4
|
Yes |
peeling skin syndrome (Q17120550) |
4
|
Yes |
inherited nervous system cancer-predisposing syndrome (Q55786407) |
4
|
Yes |
pure hereditary spastic paraplegia (Q55345930) |
4
|
Yes |
spotted fever (Q9274700) |
4
|
Yes |
chronic gastritis (Q16958168) |
4
|
Too many results. 3501 items skipped
|