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Total: 4312 results


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Rank
(Similarity)		 Gene
Matched Phenotype  Disease Name  Modes of Inheritance

60
(84.0%)

WHCR

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM)

Autosomal dominant inheritance Sporadic

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

60
(84.0%)

CTBP1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (OMIM)

Autosomal dominant inheritance Sporadic

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

60
(84.0%)

LETM1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) Wolf-Hirschhorn syndrome (ORDO)

Autosomal dominant inheritance Sporadic

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

60
(84.0%)

NSD2

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) Wolf-Hirschhorn syndrome (ORDO)

Autosomal dominant inheritance Sporadic

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

60
(84.0%)

CPLX1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM) developmental and epileptic encephalopathy, 63 (OMIM) Familial infantile myoclonic epilepsy (ORDO)

Autosomal dominant inheritance Sporadic Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

66
(83.9%)

FLI1

Eyelid coloboma Missing ribs Short toe Smooth philtrum

bleeding disorder, platelet-type, 21 (OMIM) Jacobsen syndrome (ORDO) Peripheral primitive neuroectodermal tumor (ORDO) Paris-Trousseau thrombocytopenia (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Sporadic

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

67
(83.9%)

AFF4

Downslanted palpebral fissures Hypoplasia of proximal radius Micrognathia Small hand Thin upper lip vermilion

cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome (OMIM) Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome (ORDO)

Autosomal dominant inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

68
(83.9%)

TWIST2

Cryptophthalmos Micrognathia Short metacarpal Short upper lip

ablepharon macrostomia syndrome (OMIM) Barber-Say syndrome (OMIM) focal facial dermal dysplasia type III (OMIM) Barber-Say syndrome (ORDO) Focal facial dermal dysplasia type III (ORDO) Ablepharon macrostomia syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

69
(83.9%)

FZD2

Epicanthus Median cleft lip and palate Micrognathia Short 1st metacarpal Short humerus

autosomal dominant omodysplasia (OMIM) Autosomal dominant Robinow syndrome (ORDO) Autosomal dominant omodysplasia (ORDO)

Autosomal dominant inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

69
(83.9%)

TCTN3

Epicanthus Median cleft lip Micrognathia Short finger Short tibia

orofaciodigital syndrome IV (OMIM) Joubert syndrome 18 (OMIM) Orofaciodigital syndrome type 4 (ORDO) Orofaciodigital syndrome type 6 (ORDO)

Autosomal recessive inheritance X-linked recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb