Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies

Preferred Label : Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies;

Symbol : EDFAOB;

CISMeF acronym : EDFAOB;

Type : Phenotype, molecular basis known;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by mutation in the Ras homolog gene family, member-A gene (RHOA, 165390.0001);

Prefixed ID : #618727;

Details

Origin ID

618727;

UMLS CUI

C5231477;

Genes related to phenotype
- Ras homolog gene family, member a [OMIM gene]
HPO term(s)
- 3-4 toe syndactyly [HPO term]
- Astigmatism [HPO term]
- Brachydactyly [HPO term]
- Broad hallux [HPO term]
- Cataract [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Conical tooth [HPO term]
- Dental malocclusion [HPO term]
- Ectopia pupillae [HPO term]
- Enamel hypoplasia [HPO term]
- Facial asymmetry [HPO term]
- Glaucoma [HPO term]
- Hemifacial hypoplasia [HPO term]
- Malar flattening [HPO term]
- Microdontia [HPO term]
- Microphthalmia [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Oligodontia [HPO term]
- Optic atrophy [HPO term]
- Persistence of primary teeth [HPO term]
- Reduced visual acuity [HPO term]
- Sandal gap [HPO term]
- Scarring alopecia of scalp [HPO term]
- Somatic mosaicism [HPO term]
- Strabismus [HPO term]
- Thick nasal alae [HPO term]
- Unilateral narrow palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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