Ectodermal dysplasia-syndactyly syndrome 1

Preferred Label : Ectodermal dysplasia-syndactyly syndrome 1;

Symbol : EDSS1;

CISMeF acronym : EDSS1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the poliovirus receptor-like 4 gene (PVRL4, 609607.0001);

Prefixed ID : #613573;

Details

Origin ID

613573;

UMLS CUI

C3150807;

Genes related to phenotype
- Nectin cell adhesion molecule 4 [OMIM gene]
HPO term(s)
- 2-3 toe cutaneous syndactyly [HPO term]
- Absent facial hair [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coarse hair [HPO term]
- Conical tooth [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Ectodermal dysplasia [HPO term]
- Enamel hypoplasia [HPO term]
- Heat intolerance [HPO term]
- Hypoplastic toenails [HPO term]
- Palmar hyperkeratosis [HPO term]
- Patchy alopecia [HPO term]
- Pili torti [HPO term]
- Small nail [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Ectodermal dysplasia-syndactyly syndrome [ORDO Disease]
See also inter- (CISMeF)
- NECTIN4 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Ectodermal dysplasia-syndactyly syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients