Ectodermal dysplasia 15, hypohidrotic/hair type

Preferred Label : Ectodermal dysplasia 15, hypohidrotic/hair type;

Symbol : ECTD15;

CISMeF acronym : ECTD15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cystatin-6 gene (CST6, 601891.0001);

Prefixed ID : #618535;

Details

Origin ID

618535;

UMLS CUI

C5193145;

Currated CISMeF NLP mapping
- ectodermal dysplasia 15 [DO Concept]
DO Cross reference
- ectodermal dysplasia 15 [DO Concept]
Genes related to phenotype
- Cystatin 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharitis [HPO term]
- Dry skin [HPO term]
- Hypohidrosis [HPO term]
- Photophobia [HPO term]
- Slow-growing hair [HPO term]
- Sparse body hair [HPO term]
- Sparse eyelashes [HPO term]
ORDO concept(s)
- Autosomal recessive hypohidrotic ectodermal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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