Ectodermal dysplasia/short stature syndrome

Preferred Label : Ectodermal dysplasia/short stature syndrome;

Symbol : ECTDS;

CISMeF acronym : ECTDS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the grainyhead-like 2 gene (GRHL2, 608576.0003);

Prefixed ID : #616029;

Details

Origin ID

616029;

UMLS CUI

C4014987;

Automatic exact mappings (from CISMeF team)
- GRHL2 wt Allele [NCIt concept]
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Grainyhead-like 2 [OMIM gene]
HPO term(s)
- Anonychia [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dysphagia [HPO term]
- Enamel hypoplasia [HPO term]
- Epidermal acanthosis [HPO term]
- Hyperkeratosis [HPO term]
- Hypodontia [HPO term]
- Nail dystrophy [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder) [SNOMED CT concept]

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