Blepharocheilodontic syndrome 2

Preferred Label : Blepharocheilodontic syndrome 2;

Symbol : BCDS2;

CISMeF acronym : BCDS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the delta-1 catenin gene (CTNND1, 601045.0001);

Prefixed ID : #617681;

Détails

Origin ID

617681;

UMLS CUI

C4540127;

Automatic exact mappings (from CISMeF team)
- blepharocheilodontic syndrome 2 [DO Concept]
DO Cross reference
- blepharocheilodontic syndrome 2 [DO Concept]
Genes related to phenotype
- Catenin, delta-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Conical tooth [HPO term]
- Cutaneous syndactyly [HPO term]
- Distichiasis [HPO term]
- Ectropion of lower eyelids [HPO term]
- Euryblepharon [HPO term]
- Facial asymmetry [HPO term]
- Flat face [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Tooth agenesis [HPO term]
ORDO concept(s)
- Blepharo-cheilo-odontic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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