Blepharocheilodontic syndrome 1

Preferred Label : Blepharocheilodontic syndrome 1;

Symbol : BCDS1;

CISMeF acronym : BCDS; BCDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bcd syndrome; Blepharocheilodontic syndrome; Lagophthalmia with bilateral cleft lip and palate; Ectropion, inferior, with cleft lip and/or palate; BCDS; Elschnig syndrome; Clefting, ectropion, and conical teeth;

Description : The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cadherin 1 gene (CDH1, 192090.0024);

Prefixed ID : #119580;

Détails

Origin ID

119580;

UMLS CUI

C4551988;

Automatic exact mappings (from CISMeF team)
- BRCD1 Gene [NCIt concept]
- Blepharocheilodontic syndrome [ICD-11 More detail]
- CDH1 wt Allele [NCIt concept]
- blepharocheilodontic syndrome [DO Concept]
- blepharocheilodontic syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Blepharo-cheilo-dontic syndrome [MeSH concept]
- Blepharo-cheilo-odontic syndrome [PASCAL descriptor]
- Blepharo-cheilo-odontic syndrome [ORDO Disease]
- Blepharocheilodontic syndrome (disorder) [SNOMED CT concept]
- blepharo-cheilo-dontic syndrome [MeSH Supplementary Concept]
DO Cross reference
- blepharocheilodontic syndrome 1 [DO Concept]
Genes related to phenotype
- Cadherin 1 [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choanal atresia [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Conical tooth [HPO term]
- Cutaneous syndactyly [HPO term]
- Distichiasis [HPO term]
- Ectropion of lower eyelids [HPO term]
- Flat face [HPO term]
- High anterior hairline [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Neural tube defect [HPO term]
- Small nail [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Blepharo-cheilo-odontic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharo-cheilo-dontic syndrome [MeSH concept]
- Blepharo-cheilo-odontic syndrome [ORDO Disease]
- Blepharo-cheilo-odontic syndrome [PASCAL descriptor]
- Blepharocheilodontic syndrome (disorder) [SNOMED CT concept]
- blepharo-cheilo-dontic syndrome [MeSH Supplementary Concept]

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

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