Orofacial cleft 5

Preferred Label : Orofacial cleft 5;

Symbol : OFC5;

CISMeF acronym : OFC5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleft lip with or without cleft palate, nonsyndromic, 5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MSH homeobox 1 gene (MSX1, 142983.0004);

Prefixed ID : #608874;

Détails

Origin ID

608874;

UMLS CUI

C1837210;

Automatic exact mappings (from CISMeF team)
- msh homeobox 1 [ORDO Gene]
- msh homeobox 1 [HGNC gene]
- orofacial cleft 5 [DO Concept]
Currated CISMeF NLP mapping
- orofacial cleft 5 [MeSH concept]
- orofacial cleft 5 [MeSH Supplementary Concept]
DO Cross reference
- orofacial cleft 5 [DO Concept]
Genes related to phenotype
- Msh homeobox 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
ORDO concept(s)
- Cleft lip and alveolus [ORDO Disease]
- Cleft lip/palate [ORDO Disease]
- Isolated cleft lip [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- orofacial cleft 5 [MeSH Supplementary Concept]
- orofacial cleft 5 [MeSH concept]
Validated automatic mappings to NTBT
- Cleft lip with or without cleft palate [ORDO Disease]

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

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