Orofacial cleft 11

Preferred Label : Orofacial cleft 11;

Symbol : OFC11;

CISMeF acronym : CHCL; OFC11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleft lip with or without cleft palate, nonsyndromic, 11;

Included titles and symbols : Cleft lip, congenital healed; Congenital healed cleft lip; CHCL;

Description : Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995).;

Inheritance : ? Familial predisposition;

Prefixed ID : #600625;

Details

Origin ID

600625;

UMLS CUI

C2677434;

Automatic exact mappings (from CISMeF team)
- cleft lip, congenital healed [MeSH Supplementary Concept]
- cleft lip, congenital healed [MeSH concept]
- orofacial cleft 11 [DO Concept]
Currated CISMeF NLP mapping
- orofacial cleft 11 [MeSH concept]
- orofacial cleft 11 [MeSH Supplementary Concept]
DO Cross reference
- orofacial cleft 11 [DO Concept]
False automatic mappings
- BMP4 wt Allele [NCIt concept]
Genes related to phenotype
- Bone morphogenetic protein 4 [OMIM gene]
HPO term(s)
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Polygenic inheritance [HPO term]
ORDO concept(s)
- Cleft lip/palate [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- orofacial cleft 11 [MeSH Supplementary Concept]
- orofacial cleft 11 [MeSH concept]
Validated automatic mappings to NTBT
- Cleft lip with or without cleft palate [ORDO Disease]

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