Orofacial cleft 10

Preferred Label : Orofacial cleft 10;

Symbol : OFC10;

CISMeF acronym : OFC10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleft lip with or without cleft palate, nonsyndromic, 10;

Inheritance : Isolated cases;

Molecular basis : Caused by disruption of the small ubiquitin-like modifier 1 gene (SUMO1, 601912.0001);

Laboratory abnormalities : Karyotype 46,XX,t(2,8)(q33.1,q24.3);

Prefixed ID : #613705;

Details

Origin ID

613705;

UMLS CUI

C1866070;

Automatic exact mappings (from CISMeF team)
- orofacial cleft 10 [DO Concept]
- small ubiquitin like modifier 1 [ORDO Gene]
- small ubiquitin like modifier 1 [HGNC gene]
Currated CISMeF NLP mapping
- orofacial cleft 10 [MeSH concept]
- orofacial cleft 10 [MeSH Supplementary Concept]
DO Cross reference
- orofacial cleft 10 [DO Concept]
Genes related to phenotype
- Small ubiquitin-like modifier 1 [OMIM gene]
HPO term(s)
- Sporadic [HPO term]
- Unilateral cleft lip [HPO term]
- Unilateral cleft palate [HPO term]
ORDO concept(s)
- Cleft lip/palate [ORDO Disease]
See also inter- (CISMeF)
- SUMO1 wt Allele [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- orofacial cleft 10 [MeSH Supplementary Concept]
- orofacial cleft 10 [MeSH concept]
Validated automatic mappings to NTBT
- Cleft lip with or without cleft palate [ORDO Disease]

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