Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development

Preferred Label : Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development;

Symbol : COB1;

CISMeF acronym : COB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 65-kd YES-associated protein-1 gene (YAP1, 606608.0001);

Prefixed ID : #120433;

Details

Origin ID

120433;

UMLS CUI

C3805432;

Automatic exact mappings (from CISMeF team)
- YAP1 wt Allele [NCIt concept]
- uveal coloboma-cleft lip and palate-intellectual disability [DO Concept]
Currated CISMeF NLP mapping
- Coloboma, cleft lip-palate and mental retardation syndrome [MeSH Supplementary Concept]
- Uveal coloboma - cleft lip and palate - intellectual deficit [ICD-11 More detail]
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Uveal coloboma-cleft lip and palate-intellectual disability [ORDO Disease]
- coloboma, uveal, with cleft lip and palate and mental retardation [MeSH concept]
- coloboma, uveal, with cleft lip and palate and mental retardation [MeSH Supplementary Concept]
DO Cross reference
- uveal coloboma-cleft lip and palate-intellectual disability [DO Concept]
Genes related to phenotype
- Yes1-associated transcriptional regulator [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Chorioretinal coloboma [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coloboma [HPO term]
- Congenital onset [HPO term]
- Hearing impairment [HPO term]
- Hematuria [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Microphthalmia [HPO term]
- Ptosis [HPO term]
ORDO concept(s)
- Uveal coloboma-cleft lip and palate-intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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