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DO Term : cleft palate, cardiac defects, and intellectual disability [DOID:0111697] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14.

synonyms:
CPCMR,
UMLS_CUI:C1832950,
OMIM:600987,
cleft palate, cardiac defects, and mental retardation,
600987,
MESH:C563414,
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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