Terminology Service for NFDI4Health
JSON

ceft palate, cardiac defects, and intellectual disabillity

Go to external page http://purl.obolibrary.org/obo/DOID_0111697

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 MEIS2 on chromosome 15q14. [ https://www.ncbi.nlm.nih.gov/pubmed/24678003 http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

ceft palate, cardiac defects, and intellectual disabillity

Synonyms
  • CPCMR
  • cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
  • cleft palate, cardiac defects, and mental retardation
database cross reference
has obo namespace

disease_ontology

id

DOID:0111697