Cleft palate, cardiac defects, and impaired intellectual development

Preferred Label : Cleft palate, cardiac defects, and impaired intellectual development;

Symbol : CPCMR;

CISMeF acronym : CPCMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies; Cleft palate, cardiac defects, and mental retardation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Meis homeobox 2 (MEIS2, 601740.0001);

Prefixed ID : #600987;

Details

Origin ID

600987;

UMLS CUI

C1832950;

Automatic exact mappings (from CISMeF team)
- cleft palate, cardiac defects, and intellectual disabillity [DO Concept]
Currated CISMeF NLP mapping
- cardiac malformation, cleft Lip-Palate, microcephaly and digital anomalies [MeSH concept]
- cardiac malformation, cleft Lip-Palate, microcephaly and digital anomalies [MeSH Supplementary Concept]
DO Cross reference
- cleft palate, cardiac defects, and intellectual disabillity [DO Concept]
Genes related to phenotype
- Meis homeobox 2 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coarctation of aorta [HPO term]
- Cutaneous syndactyly [HPO term]
- Deeply set eye [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- Highly arched eyebrow [HPO term]
- Intellectual disability [HPO term]
- Large forehead [HPO term]
- Laterally extended eyebrow [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Psychomotor retardation [HPO term]
- Sandal gap [HPO term]
- Short 2nd finger [HPO term]
- Short 5th finger [HPO term]
- Short second and fifth fingers [HPO term]
- Short stature [HPO term]
- Sparse eyebrow [HPO term]
- Tented upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiac malformation, cleft Lip-Palate, microcephaly and digital anomalies [MeSH Supplementary Concept]
- cardiac malformation, cleft Lip-Palate, microcephaly and digital anomalies [MeSH concept]
- cleft palate, cardiac defects, and intellectual disabillity [DO Concept]

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