Cole-carpenter syndrome 2

Preferred Label : Cole-carpenter syndrome 2;

Symbol : CLCRP2;

CISMeF acronym : CLCRP2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SEC24-related gene family, member D gene (SEC24D, 607186.0001);

Prefixed ID : #616294;

Details

Origin ID

616294;

UMLS CUI

C4225382;

DO Cross reference
- Cole-Carpenter syndrome [DO Concept]
Genes related to phenotype
- Sec24-related gene family, member D [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Coronal craniosynostosis [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frontal bossing [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Kyphosis [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Macrocephaly [HPO term]
- Microretrognathia [HPO term]
- Midface retrusion [HPO term]
- Narrow iliac wing [HPO term]
- Oligohydramnios [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Platyspondyly [HPO term]
- Postnatal growth retardation [HPO term]
- Proptosis [HPO term]
- Short stature [HPO term]
- Thin ribs [HPO term]
- Triangular face [HPO term]
- Turricephaly [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
ORDO concept(s)
- Cole-Carpenter syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cole-Carpenter syndrome [DO Concept]
- Cole-Carpenter syndrome [ORDO Disease]

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