Parietal foramina with cleidocranial dysplasia

Preferred Label : Parietal foramina with cleidocranial dysplasia;

Symbol : PFMCCD;

CISMeF acronym : PFMCCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleidocranial dysplasia with parietal foramina;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the msh homeobox 2 gene (MSX2, 123101.0007);

Prefixed ID : #168550;

Details

Origin ID

168550;

UMLS CUI

C1868597;

Currated CISMeF NLP mapping
- Parietal foramina with clavicular hypoplasia [ORDO Disease]
- Parietal foramina with clavicular hypoplasia (disorder) [SNOMED CT concept]
- parietal foramina with cleidocranial dysplasia [MeSH concept]
- parietal foramina with cleidocranial dysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Msh homeobox 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dermoid cyst [HPO term]
- Hypoplastic clavicles [HPO term]
- Macrocephaly [HPO term]
- Microtia [HPO term]
- Parietal foramina [HPO term]
- Short clavicles [HPO term]
- Symmetrical, oval parietal bone defects [HPO term]
- Widely patent fontanelles and sutures [HPO term]
ORDO concept(s)
- Parietal foramina with clavicular hypoplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parietal foramina with clavicular hypoplasia [ORDO Disease]
- Parietal foramina with clavicular hypoplasia (disorder) [SNOMED CT concept]
- parietal foramina with cleidocranial dysplasia [MeSH Supplementary Concept]
- parietal foramina with cleidocranial dysplasia [MeSH concept]

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