Parietal foramina 2

Preferred Label : Parietal foramina 2;

Symbol : PFM2;

CISMeF acronym : PFM2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the mouse aristaless-like 4 gene (ALX4, 605420.0001);

Prefixed ID : #609597;

Détails

Origin ID

609597;

UMLS CUI

C1865044;

Automatic exact mappings (from CISMeF team)
- ALX4 wt Allele [NCIt concept]
- PR/SET domain 5 [ORDO Gene]
- PR/SET domain 5 [HGNC gene]
- PRDM5 wt Allele [NCIt concept]
- symbol withdrawn PFM2 [HGNC gene]
Broader ORDO disease(s)
- Enlarged parietal foramina [ORDO Disease]
Currated CISMeF NLP mapping
- parietal foramina 2 [MeSH concept]
- parietal foramina 2 [MeSH Supplementary Concept]
DO Cross reference
- parietal foramina [DO Concept]
Genes related to phenotype
- Aristaless homeobox 4 [OMIM gene]
HPO term(s)
- Aplasia cutis congenita of scalp [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Encephalocele [HPO term]
- Hypertelorism [HPO term]
- Parietal foramina [HPO term]
- Symmetrical, oval parietal bone defects [HPO term]
- Wide nasal ridge [HPO term]
ORDO concept(s)
- Enlarged parietal foramina [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- parietal foramina 2 [MeSH Supplementary Concept]
- parietal foramina 2 [MeSH concept]
Validated automatic mappings to NTBT
- parietal foramina [DO Concept]

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