Parietal foramina 1

Preferred Label : Parietal foramina 1;

Symbol : PFM1;

CISMeF acronym : FPP; PFM; PFM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Foramina parietalia permagna; Parietal foramina, symmetric; Cranium bifidum occultum; FPP; Catlin marks; PFM; Cranium bifidum, hereditary;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the msh homeobox 2 gene (MSX2, 123101.0002);

Prefixed ID : #168500;

Details

Origin ID

168500;

UMLS CUI

C1868599;

Automatic exact mappings (from CISMeF team)
- ALX homeobox 4 [ORDO Gene]
- ALX4 wt Allele [NCIt concept]
- Cisplatin/Fluorouracil/Methotrexate Regimen [NCIt concept]
- Craniolacunia (disorder) [SNOMED CT concept]
- Free Protoporphyrin Measurement [NCIt concept]
- PR Domain Zinc Finger Protein 4 [NCIt concept]
- PR/SET domain 4 [HGNC gene]
- PRDM4 wt Allele [NCIt concept]
- msh homeobox 2 [ORDO Gene]
- parietal foramina 1 [MeSH concept]
- parietal foramina 1 [MeSH Supplementary Concept]
- symbol withdrawn PFM1 [HGNC gene]
Currated CISMeF NLP mapping
- Cranium bifidum occultum [HPO term]
- Enlarged parietal foramina [ORDO Disease]
- Enlarged parietal foramina (disorder) [SNOMED CT concept]
- Entire parietal foramen (body structure) [SNOMED CT concept]
- Parietal foramen [FMA entity]
- Parietal foramen [ACR pathology]
- Parietal foramina [ICD-11 More detail]
- Parietal foramina [HPO term]
- Structure of parietal foramen (body structure) [SNOMED CT concept]
- enlarged parietal foramina [Radlex concept]
- parietal foramen [Radlex concept]
- parietal foramen [SNOMED Notion]
- parietal foramina [DO Concept]
- parietal foramina [MeSH concept]
- parietal foramina [MeSH Supplementary Concept]
DO Cross reference
- parietal foramina [DO Concept]
Genes related to phenotype
- Msh homeobox 2 [OMIM gene]
HPO term(s)
- Aplasia cutis congenita of scalp [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Encephalocele [HPO term]
- Headache [HPO term]
- Heterogeneous [HPO term]
- Parietal foramina [HPO term]
- Seizure [HPO term]
- Symmetrical, oval parietal bone defects [HPO term]
ORDO concept(s)
- Enlarged parietal foramina [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- parietal foramina 1 [MeSH concept]
- parietal foramina 1 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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