loading...| Preferred Name |
PARIETAL FORAMINA 1 |
| Synonyms |
CRANIUM BIFIDUM, HEREDITARY |
| ID |
http://purl.bioontology.org/ontology/OMIM/168500 |
| altLabel |
CRANIUM BIFIDUM, HEREDITARY PARIETAL FORAMINA, SYMMETRIC CATLIN MARKS CRANIUM BIFIDUM OCCULTUM FORAMINA PARIETALIA PERMAGNA PFM1 PFM FPP |
| cui |
C1868599 C1868598 |
| Gene Locus |
5q34-q35 |
| Gene Symbol |
CRS2 HOX8 MSX2 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU000609 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU036348 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
168500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PARIETAL FORAMINA 1 |
| Scope Statement |
Caused by mutation in the msh homeobox 2 gene (MSX2, 123101.0002) [MOLECULAR BASIS] See also PFM3 on chromosome 4q21-q23 (609566) [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Parietal foramina-2 (PFM2, 609597) are caused by mutations in the ALX4 gene (605420) [MISCELLANEOUS] |
| tui |
T019 |