loading...| Preferred Name |
CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH |
|
| Synonyms |
CLAPO |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/613089 |
|
| altLabel |
CLAPO LOPEZ-GUTIERREZ SYNDROME |
|
| cui |
C2751313 |
|
| Gene Locus |
3q26.3 |
|
| Gene Symbol |
CWS5 MCAP MCMTC CCM4 PIK3CA MCM CLOVE CLAPO |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016697 http://purl.bioontology.org/ontology/OMIM/MTHU061846 http://purl.bioontology.org/ontology/OMIM/MTHU017328 http://purl.bioontology.org/ontology/OMIM/MTHU045256 http://purl.bioontology.org/ontology/OMIM/MTHU001042 http://purl.bioontology.org/ontology/OMIM/MTHU010058 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
613089 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH |
|
| Scope Statement |
Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0002) [MOLECULAR BASIS] |
|
| tui |
T047 T019 |