Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
gptkb:nervous_system circulatory system |
| gptkbp:alternativeName |
gptkb:MCM_syndrome
Macrocephaly-capillary malformation syndrome |
| gptkbp:causedBy |
mutation in PIK3CA gene
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:2512
|
| https://www.w3.org/2000/01/rdf-schema#label |
M-CM syndrome
|
| gptkbp:ICD-10_code |
Q87.3
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:OMIM |
602501
|
| gptkbp:onset |
congenital
|
| gptkbp:symptom |
developmental delay
macrocephaly overgrowth asymmetry of the body capillary malformations |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:macrocephaly-hemangioma_syndrome
|
| gptkbp:bfsLayer |
7
|