macrocephaly-hemangioma syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skin
gptkb:nervous_system limbs |
| gptkbp:causedBy |
PIK3CA gene mutation
|
| gptkbp:frequency |
very rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
macrocephaly-hemangioma syndrome
|
| gptkbp:ICD-10_code |
Q87.3
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:OMIM |
602501
|
| gptkbp:onset |
congenital
|
| gptkbp:otherName |
gptkb:M-CM_syndrome
gptkb:MCM_syndrome gptkb:macrocephaly-capillary_malformation_syndrome |
| gptkbp:symptom |
asymmetry
polydactyly developmental delay macrocephaly capillary hemangiomas connective tissue dysplasia |
| gptkbp:bfsParent |
gptkb:Bannayan-Riley-Ruvalcaba_syndrome
|
| gptkbp:bfsLayer |
6
|