Bannayan–Riley–Ruvalcaba syndrome
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:genetic_disorder |
| gptkbp:alsoKnownAs |
gptkb:BRRS
|
| gptkbp:associatedWith |
gptkb:PTEN_hamartoma_tumor_syndrome
|
| gptkbp:category |
gptkb:rare_disease
syndromes affecting head size |
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:110
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PTEN_gene
|
| gptkbp:namedAfter |
gptkb:Earl_Riley
gptkb:George_Bannayan gptkb:Rodolfo_Ruvalcaba |
| gptkbp:OMIM |
153480
|
| gptkbp:symptom |
developmental delay
macrocephaly hemangiomas intestinal polyposis lipomas pigmented macules of the glans penis |
| gptkbp:bfsParent |
gptkb:MMAC1
gptkb:PTEN gptkb:phosphatase_and_tensin_homolog |
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bannayan–Riley–Ruvalcaba syndrome
|