Preferred Name |
Bannayan-Riley-Ruvalcaba syndrome |
|
Synonyms |
Ruvalcaba-Myhre-Smith syndrome |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050657 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ICD10CM:Q87.89 OMIM:158350 MESH:D006223 GARD:5887 NCI:C3939 ORDO:109 |
|
has exact synonym |
Ruvalcaba-Myhre-Smith syndrome Riley-Smith syndrome Bannayan-Zonana syndrome |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050657 |
|
imported from | ||
in_subset | ||
label |
Bannayan-Riley-Ruvalcaba syndrome |
|
notation |
DOID:0050657 |
|
prefLabel |
Bannayan-Riley-Ruvalcaba syndrome |
|
textual definition |
A syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. |
|
subClassOf |
http://purl.obolibrary.org/obo/DOID_1529 |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.