loading...| Preferred Name |
Bannayan-Riley-Ruvalcaba syndrome |
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| Synonyms |
Cowden syndrome 1 Ruvalcaba-Myhre-Smith syndrome |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. A Cowden 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050657 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
ICD10CM:Q87.89 OMIM:158350 MESH:D006223 GARD:5887 NCI:C3939 ORDO:109 |
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| has exact synonym |
Cowden syndrome 1 Ruvalcaba-Myhre-Smith syndrome Riley-Smith syndrome Bannayan-Zonana syndrome |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0050657 |
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| in_subset | ||
| label |
Bannayan-Riley-Ruvalcaba syndrome |
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| notation |
DOID:0050657 |
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| prefLabel |
Bannayan-Riley-Ruvalcaba syndrome |
|
| textual definition |
A Cowden 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. |
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| subClassOf |