FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Bannayan-Riley-Ruvalcaba syndrome
Synonyms
Definitions

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
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.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Bannayan-Riley-Ruvalcaba syndrome
prefixIRI

DOID:0050657
prefLabel

Bannayan-Riley-Ruvalcaba syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_1529

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_0050657 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050657 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050657 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050657 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050657 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050657 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050657 DOID LOOM
rgo:01237 GAMUTS LOOM
rgo:01237 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0007924 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007924 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050657 DOID LOOM
http://purl.obolibrary.org/obo/DERMO_0000619 DERMO LOOM
http://identifiers.org/omim/153480 REXO LOOM
http://identifiers.org/omim/153480 GEXO LOOM
http://identifiers.org/omim/153480 RETO LOOM
http://purl.obolibrary.org/obo/NCIT_C3939 BERO LOOM
http://purl.obolibrary.org/obo/DOID_0050657 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050657 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050657 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050657 NIFSTD LOOM
http://purl.bioontology.org/ontology/ISSVA/ISSVA_028 ISSVA LOOM
http://id.nlm.nih.gov/mesh/D006223 MDM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080314 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy0000 RCTV2 LOOM
http://www.orpha.net/ORDO/Orphanet_109 ORDO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000758212 PDQ LOOM
http://purl.obolibrary.org/obo/MONDO_0007924 DOVES LOOM
http://www.gamuts.net/entity#Bannayan_Riley_Ruvalcaba_syndrome GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3939 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1473 HRDO LOOM
http://purl.obolibrary.org/obo/OMIM_153480 CCO LOOM