Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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Preferred Name

Bannayan-Riley-Ruvalcaba syndrome
Synonyms

BRRS
Definitions

(BRRS) - A rare hamartomatous disorder characterized by macrocephaly and multiple hemangiomas as well as subcutaneous and visceral lipomas. It belongs to the family of hamartomatous polyposis syndromes that includes Peutz Jeghers syndrome, juvenile polyposis, and Cowden syndrome.
ID

http://identifiers.org/omim/153480
altLabel

BRRS
definition

(BRRS) - A rare hamartomatous disorder characterized by macrocephaly and multiple hemangiomas as well as subcutaneous and visceral lipomas. It belongs to the family of hamartomatous polyposis syndromes that includes Peutz Jeghers syndrome, juvenile polyposis, and Cowden syndrome.
id

OMIM:153480
notation

OMIM:153480
prefLabel

Bannayan-Riley-Ruvalcaba syndrome
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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http://identifiers.org/omim/153480 REXO SAME_URI
http://identifiers.org/omim/153480 GEXO 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://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.obolibrary.org/obo/DOID_0050657 FNS-H 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