FNS-Harmony

Last uploaded: November 2, 2023
Jump to:
loading...
Preferred Name

Birt-Hogg-Dube syndrome
Synonyms
Definitions

A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11.
ID

http://purl.obolibrary.org/obo/DOID_0050676
definition

A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11.
imported from

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

Birt-Hogg-Dube syndrome
prefixIRI

DOID:0050676
prefLabel

Birt-Hogg-Dube syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_37

http://purl.obolibrary.org/obo/DOID_0050736
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050676 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050676 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050676 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050676 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050676 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0800444 MONDO LOOM
http://www.ebi.ac.uk/efo/EFO_0700020 EFO LOOM
http://purl.obolibrary.org/obo/OMIT_0027147 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C28244 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.212 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D058249 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.212 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D058249 MDM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067736 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058249 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050676 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050676 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050676 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050676 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050676 NIFSTD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28244 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8627 HRDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038147 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DERMO_0000599 DERMO LOOM
http://identifiers.org/omim/135150 REXO LOOM
http://identifiers.org/omim/135150 GEXO LOOM
http://identifiers.org/omim/135150 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0007607 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0007607 KTAO LOOM
http://purl.obolibrary.org/obo/OMIM_135150 CCO LOOM
http://www.ebi.ac.uk/efo/EFO_0700020 EFO LOOM
http://purl.jp/bio/4/id/200906072735210413 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0346010 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/X78SQ RCD LOOM
http://purl.bioontology.org/ontology/RCTV2/B76C.00 RCTV2 LOOM