Human Disease Ontology

Last uploaded: June 2, 2024
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Preferred Name

steatocystoma multiplex
Synonyms

multiple sebaceous cysts
Definitions

A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2.
ID

http://purl.obolibrary.org/obo/DOID_0111556
database_cross_reference

MESH:D062685

GARD:5003

MIM:184500

ORDO:841
definition

A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2.
has exact synonym

multiple sebaceous cysts

sebocystomatosis
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:0111556
in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

steatocystoma multiplex
notation

DOID:0111556
prefLabel

steatocystoma multiplex
subClassOf

http://purl.obolibrary.org/obo/DOID_9098

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.obolibrary.org/obo/DOID_0111556 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0111556 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0111556 FNS-H SAME_URI
http://purl.bioontology.org/ontology/SNOMEDCT/109433009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D062685 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039298 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/OMIT_0028132 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.856.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10/L72.2 ICD10 LOOM
http://purl.obolibrary.org/obo/OMIM_184500 CCO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15178 DERMLEX LOOM
http://purl.obolibrary.org/obo/DERMO_0000581 DERMO LOOM
http://id.nlm.nih.gov/mesh/D062685 MDM LOOM
http://purl.bioontology.org/ontology/OMIM/184500 OMIM LOOM
http://www.gamuts.net/entity#steatocystoma_multiplex GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048905 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.856.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D062685 MESH LOOM
http://identifiers.org/omim/184500 REXO LOOM
http://identifiers.org/omim/184500 GEXO LOOM
http://identifiers.org/omim/184500 RETO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU015487 OMIM LOOM
http://purl.obolibrary.org/obo/HP_0012035 HP LOOM
http://purl.obolibrary.org/obo/HP_0012035 UPHENO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0259771 OCHV LOOM
http://purl.bioontology.org/ontology/RCTV2/M2y4400 RCTV2 LOOM
http://purl.jp/bio/4/id/200906054438339875 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.856.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0111556 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111556 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111556 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.529.594.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.856.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X78S1 RCD LOOM
http://purl.bioontology.org/ontology/ICD10CM/L72.2 ICD10CM LOOM