Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

STEATOCYSTOMA MULTIPLEX
Synonyms

SEBACEOUS CYSTS, MULTIPLE
ID

http://purl.bioontology.org/ontology/OMIM/184500
altLabel

SEBACEOUS CYSTS, MULTIPLE
cui

C0259771
Gene Locus

17q12-q21
Gene Symbol

PC2

KRT17

PCHC1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU015488

http://purl.bioontology.org/ontology/OMIM/MTHU015486

http://purl.bioontology.org/ontology/OMIM/MTHU015487
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

184500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

STEATOCYSTOMA MULTIPLEX
Scope Statement

Caused by mutation in the keratin 17 gene (KRT17, 148069.0004) [MOLECULAR BASIS]

Onset in adolescence to early adulthood [MISCELLANEOUS]

Allelic to pachyonychia congenita Jackson-Lawler type (167210) [MISCELLANEOUS]
tui

T191
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10048905 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109433009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10/L72.2 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10048905 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000185611 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D062685 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D062685 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10048905 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/109433009 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X78S1 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/L72.2 ICD10CM CUI
http://purl.obolibrary.org/obo/DOID_0111556 DOID LOOM
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://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.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