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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

KRT17

PCHC1

PC2
Has manifestation

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

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

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]

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

Onset in adolescence to early adulthood [MISCELLANEOUS]
tui

T191
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http://purl.bioontology.org/ontology/MESH/D062685 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D062685 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0111556 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10/L72.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/L72.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.obolibrary.org/obo/HP_0012035 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/L72.2 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/L72.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/L72.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM