Drug Target Ontology

Last uploaded: February 15, 2018
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    • Preferred Name

    Cowden disease
    Synonyms
    Definitions

    An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. Xref MGI. OMIM mapping confirmed by DO. [SN].

    ID

    http://purl.obolibrary.org/obo/DOID_6457
    comment

    Xref MGI. OMIM mapping confirmed by DO. [SN].

    definition

    An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.
    hasAlternativeId

    DOID:3471
    hasDbXref

    SNOMEDCT_US_2016_03_01:67944007

    ORDO:201

    OMIM:615109

    NCI:C3076

    OMIM:615108

    NCI:C8419

    UMLS_CUI:C0018553

    OMIM:612359

    UMLS_CUI:C0391826

    MESH:D006223

    OMIM:615106

    OMIM:158350

    SNOMEDCT_US_2016_03_01:58037000

    OMIM:615107
    hasExactSynonym

    dysplastic Gangliocytoma of Cerebellum

    Lhermitte-Duclos disease (disorder)
    hasOBONamespace

    disease_ontology
    hasRelatedSynonym

    multiple hamartoma syndrome
    id

    DOID:6457
    imported from

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

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

    Cowden disease
    prefixIRI

    DOID:6457
    prefLabel

    Cowden disease
    subClassOf

    http://purl.obolibrary.org/obo/DOID_0050736
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