Cowden syndrome 7

Preferred Label : Cowden syndrome 7;

Symbol : CWS7;

CISMeF acronym : CWS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SEC23 homolog B, coat complex II component gene (SEC23B, 610512.0007);

Neoplasia : Trichilemmoma; Thyroid cancer, papillary; Ductal carcinoma in situ; Thyroid cancer, follicular variant papillary; Skin cancer; Endometrial cancer; Breast cancer;

Prefixed ID : #616858;

Details

Origin ID

616858;

UMLS CUI

C4225179;

Currated CISMeF NLP mapping
- Cowden syndrome 7 [DO Concept]
Genes related to phenotype
- Sec23 homolog b, coat complex II component [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Ductal carcinoma in situ [HPO term]
- Goiter [HPO term]
- Hashimoto thyroiditis [HPO term]
- Hemangioma [HPO term]
- Intestinal polyposis [HPO term]
- Macrocephaly [HPO term]
- Papillary thyroid carcinoma [HPO term]
- Papilloma [HPO term]
- Trichilemmoma [HPO term]
ORDO concept(s)
- Cowden syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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