Cowden syndrome 5

Preferred Label : Cowden syndrome 5;

Symbol : CWS5;

CISMeF acronym : CWS5;

Type : Phenotype, molecular basis known;

Prefixed ID : #615108;

Détails

Origin ID

615108;

UMLS CUI

C3554518;

Currated CISMeF NLP mapping
- Cowden syndrome 5 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
HPO term(s)
- Abnormality of the cardiovascular system [HPO term]
- Adult onset [HPO term]
- Angioid streaks of the fundus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Cataract [HPO term]
- Colonic diverticula [HPO term]
- Furrowed tongue [HPO term]
- Goiter [HPO term]
- Gynecomastia [HPO term]
- Hamartomatous polyposis [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hydrocele testis [HPO term]
- Hyperthyroidism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intention tremor [HPO term]
- Kyphosis [HPO term]
- Meningioma [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Ovarian cyst [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Pectus excavatum [HPO term]
- Progressive macrocephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skin tags [HPO term]
- Subcutaneous lipoma [HPO term]
- Thyroid adenoma [HPO term]
- Thyroiditis [HPO term]
- Transitional cell carcinoma of the bladder [HPO term]
ORDO concept(s)
- Cowden syndrome [ORDO Disease]
See also inter- (CISMeF)
- PIK3CA wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cowden syndrome [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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