Pilomatrixoma - CISMeF

Preferred Label : Pilomatrixoma;

CISMeF acronym : PTR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PTR; Pilomatricoma; Epithelioma calcificans of malherbe;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the beta-1 catenin gene (CTNNB1, 116806.0006);

Prefixed ID : #132600;

Details

Origin ID

132600;

UMLS CUI

C0206711;

Automatic exact mappings (from CISMeF team)
- Pilomatrixoma [HPO term]
- obsolete pitrilysin activity [GO term]
Currated CISMeF NLP mapping
- Benign calcifying epithelioma of Malherbe [PASCAL descriptor]
- Pilomatricoma [NCIt concept]
- Pilomatricoma [MedDRA LLT]
- Pilomatrixoma [ICD-11 More detail]
- Pilomatrixoma [ORDO Disease]
- Pilomatrixoma [ICD-9 code]
- Pilomatrixoma (disorder) [SNOMED CT concept]
- Pilomatrixoma (morphologic abnormality) [SNOMED CT concept]
- pilomatrixoma [DO Concept]
- pilomatrixoma [Disease (Nov.)]
- pilomatrixoma [MeSH Descriptor]
- pilomatrixoma [MeSH concept]
- pilomatrixoma, nos [SNOMED Notion]
DO Cross reference
- pilomatrixoma [DO Concept]
Genes related to phenotype
- Catenin, beta-1 [OMIM gene]
HPO term(s)
- Pilomatrixoma [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Pilomatrixoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Pilomatricoma [MedDRA LLT]
- Pilomatricoma [NCIt concept]
- Pilomatrixoma [ORDO Disease]
- Pilomatrixoma [HPO term]
- Pilomatrixoma (disorder) [SNOMED CT concept]
- Pilomatrixoma (morphologic abnormality) [SNOMED CT concept]
- pilomatrixoma [MeSH Descriptor]
- pilomatrixoma [MeSH concept]
- pilomatrixoma [DO Concept]
- pilomatrixoma [Disease (Nov.)]
- pilomatrixoma, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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