Limb-mammary syndrome

Preferred Label : Limb-mammary syndrome;

Symbol : LMS;

CISMeF acronym : LMS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the tumor protein 63 gene (TP63, 603273.0012);

Prefixed ID : #603543;

Détails

Origin ID

603543;

UMLS CUI

C1863753;

Automatic exact mappings (from CISMeF team)
- Lateral medullary syndrome [ICD-11 More detail]
- Leiomyosarcoma [MedDRA Preferred Term]
- Leiomyosarcomas [MedDRA High Level Term]
- Limb-mammary syndrome [ICD-11 More detail]
- Lumen [NCIt concept]
- Rare lymphatic malformation [ORDO Disease]
- TP63 wt Allele [NCIt concept]
- leiomyosarcoma [MeSH Descriptor]
- leiomyosarcoma [MeSH concept]
- leiomyosarcoma, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Limb-mammary syndrome [MeSH concept]
- Limb-mammary syndrome [ORDO Disease]
- limb-mammary syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Tumor protein p63 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Hallux valgus [HPO term]
- Hypodontia [HPO term]
- Hypohidrosis [HPO term]
- Hypoplastic nipples [HPO term]
- Joint contracture of the hand [HPO term]
- Lacrimal duct atresia [HPO term]
- Nail dysplasia [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Limb-mammary syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Limb mammary syndrome (disorder) [SNOMED CT concept]
- Limb-mammary syndrome [ORDO Disease]
- Limb-mammary syndrome [MeSH concept]
- limb-mammary syndrome [MeSH Supplementary Concept]

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

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