Lymphatic malformation 4

Preferred Label : Lymphatic malformation 4;

Symbol : LMPHM4;

CISMeF acronym : LMPH1D; LMPHM4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lymphedema, hereditary, id; LMPH1D;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the vascular endothelial growth factor C gene (VEGFC, 601528.0001);

Prefixed ID : #615907;

Details

Origin ID

615907;

UMLS CUI

C4747769;

Currated CISMeF NLP mapping
- hereditary lymphedema ID [DO Concept]
DO Cross reference
- hereditary lymphedema ID [DO Concept]
Genes related to phenotype
- Vascular endothelial growth factor C [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cellulitis [HPO term]
- Hydrocele testis [HPO term]
- Hyperkeratosis [HPO term]
- Lymphedema [HPO term]
- Toenail dysplasia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Milroy disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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