Lymphatic malformation 3

Preferred Label : Lymphatic malformation 3;

Symbol : LMPHM3;

CISMeF acronym : LMPH1C; LMPHM3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lymphedema, hereditary, ic; LMPH1C;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Gap junction protein, gamma-2 gene (GJC2, 608803.0009);

Prefixed ID : #613480;

Details

Origin ID

613480;

UMLS CUI

C4747646;

Currated CISMeF NLP mapping
- hereditary lymphedema IC [DO Concept]
DO Cross reference
- hereditary lymphedema IC [DO Concept]
Genes related to phenotype
- Gap junction protein, gamma-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cellulitis [HPO term]
- Incomplete penetrance [HPO term]
- Lymphedema [HPO term]
- Recurrent skin infections [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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