Lymphatic malformation 8

Preferred Label : Lymphatic malformation 8;

Symbol : LMPHM8;

CISMeF acronym : LMPHM8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcitonin receptor-like gene (CALCRL, 114190.0001);

Laboratory abnormalities : Abnormal lymphangiogenesis;

Prefixed ID : #618773;

Détails

Origin ID

618773;

UMLS CUI

C5231496;

Genes related to phenotype
- Calcitonin receptor-like receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Generalized edema [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Pericardial effusion [HPO term]
- Pleural effusion [HPO term]
- Polyhydramnios [HPO term]
- Stillbirth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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