Lymphatic malformation 7

Preferred Label : Lymphatic malformation 7;

Symbol : LMPHM7;

CISMeF acronym : HFASD; LMPHM7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydrops fetalis, nonimmune, and/or atrial septal defect; HFASD; Central conduction lymphatic anomaly;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ephrin receptor EphB4 gene (EPHB4, 600011.0001);

Prefixed ID : #617300;

Details

Origin ID

617300;

UMLS CUI

C4310629;

Genes related to phenotype
- Ephrin receptor ephb4 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Anemia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Edema [HPO term]
- Facial edema [HPO term]
- Lymphedema [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Pericardial effusion [HPO term]
- Pulmonary edema [HPO term]
- Respiratory distress [HPO term]
- Variable expressivity [HPO term]
- Varicose veins [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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