Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Preferred Label : Radioulnar synostosis with amegakaryocytic thrombocytopenia 2;

Symbol : RUSAT2;

CISMeF acronym : RUSAT2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MDS1 and EVI1 complex locus gene (MECOM, 165215.0001);

Prefixed ID : #616738;

Details

Origin ID

616738;

UMLS CUI

C4225221;

Automatic exact mappings (from CISMeF team)
- MECOM wt Allele [NCIt concept]
Genes related to phenotype
- Mds1 and evi1 complex locus [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Congenital thrombocytopenia [HPO term]
- Hydrocele testis [HPO term]
- Hydrops fetalis [HPO term]
- Intellectual disability, mild [HPO term]
- Limited pronation/supination of forearm [HPO term]
- Neutropenia [HPO term]
- Overlapping fingers [HPO term]
- Radioulnar synostosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short middle phalanx of the 4th finger [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Hepatosplenomegaly [HPO term]
ORDO concept(s)
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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