Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Preferred Label : Radioulnar synostosis with amegakaryocytic thrombocytopenia 1;

Symbol : RUSAT1;

CISMeF acronym : CTRUS; RUSAT; RUSAT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, congenital, with radioulnar synostosis; CTRUS; RUSAT;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox-A11 gene (HOXA11, 142958.0001);

Laboratory abnormalities : No chromosomal breakage; Normal karyotype;

Prefixed ID : #605432;

Détails

Origin ID

605432;

UMLS CUI

C4551975;

Currated CISMeF NLP mapping
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome [ORDO Disease]
- radioulnar synostosis with amegakaryocytic thrombocytopenia [MeSH concept]
- radioulnar synostosis with amegakaryocytic thrombocytopenia [MeSH Supplementary Concept]
Genes related to phenotype
- Homeobox a11 [OMIM gene]
HPO term(s)
- Amegakaryocytic thrombocytopenia [HPO term]
- Aplastic anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital thrombocytopenia [HPO term]
- Hip dislocation [HPO term]
- Limited pronation/supination of forearm [HPO term]
- Megakaryocytopenia [HPO term]
- Petechiae [HPO term]
- Proximal radio-ulnar synostosis [HPO term]
- Purpura [HPO term]
- Radial bowing [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shallow acetabular fossae [HPO term]
- Syndactyly [HPO term]
- Ulnar bowing [HPO term]
- thrombocytopenia, congenital [HPO term]
ORDO concept(s)
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome [ORDO Disease]
- radioulnar synostosis with amegakaryocytic thrombocytopenia [MeSH Supplementary Concept]
- radioulnar synostosis with amegakaryocytic thrombocytopenia [MeSH concept]

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

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