Macrothrombocytopenia and progressive sensorineural deafness

Preferred Label : Macrothrombocytopenia and progressive sensorineural deafness;

Obsolete resource : true;

Moved to : 155100;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the myosin, heavy polypeptide-9, nonmusclegene (myh9, 160775.0010);

Laboratory abnormalities : Thrombocytopenia (33-120 x 10(9)/l); Normal to prolonged bleeding time;

Prefixed ID : 600208;

Details

Origin ID

600208;

UMLS CUI

C1834478;

Automatic exact mappings (from CISMeF team)
- macrothrombocytopenia progressive deafness [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- MYH9-related disease [ORDO Disease]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the urinary system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Giant platelets [HPO term]
- Macrothrombocytopenia [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Prolonged bleeding time [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Abnormality of the kidney [HPO term]
- Cataract [HPO term]
ORDO concept(s)
- MYH9-related disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrothrombocytopenia progressive deafness [MeSH concept]
- macrothrombocytopenia progressive deafness [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- MYH9 macrothrombocytopenia syndromes [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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