Bleeding disorder, platelet-type, 19

Preferred Label : Bleeding disorder, platelet-type, 19;

Symbol : BDPLT19;

CISMeF acronym : BDPLT19;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cAMP-dependent protein kinase, catalytic, gamma gene (PRKACG, 176893.0001);

Prefixed ID : #616176;

Details

Origin ID

616176;

UMLS CUI

C4015405;

CISMeF manual mappings
- platelet-type bleeding disorder 19 [DO Concept]
Currated CISMeF NLP mapping
- Severe autosomal recessive macrothrombocytopenia [ORDO Disease]
- Severe autosomal recessive macrothrombocytopenia (disorder) [SNOMED CT concept]
DO Cross reference
- platelet-type bleeding disorder 19 [DO Concept]
Genes related to phenotype
- Protein kinase, camp-dependent, catalytic, gamma [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epistaxis [HPO term]
- Macrothrombocytopenia [HPO term]
- Menorrhagia [HPO term]
- Spontaneous hematomas [HPO term]
ORDO concept(s)
- Severe autosomal recessive macrothrombocytopenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- platelet-type bleeding disorder 19 [DO Concept]

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