Bleeding disorder, platelet-type, 9

Preferred Label : Bleeding disorder, platelet-type, 9;

Symbol : BDPLT9;

CISMeF acronym : BDPLT9;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Gp ia deficiency; Collagen platelet receptor deficiency; Glycoprotein ia deficiency;

Inheritance : Autosomal dominant;

Prefixed ID : %614200;

Details

Origin ID

614200;

UMLS CUI

C3280114;

Automatic exact mappings (from CISMeF team)
- Bleeding diathesis due to integrin alpha2-beta1 deficiency [ORDO Disease]
- platelet receptor for collagen, deficiency of [MeSH concept]
- platelet receptor for collagen, deficiency of [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- glycoprotein IA deficiency [MeSH concept]
- glycoprotein IA deficiency [MeSH Supplementary Concept]
- platelet-type bleeding disorder 9 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 9 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Congenital onset [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Bleeding diathesis due to a collagen receptor defect [ORDO Disease]
- Bleeding diathesis due to integrin alpha2-beta1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bleeding diathesis due to integrin alpha2-beta1 deficiency [ORDO Disease]
- glycoprotein IA deficiency [MeSH Supplementary Concept]
- glycoprotein IA deficiency [MeSH concept]
- platelet-type bleeding disorder 9 [DO Concept]

Keyword's position in hierarchy(ies) :

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