platelet-type bleeding disorder 15 - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	platelet-type bleeding disorder 15	go back to main search page
Accession:	DOID:0111053	browse the term
Definition:	A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)
Synonyms:	exact_synonym:	ACTN1-RELATED CONDITION; BDPLT15; BLEEDING DISORDER, PLATELET-TYPE, 15; Bleeding disorder platelet type macrothrombocytopenia; MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
	primary_id:	OMIM:615193

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Genes (2)

platelet-type bleeding disorder 15

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Actn1

actinin alpha 1

ISO

ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15

OMIM
ClinVar

PMID:9536098 PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 More...

NCBI chrNW_004936495:12,124,489...12,217,223
Ensembl chrNW_004936495:12,124,443...12,217,242

Fli1

Fli-1 proto-oncogene, ETS transcription factor

ISO

ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia

ClinVar

PMID:23809206 PMID:26316623

NCBI chrNW_004936572:3,448,870...3,576,406
Ensembl chrNW_004936572:3,448,862...3,577,836

Term paths to the root

Path 1
Term	Annotations
disease	16465
Pathological Conditions, Signs and Symptoms	11287
Pathologic Processes	6997
Hemorrhage	260
platelet-type bleeding disorder 15	2
Path 2
Term	Annotations
disease	16465
disease of anatomical entity	14117
Hemic and Lymphatic Diseases	3445
hematopoietic system disease	2990
blood coagulation disease	861
hemorrhagic disease	816
blood platelet disease	314
thrombocytopenia	244
platelet-type bleeding disorder 15	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS