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Platelet-Type Bleeding Disorder 18

Disease ID: disease_node_17059

Connections displayed (default: 10).

Plants :

Formulations :

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Dbxref	ICD10CM:D69.1, MIM:615888, ORDO:420566
Subclassof	DOID_0050737, DOID_2218
Data Source	DOID
Synonyms	BDPLT18, bleeding disorder due to CalDAG-GEFI deficiency, bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Doid Label	platelet-type bleeding disorder 18
Doid Description	A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
Has Symptom	SYMP_0000007
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_17059
Doid Id	DOID_0111051
Label	Platelet-Type Bleeding Disorder 18

Outgoing r'ship HAS_SYMPTOM to/from Bleeding(ID:disease_node_21108) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Blood Platelet Disorders(ID:disease_node_1622) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)

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