ZFIN Human Disease: congenital amegakaryocytic thrombocytopenia

OBO ID: DOID:0090118

Term Name:	congenital amegakaryocytic thrombocytopenia		Search Ontology:
Synonyms:	CAMT congenital amegakaryocytic thrombocytopenic purpura
Definition:	A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. (3)
References:	GARD:640 MESH:C535982 NCI:C115207 OMIM:604498 ORDO:3319 SNOMEDCT_US_2023_03_01:716336002 UMLS_CUI:C1327915
Ontology:	Human Disease ( DOID:0090118 )

Relationships

is a type of:	autosomal recessive disease physical disorder thrombocytopenia autosomal recessive disease physical disorder thrombocytopenia Show first 5 Terms

OTHER congenital amegakaryocytic thrombocytopenia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MPL	mpl	Amegakaryocytic thrombocytopenia, congenital, 1	604498

ZEBRAFISH MODELS

Fish	Conditions	Citations
mpl^sm10/sm10 (AB)	standard conditions	Lin et al., 2017
mpl^sm10/sm10; la2Tg	standard conditions	Lin et al., 2017
mpl^sm10/sm10; sm9Tg	standard conditions	Lin et al., 2017

PHENOTYPE No data available

CITATIONS (1)