ZFIN Human Disease: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

OBO ID: DOID:0080209

Term Name:	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay		Search Ontology:
Synonyms:	SIFD
Definition:	A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. (2)
References:	OMIM:616084
Ontology:	Human Disease ( DOID:0080209 )

Relationships

is a type of:	autosomal recessive disease sideroblastic anemia autosomal recessive disease sideroblastic anemia Show first 5 Terms

OTHER sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRNT1	trnt1	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084

ZEBRAFISH MODELS

Fish	Conditions	Citations
trnt1^hg38/hg38	standard conditions	Giannelou et al., 2018
trnt1^hg39/hg39	standard conditions	Giannelou et al., 2018

PHENOTYPE No data available

CITATIONS (1)