familial hemophagocytic lymphohistiocytosis 4 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	familial hemophagocytic lymphohistiocytosis 4	go back to main search page
Accession:	DOID:0110924	browse the term
Definition:	A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. (DO)
Synonyms:	exact_synonym:	FHL4; HLH4; HPLH4
	primary_id:	MESH:C537252
	alt_id:	OMIM:603552
	xref:	GARD:9929

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Genes (8)

familial hemophagocytic lymphohistiocytosis 4

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-L-fucosidase 2

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

NCBI chr 1:21,742,192...21,762,901
Ensembl chr 1:21,742,495...21,762,900

G

LTV1 ribosome biogenesis factor

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

NCBI chr 1:21,406,949...21,430,252
Ensembl chr 1:21,412,286...21,430,195

G

peroxisomal biogenesis factor 3

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

NCBI chr 1:21,750,194...21,801,625
Ensembl chr 1:21,766,000...21,802,182

G

phosphatase and actin regulator 2

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

NCBI chr 1:21,438,744...21,723,255
Ensembl chr 1:21,443,970...21,722,922

G

PLAG1 like zinc finger 1

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

NCBI chr 1:21,299,830...21,371,070
Ensembl chr 1:21,364,696...21,370,614

G

splicing factor 3b subunit 5

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

NCBI chr 1:21,231,264...21,232,014
Ensembl chr 1:21,231,408...21,231,668

G

syntaxin 11

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More...

NCBI chr 1:21,127,871...21,170,321
Ensembl chr 1:21,127,564...21,159,694

G

zinc finger C2HC-type containing 1B

ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4

NCBI chr 1:21,373,015...21,413,797
Ensembl chr 1:21,373,597...21,413,940

Term paths to the root

Path 1
Term	Annotations
disease	15277
Developmental Disease	13239
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	12326
genetic disease	11993
Familial Hemophagocytic Lymphohistiocytoses	43
familial hemophagocytic lymphohistiocytosis 4	8
Path 2
Term	Annotations
disease	15277
disease of anatomical entity	14911
Immune & Inflammatory Diseases	4961
immune system disease	4299
lymphatic system disease	1578
histiocytosis	91
non-Langerhans-cell histiocytosis	83
hemophagocytic lymphohistiocytosis	55
Familial Hemophagocytic Lymphohistiocytoses	43
familial hemophagocytic lymphohistiocytosis 4	8

paths to the root