ZFIN Human Disease: RNASET2-deficient cystic leukoencephalopathy

OBO ID: DOID:0081007

Term Name:	RNASET2-deficient cystic leukoencephalopathy		Search Ontology:
Synonyms:	cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy
Definition:	A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms
References:	GARD:13199 OMIM:612951 ORDO:85136
Ontology:	Human Disease ( DOID:0081007 )

Relationships

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

OTHER RNASET2-deficient cystic leukoencephalopathy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RNASET2	rnaset2	Leukoencephalopathy, cystic, without megalencephaly	612951

ZEBRAFISH MODELS

Fish	Conditions	Citations
rnaset2^sh532/sh532	standard conditions	Hamilton et al., 2020
rnaset2^sa138/sa138; zf148Tg; zf149Tg	standard conditions	Weber et al., 2020
rnaset2^sa138/sa138; zf149Tg	standard conditions	Weber et al., 2020

PHENOTYPE No data available

CITATIONS (2)