ZFIN Human Disease: congenital muscular dystrophy with cataracts and intellectual disability

OBO ID: DOID:0080197

Term Name:	congenital muscular dystrophy with cataracts and intellectual disability		Search Ontology:
Synonyms:
Definition:	A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/28190459
References:	OMIM:617404
Ontology:	Human Disease ( DOID:0080197 )

Relationships

is a type of:	autosomal recessive disease congenital muscular dystrophy autosomal recessive disease congenital muscular dystrophy Show first 5 Terms

OTHER congenital muscular dystrophy with cataracts and intellectual disability PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
INPP5K	inpp5ka inpp5kb	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO2-inpp5ka	standard conditions	Osborn et al., 2017

PHENOTYPE No data available

CITATIONS (1)