ZFIN Human Disease: visual impairment and progressive phthisis bulbi

OBO ID: DOID:0070356

Term Name:	visual impairment and progressive phthisis bulbi		Search Ontology:
Synonyms:
Definition:	An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. (3)
References:	MESH:D005128 OMIM:618283
Ontology:	Human Disease ( DOID:0070356 )

Relationships

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

OTHER visual impairment and progressive phthisis bulbi PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MARK3	mark3a mark3b	?Visual impairment and progressive phthisis bulbi	618283

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None