ZFIN Human Disease: Alstrom syndrome

OBO ID: DOID:0050473

Term Name:	Alstrom syndrome		Search Ontology:
Synonyms:
Definition:	A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. http://en.wikipedia.org/wiki/Alstrom_syndrome
References:	MESH:D056769 NCI:C84549 OMIM:203800 SNOMEDCT_US_2023_03_01:63702009 UMLS_CUI:C0268425
Ontology:	Human Disease ( DOID:0050473 )

Relationships

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

OTHER Alstrom syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALMS1	alms1	Alstrom syndrome	203800

ZEBRAFISH MODELS

Fish	Conditions	Citations
alms1^umd2/umd2	standard conditions	Nesmith et al., 2019
TU + MO1-alms1	standard conditions	Hostelley et al., 2016

PHENOTYPE No data available

CITATIONS (2)