ZFIN Human Disease: mucopolysaccharidosis Ih

OBO ID: DOID:0111390

Term Name:	mucopolysaccharidosis Ih		Search Ontology:
Synonyms:	dysostosis multiplex Dysostosis multiplex syndrome gargoylism Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form
Definition:	A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (2)
References:	GARD:12559 ICD10CM:E76.01 MESH:D008059 NCI:C61261 OMIM:607014 ORDO:93473 SNOMEDCT_US_2023_03_01:65327002 UMLS_CUI:C0086795
Ontology:	Human Disease ( DOID:0111390 )

Relationships

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

OTHER mucopolysaccharidosis Ih PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IDUA	idua	Mucopolysaccharidosis Ih	607014

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None