ZFIN Human Disease: mucopolysaccharidosis type IIIA

OBO ID: DOID:0111395

Term Name:	mucopolysaccharidosis type IIIA		Search Ontology:
Synonyms:	heparan sulfamidase deficiency MPS3A MPSIIIA mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A) Sanfilippo syndrome type A
Definition:	A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. (2)
References:	ICD10CM:E76.22 MESH:D009084 NCI:C84897 OMIM:252900 ORDO:79269 SNOMEDCT_US_2023_03_01:254070003 UMLS_CUI:C0086647
Ontology:	Human Disease ( DOID:0111395 )

Relationships

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

OTHER mucopolysaccharidosis type IIIA PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SGSH	sgsh	Mucopolysaccharidosis type IIIA (Sanfilippo A)	252900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)