RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: mucopolysaccharidosis type IIIC
Accession: DOID:0111393
browse the term
Definition: A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1. (DO)
Synonyms: exact_synonym: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; HGSNAT deficiency; MPS 3 C; MPS III C; MPS IIIC; MPS IIIC - Sanfilippo syndrome C; MPS3C; MPSIIIC; MUCOPOLYSACCHARIDOSIS, MPS-III-C; Mucopolysaccharidosis Type 3 C; Mucopolysaccharidosis type 3C; Sanfilippo syndrome C; Sanfilippo syndrome type C; heparan-alpha-glucosaminide N-acetyltransferase deficiency; mucopolysaccharidosis type IIIC (Sanfilippo C)
primary_id: OMIM:252930
xref: GARD:7073 ; NCI:C84899 ; ORDO:79271
For additional species annotation, visit the
Alliance of Genome Resources .
G
Fnta
farnesyltransferase, CAAX box, alpha
ISO
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar
PMID:28492532
NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
G
Hgsnat
heparan-alpha-glucosaminide N-acetyltransferase
ISO
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
OMIM ClinVar
PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 PMID:18518886 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:23301227 PMID:24767253 PMID:25326635 PMID:25491247 PMID:25525159 PMID:25741868 PMID:25859010 PMID:26287674 PMID:27733599 PMID:27827379 PMID:28041643 PMID:28468868 PMID:28492532 PMID:28981474 PMID:30809705 PMID:31228227 PMID:31536183
NCBI chr16:70,876,557...70,909,443
G
LOC108348042
ankyrin repeat domain-containing protein 7-like
ISO
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar
PMID:28492532
NCBI chr17:89,772,614...89,781,812
Ensembl chr17:89,772,928...89,780,691
G
Pomk
protein-O-mannose kinase
ISO
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
ClinVar
PMID:28492532
NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all