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mucolipidosis III gamma - Ontology Report - Rat Genome Database

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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:mucolipidosis III gamma
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Accession:DOID:0080678 term browser browse the term
Definition:A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. (DO)
Synonyms:exact_synonym: ML III gamma;   ML IIIC;   Mucolipidosis III, Complementation Group C;   Mucolipidosis III, Iranian Variant Form;   Mucolipidosis IIIC;   mucolipidosis type III gamma
 broad_synonym: GNPTG-related condition
 related_synonym: mucolipidosis III, variant form
 xref: MESH:C565367;   MIM:252605;   MONDO:0009652;   NCI:C129978;   ORDO:423470

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mucolipidosis III gamma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: GNPTG-related condition | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma OMIM
ClinVar		 PMID:3634453 PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 More... NCBI chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM ClinVar PMID:25741868 NCBI chrNW_004936694:2,492,102...2,529,662
Ensembl chrNW_004936694:2,492,102...2,527,305 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        Metabolic Bone Diseases 193
          glycoproteinosis 11
            mucolipidosis III gamma 2
Path 2
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          inherited metabolic disorder 5611
            lysosomal storage disease 935
              lipid storage disease 757
                mucolipidosis 68
                  glycoproteinosis 11
                    mucolipidosis III gamma 2
paths to the root