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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 has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. (DO)
Synonyms:exact_synonym: ML III gamma;   ML IIIC;   Mucolipidosis III, Complementation Group C;   Mucolipidosis III, Iranian Variant Form;   Mucolipidosis III, Variant Form;   Mucolipidosis IIIC;   mucolipidosis type III gamma
 primary_id: MESH:C565367
 alt_id: MIM:252605
 xref: 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: 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:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 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 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 14501
    Nutritional and Metabolic Diseases 6812
      disease of metabolism 6812
        Metabolic Bone Diseases 189
          glycoproteinosis 10
            mucolipidosis III gamma 2
Path 2
Term Annotations click to browse term
  disease 14501
    Developmental Disease 12602
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11795
        genetic disease 11474
          inherited metabolic disorder 5279
            lysosomal storage disease 895
              lipid storage disease 744
                mucolipidosis 67
                  glycoproteinosis 10
                    mucolipidosis III gamma 2
paths to the root