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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: OMIM:252605
 xref: NCI:C129978;   ORDO:423470
For additional species annotation, visit the Alliance of Genome Resources.



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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 type III gamma OMIM
ClinVar
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 More... NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis type III gamma ClinVar NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        Metabolic Bone Diseases 389
          glycoproteinosis 9
            mucolipidosis III gamma 2
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            lysosomal storage disease 815
              lipid storage disease 653
                mucolipidosis 10
                  glycoproteinosis 9
                    mucolipidosis III gamma 2
paths to the root