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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: 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 OMIM:252605
ClinVar Annotator: match by term: Mucolipidosis type III gamma
ClinVar Annotator: match by term: Mucolipidosis III Gamma
ClinVar
OMIM
PMID:10712439, PMID:15060128, PMID:19370764, PMID:19659762, PMID:20034096, PMID:20147709, PMID:20301784, PMID:21792934, PMID:23430803, PMID:24033266, PMID:24123366, PMID:24316125, PMID:24767253, PMID:25182519, PMID:25741868, PMID:26130485, PMID:26935170, PMID:27038293, PMID:27243974, PMID:27884173, PMID:27896079, PMID:28492532, PMID:29170090, PMID:29704188 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Gamma ClinVar NCBI chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        Metabolic Bone Diseases 375
          glycoproteinosis 8
            mucolipidosis III gamma 2
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            lysosomal storage disease 527
              lipid storage disease 467
                mucolipidosis 9
                  glycoproteinosis 8
                    mucolipidosis III gamma 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.