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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 II alpha/beta
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Accession:DOID:0080070 term browser browse the term
Definition:A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. (DO)
Synonyms:exact_synonym: I-cell disease;   I-cell diseases;   ICD;   ML II;   ML II alpha/beta;   inclusion cell diseases;   inclusion-cell disease;   mcolipidosis II alpha/beta;   mucolipidosis 2;   mucolipidosis II;   mucolipidosis type II;   type II mucolipidoses
 broad_synonym: GNPTAB-RELATED DISORDER
 primary_id: MESH:C538602;   MESH:C567100
 alt_id: MIM:252500
 xref: GARD:6749;   NCI:C61270


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mucolipidosis II alpha/beta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO
ISS 		OMIM:252500
ClinVar Annotator: match by term: Mucolipidosis type II 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7895
          Multiple Abnormalities 3849
            mucolipidosis II alpha/beta 1
Path 2
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6627
            lipid metabolism disorder 1900
              lipid storage disease 854
                mucolipidosis 71
                  glycoproteinosis 11
                    mucolipidosis II alpha/beta 1
paths to the root