ONTOLOGY REPORT - ANNOTATIONS


Term:inclusion-cell disease
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Accession:DOID:0080070 term browser browse the term
Synonyms:exact_synonym: I-cell disease;   I-cell diseases;   ICD;   ML II;   ML II alpha/beta;   inclusion cell diseases;   mcolipidosis II alpha/beta;   mucolipidosis 2;   mucolipidosis II;   mucolipidosis II alpha/beta;   mucolipidosis type II;   type II mucolipidoses
 primary_id: MESH:C538602;   MESH:C567100;   OMIM:252500
 alt_id: RDO:0004528;   RDO:0008382;   RDO:0015272
 xref: GARD:6749
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inclusion-cell disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Multiple Abnormalities 1276
            inclusion-cell disease 2
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            lipid metabolism disorder 721
              lipid storage disease 343
                mucolipidosis 11
                  glycoproteinosis 10
                    inclusion-cell disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.