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ONTOLOGY REPORT - ANNOTATIONS


Term:combined saposin deficiency
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Accession:DOID:0111330 term browser browse the term
Definition:A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1. (DO)
Synonyms:exact_synonym: COMBINED SAP DEFICIENCY;   PSAPD;   Prosaposin Deficiency;   encephalopathy due to prosaposin deficiency
 primary_id: MESH:C567125
 alt_id: DOID:9004179;   OMIM:611721;   RDO:0015284
 xref: ORDO:139406
For additional species annotation, visit the Alliance of Genome Resources.


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combined saposin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        neurodegenerative disease 2936
          demyelinating disease 394
            Hereditary Central Nervous System Demyelinating Diseases 39
              metachromatic leukodystrophy 7
                combined saposin deficiency 2
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      nervous system disease 10221
        central nervous system disease 8352
          brain disease 7703
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                Lysosomal Storage Diseases, Nervous System 62
                  sphingolipidosis 46
                    Sulfatidosis 9
                      metachromatic leukodystrophy 7
                        combined saposin deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.