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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:PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
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Accession:DOID:9004216 term browser browse the term
Definition:This disease is characterized by pre- and postnatal growth restriction, with extreme microcephaly, short stature, and absence of subcutaneous fat. There is also significant hematologic/immune dysfunction, with hypo- or agammaglobulinemia, as well as lymphopenia, anemia, and thrombocytopenia, and most affected individuals succumb to infection in early childhood.
Synonyms:exact_synonym: PDIL
 primary_id: OMIM:620005
For additional species annotation, visit the Alliance of Genome Resources.


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PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prim1 DNA primase subunit 1 ISO ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome OMIM
ClinVar		 PMID:33060134 NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        Neurologic Manifestations 10112
          sensory system disease 7132
            skin disease 4324
              Metabolic Skin Diseases 194
                lipodystrophy 194
                  PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME 1
paths to the root