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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:PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
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Accession:DOID:9000051 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death.
Synonyms:exact_synonym: PAICSD
 primary_id: OMIM:619859
For additional species annotation, visit the Alliance of Genome Resources.



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PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase ISO ClinVar Annotator: match by term: Phosphoribosylaminoimidazole carboxylase deficiency ClinVar
OMIM
PMID:31600779 NCBI chr14:31,199,086...31,232,731
Ensembl chr14:31,173,541...31,232,635
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        Congenital Abnormalities 6764
          Multiple Abnormalities 3120
            PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY 1
paths to the root