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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:proprotein convertase 1/3 deficiency
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Accession:DOID:0111698 term browser browse the term
Definition:A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15. (DO)
Synonyms:exact_synonym: PCI deficiency;   obesity and endocrinopathy due to impaired processing of prohormones;   obesity due to prohormone convertase I deficiency;   obesity with impaired prohormone processing;   proprotein convertase 1 3 deficiency
 primary_id: MESH:C563423
 alt_id: OMIM:600955
 xref: ORDO:71528
For additional species annotation, visit the Alliance of Genome Resources.


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proprotein convertase 1/3 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO ClinVar Annotator: match by OMIM:600955
ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency
OMIM
ClinVar
PMID:9207799 PMID:14617756 PMID:17595246 PMID:22210313 PMID:23383060 PMID:23562752 PMID:24041679 PMID:24135795 PMID:24932808 PMID:25741868 PMID:26786350 PMID:27187081 PMID:28377240 PMID:28492532 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      proprotein convertase 1/3 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal dominant disease 3749
                proprotein convertase 1/3 deficiency 1
paths to the root