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ONTOLOGY REPORT - ANNOTATIONS


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
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proprotein convertase 1/3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcsk1 proprotein convertase subtilisin/kexin type 1 JBrowse link 2 91,450,162 91,497,091 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15849
    syndrome 6057
      proprotein convertase 1/3 deficiency 1
Path 2
Term Annotations click to browse term
  disease 15849
    Developmental Diseases 9271
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8086
        genetic disease 7599
          monogenic disease 5250
            autosomal genetic disease 4214
              autosomal dominant disease 2599
                proprotein convertase 1/3 deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.