ONTOLOGY REPORT - ANNOTATIONS


Term:Menkes disease
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Accession:DOID:1838 term browser browse the term
Definition:An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
Synonyms:exact_synonym: Congenital Hypocupremia;   Congenital Hypocupremias;   Copper Transport Disease;   Kinky Hair Disease;   Kinky Hair Diseases;   Kinky Hair Syndrome;   MK;   MNK;   Menkea Syndrome;   Menkea Syndromes;   Menkes Kinky Hair Syndrome;   Menkes Syndrome;   Menkes' Diseases;   Steely Hair Disease;   Steely Hair Diseases;   Steely Hair Syndrome;   Steely Hair Syndromes;   X-Linked Copper Deficiency
 narrow_synonym: MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE;   MENKES DISEASE, MILD
 primary_id: MESH:D007706
 alt_id: OMIA:000640;   OMIM:309400;   RDO:0003501
 xref: GARD:1521
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Menkes disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:734621
RGD:8554872
RGD:12879459
RGD:11554173
RGD:11340200
RGD:11252186
RGD:11252183
RGD:11252182
RGD:7240710
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
RGD:13592920

Term paths to the root
Path 1
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  disease 14823
    syndrome 4218
      Menkes disease 4
        Hair Defect with Photosensitivity and Mental Retardation 0
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        Menkes disease 4
                          Hair Defect with Photosensitivity and Mental Retardation 0
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