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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: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: Copper Transport Disease;   Kinky Hair Disease;   Kinky Hair Syndrome;   MK;   MNK;   Menkea Syndrome;   Menkea syndromes;   Menkes Kinky Hair Syndrome;   Menkes Syndrome;   Menkes' diseases;   X-linked copper deficiency;   congenital hypocupremia;   congenital hypocupremias;   kinky hair diseases;   steely hair disease;   steely hair diseases;   steely hair syndrome;   steely hair syndromes
 narrow_synonym: MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE;   MENKES DISEASE, MILD
 primary_id: MESH:D007706
 alt_id: OMIA:000640;   OMIM:309400
 xref: GARD:1521;   NCI:C75486;   ORDO:565
For additional species annotation, visit the Alliance of Genome Resources.

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Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:
ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive
ClinVar Annotator: match by term: Menkes disease, mild
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons, introns:p.G876delX2 (human)
DNA:mutations:multiple (human)
DNA:deletion:cds:p.A799_L800del (mouse)
DNA:snp:intron:c.4268+3A>T (human)
ClinVar Annotator: match by OMIM:309400		 ClinVar
CTD
OMIM		 PMID:7842019 PMID:7977350 PMID:8812725 PMID:8981948 PMID:9246006 PMID:9894833 PMID:10319589 PMID:10570920 PMID:10739752 PMID:11092760 PMID:11157799 PMID:11241493 PMID:11350187 PMID:12221109 PMID:12228238 PMID:12676902 PMID:14579150 PMID:14635105 PMID:15372525 PMID:15923132 PMID:16083905 PMID:16435190 PMID:16824500 PMID:16826513 PMID:17003121 PMID:17009961 PMID:17108763 PMID:17483305 PMID:17496194 PMID:18414213 PMID:18779302 PMID:19153371 PMID:19194885 PMID:20045993 PMID:20170900 PMID:20301586 PMID:20652413 PMID:20831904 PMID:21208200 PMID:21242307 PMID:21494555 PMID:21667063 PMID:22130675 PMID:22210628 PMID:22455587 PMID:22664332 PMID:22695177 PMID:22728746 PMID:22815746 PMID:22981378 PMID:23064757 PMID:23281160 PMID:24033266 PMID:24627433 PMID:25003971 PMID:25247420 PMID:25741868 PMID:26117549 PMID:26199316 PMID:28119449 PMID:28251916 PMID:28451781 PMID:28492532 PMID:30311386 PMID:31319225 PMID:32005694, PMID:10739752, PMID:22074552, PMID:20497190, PMID:21208200, PMID:9215672, PMID:7842019 RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853 		JBrowse link
G Lox lysyl oxidase ISO
ISS		 OMIM:309400 MouseDO PMID:8638917 RGD:1581895 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Menkes disease 3
        Hair Defect with Photosensitivity and Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        Menkes disease 3
                          Hair Defect with Photosensitivity and Mental Retardation 0
paths to the root