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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: Congenital Hypocupremia;   Copper Transport Disease;   Kinky Hair Disease;   Kinky Hair Syndrome;   MK;   MNK;   Menkea Syndrome;   Menkea syndromes;   Menkes Kinky Hair Syndrome;   Menkes Syndrome;   Menkes' Diseases;   Steely Hair Disease;   Steely Hair Diseases;   X-linked copper deficiency;   congenital hypocupremias;   kinky 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:17717039, PMID:18414213, PMID:18779302, PMID:19153371, PMID:19194885, PMID:19888294, 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:24002164, PMID:24033266, PMID:24627433, PMID:24919650, 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 16108
    syndrome 6992
      Menkes disease 3
        Hair Defect with Photosensitivity and Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    syndromic intellectual disability 681
                      Mental Retardation, X-Linked 659
                        Menkes disease 3
                          Hair Defect with Photosensitivity and Mental Retardation 0
paths to the root

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