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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:Miles-Carpenter syndrome
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Accession:DOID:0060815 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)
Synonyms:exact_synonym: Contractures of feet, muscle atrophy, and oculomotor apraxia;   MCS;   MRXS4;   Miles-Carpenter X-linked mental retardation syndrome;   WRWF;   Wieacker-Wolff syndrome;   Wieacker-Wolff syndrome (spectrum);   X-linked intellectual disability, Miles-Carpenter type;   X-linked mental retardation with congenital contractures and low fingertip arches;   ZC4H2-RELATED X-LINKED INTELLECTUAL DISABILITY;   oculomotor apraxia, with congenital contractures and muscle atrophy;   syndromic X-linked mental retardation 4
 primary_id: MESH:C536703
 alt_id: OMIM:314580
 xref: MONDO:0025445;   OMIM:PS314580;   ORDO:85283


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Miles-Carpenter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Miles-Carpenter syndrome 2
        WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  communication disorder 404
                    agnosia 71
                      apraxia 30
                        Miles-Carpenter syndrome 2
                          WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED 2
paths to the root