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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:X-linked intellectual disability-psychosis-macroorchidism syndrome
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Accession:DOID:0060827 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: Lindsay-Burn syndrome;   MRX16;   MRX79;   MRXS13;   PPM-X;   PPMX;   X-linked mental retardation 16;   X-linked mental retardation 79;   X-linked mental retardation, syndromic 13;   X-linked mental retardation, with spasticity;   mental retardation with psychosis, pyramidal signs, and macroorchidism
 primary_id: MESH:C563139;   MESH:C564724;   MESH:C566875;   MESH:C566876;   MESH:C566877
 alt_id: OMIM:300055;   RDO:0012522;   RDO:0013589;   RDO:0015091;   RDO:0015092;   RDO:0015093
 xref: ICD10CM:F71.1;   ORDO:3077
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic 13 OMIM
ClinVar
PMID:1057790 PMID:1191367 PMID:1241840 PMID:8177735 PMID:9038338 PMID:9377804 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11807877 PMID:11885030 PMID:11896459 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12111643 PMID:12161600 PMID:12180070 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12566531 PMID:12567420 PMID:12615169 PMID:12673788 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12966523 PMID:14560307 PMID:14598336 PMID:14974082 PMID:15057977 PMID:15173251 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15558314 PMID:15689435 PMID:15737703 PMID:15866439 PMID:16077729 PMID:16080119 PMID:16122633 PMID:16183801 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16905679 PMID:16966553 PMID:17084570 PMID:17089071 PMID:17142618 PMID:17171659 PMID:17236109 PMID:17341617 PMID:17351020 PMID:17383248 PMID:17387578 PMID:17881312 PMID:17914728 PMID:17986102 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18678449 PMID:18989701 PMID:19133691 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20116947 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:21160487 PMID:21420494 PMID:21575601 PMID:21764336 PMID:21831886 PMID:21878110 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22525432 PMID:22670143 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23810759 PMID:23859859 PMID:23921973 PMID:24033266 PMID:24328834 PMID:24399845 PMID:24743294 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25634563 PMID:25741868 PMID:26175308 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26842955 PMID:26936630 PMID:27255190 PMID:27465203 PMID:27799067 PMID:27929079 PMID:28135719 PMID:28250423 PMID:28394482 PMID:28492532 PMID:29655203 PMID:29720203 PMID:30536762 PMID:30564305 PMID:30868116 PMID:32214227 PMID:32581362 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4520
        intellectual disability 2163
          Mental Retardation, X-Linked 669
            X-linked intellectual disability-psychosis-macroorchidism syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    syndromic intellectual disability 692
                      Mental Retardation, X-Linked 669
                        syndromic X-linked intellectual disability 589
                          X-linked intellectual disability-psychosis-macroorchidism syndrome 1
paths to the root