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X-linked intellectual disability-psychosis-macroorchidism syndrome - Ontology Report - Rat Genome Database

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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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16;   Lindsay-Burn syndrome;   MRX16;   MRX79;   MRXS13;   PPM-X;   PPMX;   Ppm-X Syndrome;   X-linked mental retardation 16;   X-linked mental retardation 79;   X-linked mental retardation, with spasticity;   mental retardation with psychosis, pyramidal signs, and macroorchidism;   syndromic X-linked intellectual developmental disorder 13;   syndromic X-linked mental retardation 13
 primary_id: MESH:C563139;   MESH:C564724;   MESH:C566876;   MESH:C566877
 alt_id: DOID:9006524;   MIM:300055
 xref: ICD10CM:F71.1;   ORDO:3077

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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 N Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624909:2,316,749...2,370,097
Ensembl chrNW_004624909:2,316,431...2,370,179 		JBrowse link
G G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:50,554,648...50,609,437
Ensembl chr  X:50,556,168...50,583,010 		JBrowse link
G P FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:47,191,838...47,231,656
Ensembl chr  X:47,192,427...47,231,342 		JBrowse link
G S Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936751:1,355,606...1,397,282
Ensembl chrNW_004936751:1,351,795...1,397,288 		JBrowse link
G D FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:46,194,950...46,239,291
Ensembl chr  X:46,194,735...46,270,701 		JBrowse link
G B FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:46,648,765...46,699,444
Ensembl chr  X:54,880,513...54,930,672 		JBrowse link
G C Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710 		JBrowse link
G R Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:20,023,746...20,066,566 		JBrowse link
G M Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:149,829,141...149,872,682
Ensembl chr  X:149,829,146...149,872,517 		JBrowse link
G H FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G H LOC130068854 ATAC-STARR-seq lymphoblastoid silent region 21085 IAGP ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome ClinVar NCBI chr  X:154,097,643...154,098,002 JBrowse link
G N Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
G P MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G S Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G D MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G B MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G C Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G R Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G M Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G H MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13
ClinVar Annotator: match by term: PPM-X syndrome
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome		 ClinVar
OMIM		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      X-linked intellectual disability-psychosis-macroorchidism syndrome 21
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              developmental disorder of mental health 63917
                specific developmental disorder 50074
                  intellectual disability 45595
                    X-Linked Intellectual Developmental Disorders 8427
                      syndromic X-linked intellectual disability 11710
                        X-linked intellectual disability-psychosis-macroorchidism syndrome 21
paths to the root