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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:syndromic X-linked intellectual disability Turner type
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Accession:DOID:0060811 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO)
Synonyms:exact_synonym: Brooks-Wisniewski-Brown syndrome;   JMS;   Juberg-Marsidi mental retardation syndrome;   Juberg-Marsidi syndrome;   MRXS-Turner;   MRXSBWB;   MRXST;   X-linked intellectual disability, Brooks type;   X-linked mental retardation with growth delay, deafness, microgenitalism;   X-linked mental retardation with growth retardation, deafness, and microgenitalism;   mental retardation and macrocephaly syndrome;   syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type;   syndromic X-linked mental retardation, Turner type
 primary_id: MESH:C563154;   MESH:C567476
 alt_id: DOID:0060829;   OMIM:300612;   OMIM:309590
 xref: ORDO:3056;   ORDO:85328
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Mental retardation, X-linked, with growth retardation, deafness, and microgenitalism ClinVar PMID:9326931, PMID:16955409, PMID:20500465, PMID:24327140, PMID:25741868, PMID:28492532 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by OMIM:300706
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, turner type
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Turner type
ClinVar Annotator: match by term: MENTAL RETARDATION AND MACROCEPHALY SYNDROME
ClinVar
OMIM
PMID:6107045, PMID:7943042, PMID:7943044, PMID:16700052, PMID:18252223, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25741869, PMID:25985138, PMID:27130160, PMID:27884935, PMID:28492532, PMID:29180823, PMID:29651030, PMID:30797980 NCBI chr  X:21,474,627...21,603,348
Ensembl chr  X:21,499,934...21,598,876
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      syndromic X-linked intellectual disability Turner type 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        syndromic X-linked intellectual disability 585
                          syndromic X-linked intellectual disability Turner type 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.