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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;   HUWE1-RELATED NEURODEVELOPMENTAL DISORDER;   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:3239563 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10632111 PMID:10995512 PMID:15508018 PMID:15591283 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:24327140 PMID:25167861 PMID:25326635 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 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 Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Mental retardation, X-linked, with growth retardation, deafness, and microgenitalism ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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 16123
    syndrome 7053
      syndromic X-linked intellectual disability Turner type 3
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    syndromic intellectual disability 693
                      Mental Retardation, X-Linked 669
                        syndromic X-linked intellectual disability 589
                          syndromic X-linked intellectual disability Turner type 3
paths to the root