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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 CONDITION;   JMS;   Juberg-Marsidi mental retardation syndrome;   Juberg-Marsidi syndrome;   MRXS-Turner;   MRXSBWB;   MRXST;   X-linked intellectual developmental disorder, Turner type;   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 intellectual developmental disorder, Turner type;   syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type;   syndromic X-linked mental retardation, Turner type
 broad_synonym: HUWE1-RELATED NEURODEVELOPMENTAL DISORDER;   HUWE1-related disorder
 primary_id: MESH:C563154;   MESH:C567476
 alt_id: DOID:0060829;   OMIM:300612;   OMIM:309590
 xref: ORDO:3056;   ORDO:85328



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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 Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6107045 PMID:7943042 PMID:7943044 PMID:16700052 PMID:18252223 More... NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      syndromic X-linked intellectual disability Turner type 4
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            disease of mental health 8327
              developmental disorder of mental health 5559
                specific developmental disorder 4525
                  intellectual disability 4306
                    X-Linked Intellectual Developmental Disorders 810
                      syndromic X-linked intellectual disability 618
                        syndromic X-linked intellectual disability Turner type 4
paths to the root