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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 Cabezas type
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Accession:DOID:0060822 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. (DO)
Synonyms:exact_synonym: Cabezas X-Linked Mental Retardation Syndrome;   Cabezas syndrome;   Cabezas syndrome; syndromic X-linked mental retardation 15;   MRSS;   MRXS15;   MRXSC;   SYNDROMIC X-LINKED MENTAL RETARDATION, CABEZAS TYPE;   X-linked mental retardation with brachydactyly and macroglossia;   X-linked mental retardation with short stature;   X-linked mental retardation with short stature, hypogonadism, and abnormal gait;   X-linked mental retardation with short stature, small testes, muscle wasting, and tremor;   mental retardation, X-linked, syndromic 15 (Cabezas type);   syndromic X-linked mental retardation 15
 primary_id: MESH:C567069
 alt_id: MESH:C564527;   OMIM:300354;   RDO:0008580;   RDO:0013464;   RDO:0015247
 xref: GARD:13244;   NCI:C167216;   ORDO:85293
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul4b cullin 4B ISO ClinVar Annotator: match by OMIM:300354
ClinVar Annotator: match by term: Syndromic X-linked mental retardation, Cabezas type
ClinVar Annotator: match by term: Mental retardation, X-linked, with short stature
OMIM
ClinVar
PMID:8135271, PMID:10978355, PMID:17236139, PMID:17273978, PMID:18414213, PMID:25385192, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        Growth Disorders 325
          syndromic X-linked intellectual disability Cabezas type 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        syndromic X-linked intellectual disability 587
                          syndromic X-linked intellectual disability Cabezas type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.