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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:Cri-du-Chat syndrome
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Accession:DOID:12580 term browser browse the term
Definition:A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. (DO)
Synonyms:exact_synonym: 5p Minus Syndrome;   5p Minus Syndromes;   5p Syndrome;   5p deletion syndrome;   5p deletion syndromes;   5p partial monosomy syndrome;   5p- Syndromes;   Cat Cry Syndrome;   Cat Cry Syndromes;   Chromosome 5 Short Arm Deletion Syndrome;   Chromosome 5p Deletion Syndrome;   Chromosome 5p- Syndrome;   Chromosome 5p- Syndromes;   Cri-du-Chat Syndromes;   crying cat syndrome;   crying cat syndromes;   deletion of short arm of chromosome 5 syndrome
 primary_id: MESH:D003410
 alt_id: OMIM:123450
 xref: GARD:6213;   ICD10CM:Q93.4;   ICD9CM:758.31;   NCI:C34518
For additional species annotation, visit the Alliance of Genome Resources.

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Cri-du-Chat syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12629597 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,798,136...9,815,820
Ensembl chr17:9,797,907...9,816,139 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,830,326...9,834,052
Ensembl chr17:9,830,332...9,839,452 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,834,245...9,837,285
Ensembl chr17:9,834,242...9,837,303 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,837,259...9,839,464
Ensembl chr17:9,830,332...9,839,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      chromosomal deletion syndrome 879
        Cri-du-Chat syndrome 7
          Chromosome 5, Monosomy 5q35 0
          Chromosome 5, Trisomy 5p 0
          Chromosome 5, Trisomy 5pter p13 3 0
          Chromosome 5, Trisomy 5q 6
          Chromosome 5, Uniparental Disomy 0
          Monosomy 5p 0
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
                    Cri-du-Chat syndrome 7
                      Chromosome 5, Monosomy 5q35 0
                      Chromosome 5, Trisomy 5p 0
                      Chromosome 5, Trisomy 5pter p13 3 0
                      Chromosome 5, Trisomy 5q 6
                      Chromosome 5, Uniparental Disomy 0
                      Monosomy 5p 0
paths to the root