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Term:Cri-du-Chat syndrome
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Accession:DOID:12580 term browser browse the term
Definition:An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Synonyms:exact_synonym: 5p Deletion Syndromes;   5p Minus Syndrome;   5p Minus Syndromes;   5p Syndrome;   5p deletion syndrome;   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;   RDO:0003524
 xref: GARD:6213
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Cri-du-Chat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      chromosomal deletion syndrome 324
        Cri-du-Chat syndrome 1
          Chromosome 5, Monosomy 5q35 0
          Chromosome 5, Trisomy 5p 0
          Chromosome 5, Trisomy 5pter p13 3 0
          Chromosome 5, Trisomy 5q 0
          Chromosome 5, Uniparental Disomy 0
          Monosomy 5p 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Cri-du-Chat syndrome 1
                      Chromosome 5, Monosomy 5q35 0
                      Chromosome 5, Trisomy 5p 0
                      Chromosome 5, Trisomy 5pter p13 3 0
                      Chromosome 5, Trisomy 5q 0
                      Chromosome 5, Uniparental Disomy 0
                      Monosomy 5p 0
paths to the root