Cri-du-Chat Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D003410


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-).

Instance info

Synonyms

5p- Syndromes, Chromosome, Syndrome, Cri-du-Chat, Cri-du-Chat Syndromes, 5p Minus Syndrome, Cri-du-chat-Syndrom (DE), Crying Cat Syndrome, Chromosome 5p- Syndrome, Crying Cat Syndromes, Minus Syndrome, 5p, Syndrome, 5p-, Deletion Syndrome, 5p, Minus Syndromes, 5p, Syndrome, Crying Cat, Deletion of Short Arm of Chromosome 5 Syndrome, Syndromes, Chromosome 5p-, Cat Cry Syndrome, Chromosome 5 Short Arm Deletion Syndrome, Syndromes, Cri-du-Chat, Syndromes, Cat Cry, 5p Minus Syndromes, Cri du Chat Syndrome, Syndrome, 5p Minus, Chromosome 5p Deletion Syndrome, Deletion Syndromes, 5p, Syndrome, Cat Cry, 5p Deletion Syndromes, 5p Syndrome, 5p- Syndromes, Chromosom-5p-Syndrom (DE), 5p- Syndrome, Chromosome, Katzenschreisyndrom (DE), 5p- Syndrome, Syndromes, 5p Minus, Cat Cry Syndromes, Syndromes, Crying Cat, 5p-Deletionssyndrom (DE), 5p Deletion Syndrome, Syndromes, 5p Deletion, Syndrome, Chromosome 5p-, Chromosome 5p- Syndromes, Syndrome, 5p Deletion

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19660101

FX

D008607

HN

1977; use CRYING CAT SYNDROME 1964-1976

MDA

19990101

MMR

20180630

MN

C16.131.077.262,C10.597.606.360.180,C16.320.180.190,C16.131.260.190

PM

1977; see CRYING CAT SYNDROME 1964-1976

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D008607

SIB

http://purl.bioontology.org/ontology/MESH/D000073839,http://purl.bioontology.org/ontology/MESH/D058502,http://purl.bioontology.org/ontology/MESH/D015211,http://purl.bioontology.org/ontology/MESH/D011218,http://purl.bioontology.org/ontology/MESH/D025064,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D014849,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D011535,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D004314,http://purl.bioontology.org/ontology/MESH/D054975,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D016878,http://purl.bioontology.org/ontology/MESH/D017204,http://purl.bioontology.org/ontology/MESH/D059446,http://purl.bioontology.org/ontology/MESH/D000073842,http://purl.bioontology.org/ontology/MESH/D016715,http://purl.bioontology.org/ontology/MESH/D001478,http://purl.bioontology.org/ontology/MESH/D020331,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D054000,http://purl.bioontology.org/ontology/MESH/D018980,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D007690,http://purl.bioontology.org/ontology/MESH/D058165,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D007849,http://purl.bioontology.org/ontology/MESH/D054877,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056733,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D001506,http://purl.bioontology.org/ontology/MESH/D019280,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D019082,http://purl.bioontology.org/ontology/MESH/D012410,http://purl.bioontology.org/ontology/MESH/D058495,http://purl.bioontology.org/ontology/MESH/D058496,http://purl.bioontology.org/ontology/MESH/D058497,http://purl.bioontology.org/ontology/MESH/D017624,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D012415,http://purl.bioontology.org/ontology/MESH/D005736,http://purl.bioontology.org/ontology/MESH/D054868,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D044542,http://purl.bioontology.org/ontology/MESH/D001816,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D054062,http://purl.bioontology.org/ontology/MESH/D003635

TERMUI

T369567,T369568,T751630,T369565,T369566,T369564,T816821,T009918,T009917,T811472

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (2000),NLM (2010),UNK (19XX),NLM (1964)

cui

C0010314

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C537649,http://purl.bioontology.org/ontology/MESH/C538482,http://purl.bioontology.org/ontology/MESH/C537648,http://purl.bioontology.org/ontology/MESH/C537647,http://purl.bioontology.org/ontology/MESH/C537762,http://purl.bioontology.org/ontology/MESH/C537650

tui

T047

Instance relations

Types