loading...| Preferred Name |
Cri-du-Chat Syndrome |
|
| Synonyms |
Syndrome, 5p Deletion |
|
| Definitions |
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-). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D003410 |
|
| altLabel |
Syndrome, 5p Deletion Minus Syndrome, 5p 5p Minus Syndromes 5p- Syndromes, Chromosome Syndrome, 5p- 5p Deletion Syndromes Chromosome 5 Short Arm Deletion Syndrome 5p- Syndrome Chromosome 5p- Syndrome Cri-du-Chat Syndromes Cat Cry Syndromes Syndromes, Cri-du-Chat Syndrome, 5p Minus Syndrome, Chromosome 5p- Crying Cat Syndromes Syndromes, Chromosome 5p- 5p Syndrome Chromosome 5p- Syndromes Syndromes, 5p Minus Deletion Syndrome, 5p Minus Syndromes, 5p Crying Cat Syndrome 5p Deletion Syndrome Deletion Syndromes, 5p Syndrome, Cat Cry 5p- Syndrome, Chromosome Syndrome, Crying Cat Syndrome, Cri-du-Chat Syndromes, Crying Cat Cat Cry Syndrome Chromosome 5p Deletion Syndrome 5p Minus Syndrome Syndromes, 5p Deletion Syndromes, Cat Cry Deletion of Short Arm of Chromosome 5 Syndrome Cri du Chat Syndrome 5p- Syndromes |
|
| 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 |
|
| cui |
C0010314 |
|
| DC |
1 |
|
| 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-). |
|
| DX |
19660101 |
|
| FX |
D008607 |
|
| HN |
1977; use CRYING CAT SYNDROME 1964-1976 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1977; see CRYING CAT SYNDROME 1964-1976 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537762 http://purl.bioontology.org/ontology/MESH/C537649 http://purl.bioontology.org/ontology/MESH/C537647 http://purl.bioontology.org/ontology/MESH/C537648 |
|
| MDA |
19990101 |
|
| MMR |
20180630 |
|
| MN |
C16.131.077.262 C16.131.260.190 C10.597.606.360.180 C16.320.180.190 |
|
| notation |
D003410 |
|
| prefLabel |
Cri-du-Chat Syndrome |
|
| TERMUI |
T811472 T751630 T009917 T369565 T369566 T369564 T009918 T816821 T369567 T369568 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) NLM (2010) GHR (2014) NLM (1964) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D000015 |