loading...| Preferred Name |
Williams Syndrome |
|
| Synonyms |
Williams Contiguous Gene Syndrome |
|
| Definitions |
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D018980 |
|
| altLabel |
Williams Contiguous Gene Syndrome Syndrome, Williams-Beuren Hypercalcemia Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis Syndrome Hypercalcemia-Supravalvar Aortic Stenosis Contiguous Gene Syndrome, Williams Syndrome, Beuren Aortic Stenoses, Hypercalcemia-Supravalvar Stenoses, Hypercalcemia-Supravalvar Aortic Williams Beuren Syndrome Aortic Stenosis, Hypercalcemia-Supravalvar Williams-Beuren Syndrome Chromosome 7q11.23 Deletion Syndrome Stenosis, Hypercalcemia-Supravalvar Aortic Beuren Syndrome Syndrome, Williams Hypercalcemia-Supravalvar Aortic Stenoses |
|
| AN |
do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency |
|
| 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 |
C0175702 |
|
| DC |
1 |
|
| definition |
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. |
|
| DX |
19960101 |
|
| FX |
D004549 D008607 |
|
| HN |
96 |
|
| 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 |
96 |
|
| Mapped from | ||
| MDA |
19950524 |
|
| MMR |
20200228 |
|
| MN |
C16.131.260.970 C10.597.606.360.970 C14.280.484.048.750.535.960 C16.320.180.970 |
|
| notation |
D018980 |
|
| prefLabel |
Williams Syndrome |
|
| TERMUI |
T812078 T056591 T369868 T369869 T842688 T842690 T842692 T056590 |
|
| TH |
NLM (1996) OMIM (2013) NLM (2000) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D008607 |