loading...| Preferred Name |
Wolf-Hirschhorn Syndrome |
|
| Synonyms |
Wolf Syndrome |
|
| Definitions |
A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054877 |
|
| altLabel |
Wolf Syndrome Syndrome, Wolf-Hirschhorn Pitt Syndromes 4p Deletion Syndrome Chromosome 4p Deletion Syndrome 4p- Syndrome Pitt-Rogers-Danks Syndrome 4p Syndrome, Chromosome Chromosome 4p Syndromes Wolf-Hirchhorn Syndrome Pitt Syndrome Del(4p) Syndrome Syndrome, Pitt-Rogers-Danks Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation Syndromes, Chromosome 4p Chromosome 4p Syndrome Wolf Hirchhorn Syndrome Syndrome, Wolf Syndrome, Chromosome 4p Pitt Rogers Danks Syndrome Syndrome, Pitt Wolf Hirschhorn Syndrome Partial Monosomy 4p 4p Syndromes, Chromosome Syndromes, Pitt Chromosome 4p Monosomy Syndrome, Wolf-Hirchhorn |
|
| 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 |
C0796117 C1956097 |
|
| DC |
1 |
|
| definition |
A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16. A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS. |
|
| DX |
20080101 |
|
| HN |
2008 |
|
| 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 |
|
| Machine permutation |
2008 |
|
| MDA |
20070709 |
|
| MMR |
20130708 |
|
| MN |
C16.320.180.985 C16.131.260.985 C16.131.077.944 |
|
| notation |
D054877 |
|
| prefLabel |
Wolf-Hirschhorn Syndrome |
|
| TERMUI |
T695184 T842707 T839375 T842708 T812503 T839376 T708880 T842710 T812504 T842706 T695185 T842711 T842709 |
|
| TH |
OMIM (2013) NLM (2008) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |