loading...| Preferred Name | McKusick Kaufman syndrome | |
| Synonyms |
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Mckusick-Kaufman Syndrome Kaufman McKusick syndrome Kaufman-Mckusick Syndrome Hydrometrocolpos syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C538159 |
|
| altLabel |
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Mckusick-Kaufman Syndrome Kaufman McKusick syndrome Kaufman-Mckusick Syndrome Hydrometrocolpos syndrome |
|
| cui |
C0948368 |
|
| HM |
D014591 D000015 D052202 D017689 D006330 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D017689 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D052202 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
29 |
|
| MMR |
20150818 |
|
| notation |
C538159 |
|
| prefLabel |
McKusick Kaufman syndrome |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal recessive disorder characterized by genitourinary malformations, especially hydrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations. Mutations in the MKKS gene have been identified. OMIM: 236700 |
|
| TERMUI |
T802351 T744919 T744922 T802352 T744923 T744920 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |