loading...| Preferred Name | McKusick-Kaufman syndrome | |
| Synonyms |
hydrometrocolpos-postaxial polydactyly syndrome hydrometrocolpos, postaxial polydactyly, and congenital heart malformation HMCS Kaufman McKusick syndrome MKKS hydrometrocolpos syndrome |
|
| Definitions |
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111255 |
|
| alternative label |
hydrometrocolpos-postaxial polydactyly syndrome hydrometrocolpos, postaxial polydactyly, and congenital heart malformation HMCS Kaufman McKusick syndrome MKKS hydrometrocolpos syndrome |
|
| database_cross_reference |
OMIM:236700 MEDDRA:10052312 UMLS_CUI:C0948368 SNOMEDCT_US_2023_03_01:702407009 MESH:C538159 GARD:3427 ORDO:2473 |
|
| definition |
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. |
|
| has exact synonym |
hydrometrocolpos-postaxial polydactyly syndrome hydrometrocolpos, postaxial polydactyly, and congenital heart malformation HMCS Kaufman McKusick syndrome MKKS hydrometrocolpos syndrome |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111255 |
|
| in_subset | ||
| label |
McKusick-Kaufman syndrome |
|
| notation |
DOID:0111255 |
|
| note |
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. |
|
| preferred label |
McKusick-Kaufman syndrome |
|
| prefLabel |
McKusick-Kaufman syndrome |
|
| subClassOf |