ZFIN Human Disease: McKusick-Kaufman syndrome

OBO ID: DOID:0111255

Term Name:	McKusick-Kaufman syndrome		Search Ontology:
Synonyms:	HMCS hydrometrocolpos syndrome hydrometrocolpos, postaxial polydactyly, and congenital heart malformation hydrometrocolpos-postaxial polydactyly syndrome Kaufman McKusick syndrome MKKS
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. (2)
References:	GARD:3427 MEDDRA:10052312 MESH:C538159 OMIM:236700 ORDO:2473 SNOMEDCT_US_2023_03_01:702407009 UMLS_CUI:C0948368
Ontology:	Human Disease ( DOID:0111255 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER McKusick-Kaufman syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MKKS	mkks	McKusick-Kaufman syndrome	236700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None