Medical Subject Headings

Last uploaded: August 28, 2024
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

http://purl.bioontology.org/ontology/MESH/D006330

http://purl.bioontology.org/ontology/MESH/D014591

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

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