About: McKusick–Kaufman syndrome     Goto   Sponge   NotDistinct   Permalink

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McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations

AttributesValues
rdf:type
description
  • condição médica (pt)
  • McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations (en)
  • seltenes Fehlbildungssyndrom (de)
exact match
exact match
ICD-10
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
ICD-10
  • Q87.8
Mondo ID
  • MONDO_0009367
DiseasesDB
  • 33261
Disease Ontology ID
  • DOID:0111255
rdfs:label
  • McKusick-Kaufman-Syndrom (de)
  • McKusick–Kaufman syndrome (en)
  • McKusick–Kaufmanin oireyhtymä (fi)
  • Sindrome di McKusick-Kaufman (it)
  • Síndrome de McKusick-Kaufman (es)
  • Síndrome de McKusick-Kaufman (gl)
  • Síndrome de McKusick-Kaufman (pt)
  • Zespół McKusicka-Kaufmana (pl)
  • syndrome de McKusick Kaufman (fr)
  • متلازمة ماكوسيك كوفمان (ar)
skos:prefLabel
  • McKusick-Kaufman-Syndrom (de)
  • McKusick–Kaufman syndrome (en)
  • McKusick–Kaufmanin oireyhtymä (fi)
  • Sindrome di McKusick-Kaufman (it)
  • Síndrome de McKusick-Kaufman (es)
  • Síndrome de McKusick-Kaufman (gl)
  • Síndrome de McKusick-Kaufman (pt)
  • Zespół McKusicka-Kaufmana (pl)
  • syndrome de McKusick Kaufman (fr)
  • متلازمة ماكوسيك كوفمان (ar)
name
  • McKusick-Kaufman-Syndrom (de)
  • McKusick–Kaufman syndrome (en)
  • McKusick–Kaufmanin oireyhtymä (fi)
  • Sindrome di McKusick-Kaufman (it)
  • Síndrome de McKusick-Kaufman (es)
  • Síndrome de McKusick-Kaufman (gl)
  • Síndrome de McKusick-Kaufman (pt)
  • Zespół McKusicka-Kaufmana (pl)
  • syndrome de McKusick Kaufman (fr)
  • متلازمة ماكوسيك كوفمان (ar)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H02180
UniProt disease ID
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
GeneReviews ID
UniProt disease ID
  • DI-01953
Orphanet ID
  • 2473
ICD-9-CM
  • 758.89
genetic association
ICD-10-CM
  • Q87.8
GARD rare disease ID
  • 3427
OMIM ID
  • 236700
GeneReviews ID
  • NBK1502
named after
named after
skos:altLabel
  • McKusick-Kaufman syndrome (en)
  • MKKS (en)
  • HMCS (en)
  • Hydrometrocolpos Syndrome (en)
  • Hydrometrocolpos-postaxial polydactyly syndrome (en)
  • hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (en)
  • Kaufman McKusick syndrome (en)
  • Kaufman-Mckusick Syndrome (en)
  • MCKUSICK-KAUFMAN SYNDROME (en)
  • MCKUSICK-KAUFMAN SYNDROME; MKKS (en)
  • McKusick Kaufman syndrome (en)
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