About: Miller–Dieker lissencephaly syndrome     Goto   Sponge   NotDistinct   Permalink

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A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.

AttributesValues
rdf:type
description
  • maladie génétique (fr)
  • homa genetika malsano (eo)
  • genetisch bedingte Krankheit (de)
  • malattia genetica umana (it)
  • A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. (en)
  • kalıtsal mikrosefali türü (tr)
  • Нарушение развития мозга (ru)
exact match
exact match
health specialty
Mondo ID
DiseasesDB
ICPC 2 ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0009532
DiseasesDB
  • 29494
ICPC 2 ID
  • N85
Disease Ontology ID
  • DOID:0060469
rdfs:label
  • Miller-Dieker sendromu (tr)
  • Miller-Dieker-Syndrom (de)
  • Miller-Diker Sindromu (az)
  • Miller–Dieker lissencephaly syndrome (en)
  • Miller–Dieker syndrome (en-ca)
  • Miller–Dieker syndrome (en-gb)
  • Miller–Diekerin oireyhtymä (fi)
  • Miller–Diekerov sindrom (bs)
  • Syndrome de Miller-Dieker (fr)
  • Syndroom van Miller-Dieker (nl)
  • Síndrome de Miller-Dieker (es)
  • Síndrome de Miller-Dieker (pt)
  • Síndrome de Miller-Dieker (pt-br)
  • Zespół Millera-Diekera (pl)
  • miller dieker (zh-hk)
  • sindrome di Miller-Dieker (it)
  • sindromo de Miller-Dieker (eo)
  • Синдром лиссэнцефалии Миллера — Дикера (ru)
  • মিলার-ডাইকার সিন্ড্রোম (bn)
  • متلازمة ميلر-دياكر (ar)
  • ミラー・ディーカー症候群 (ja)
skos:prefLabel
  • Miller-Dieker sendromu (tr)
  • Miller-Dieker-Syndrom (de)
  • Miller-Diker Sindromu (az)
  • Miller–Dieker lissencephaly syndrome (en)
  • Miller–Dieker syndrome (en-ca)
  • Miller–Dieker syndrome (en-gb)
  • Miller–Diekerin oireyhtymä (fi)
  • Miller–Diekerov sindrom (bs)
  • Syndrome de Miller-Dieker (fr)
  • Syndroom van Miller-Dieker (nl)
  • Síndrome de Miller-Dieker (es)
  • Síndrome de Miller-Dieker (pt)
  • Síndrome de Miller-Dieker (pt-br)
  • Zespół Millera-Diekera (pl)
  • miller dieker (zh-hk)
  • sindrome di Miller-Dieker (it)
  • sindromo de Miller-Dieker (eo)
  • Синдром лиссэнцефалии Миллера — Дикера (ru)
  • মিলার-ডাইকার সিন্ড্রোম (bn)
  • متلازمة ميلر-دياكر (ar)
  • ミラー・ディーカー症候群 (ja)
name
  • Miller-Dieker sendromu (tr)
  • Miller-Dieker-Syndrom (de)
  • Miller-Diker Sindromu (az)
  • Miller–Dieker lissencephaly syndrome (en)
  • Miller–Dieker syndrome (en-ca)
  • Miller–Dieker syndrome (en-gb)
  • Miller–Diekerin oireyhtymä (fi)
  • Miller–Diekerov sindrom (bs)
  • Syndrome de Miller-Dieker (fr)
  • Syndroom van Miller-Dieker (nl)
  • Síndrome de Miller-Dieker (es)
  • Síndrome de Miller-Dieker (pt)
  • Síndrome de Miller-Dieker (pt-br)
  • Zespół Millera-Diekera (pl)
  • miller dieker (zh-hk)
  • sindrome di Miller-Dieker (it)
  • sindromo de Miller-Dieker (eo)
  • Синдром лиссэнцефалии Миллера — Дикера (ru)
  • মিলার-ডাইকার সিন্ড্রোম (bn)
  • متلازمة ميلر-دياكر (ar)
  • ミラー・ディーカー症候群 (ja)
Freebase ID
Freebase ID
  • /m/03m9cz
instance of
instance of
subclass of
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