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.
Attributes | Values |
---|
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
| |
DiseasesDB
| |
ICPC 2 ID
| |
Disease Ontology ID
| |
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
| |
instance of
| |
instance of
| |
subclass of
| |