Joubert syndrome
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones
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Joubert syndrome
Summary
Joubert syndrome is a designated intractable/rare disease[1]. It draws 170 Wikipedia views per month (designated_intractable_rare_disease category, ranking #98 of 201).[2]
Key Facts
- Joubert syndrome's instance of is recorded as designated intractable/rare disease[3].
- Joubert syndrome's instance of is recorded as rare disease[4].
- Joubert syndrome's instance of is recorded as class of disease[5].
- Marie Joubert is named after Joubert syndrome[6].
- Joubert syndrome's subclass of is recorded as ciliopathy[7].
- Joubert syndrome's subclass of is recorded as autosomal recessive[8].
- Joubert syndrome's subclass of is recorded as Joubert syndrome and related disorders[9].
- Joubert syndrome's subclass of is recorded as encephalopathy[10].
- Joubert syndrome's Commons category is recorded as Joubert syndrome[11].
- Joubert syndrome's OMIM ID is recorded as 213300[12].
- Joubert syndrome's ICD-9 ID is recorded as 742.2[13].
- Joubert syndrome's DiseasesDB is recorded as 30688[14].
- Joubert syndrome's Freebase ID is recorded as /m/0fm08[15].
- Joubert syndrome's KEGG ID is recorded as H00530[16].
- Joubert syndrome's Disease Ontology ID is recorded as DOID:0050777[17].
- Joubert syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4552[18].
- Joubert syndrome's Orphanet ID is recorded as 475[19].
- Joubert syndrome's NCI Thesaurus ID is recorded as C74996[20].
- Joubert syndrome's health specialty is recorded as medical genetics[21].
- Joubert syndrome's genetic association is recorded as TMEM231[22].
- Joubert syndrome's genetic association is recorded as MKS1[23].
- Joubert syndrome's genetic association is recorded as B9D1[24].
- Joubert syndrome's genetic association is recorded as CEP104[25].
- Joubert syndrome's genetic association is recorded as KIAA0586[26].
- Joubert syndrome's genetic association is recorded as CSPP1[27].
Why It Matters
Joubert syndrome draws 170 Wikipedia views per month (designated_intractable_rare_disease category, ranking #98 of 201).[2] It has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[28] It is known by 21 alternative names across languages and contexts.[29]