Schwartz-Jampel syndrome 1
autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36
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Schwartz-Jampel syndrome 1
Summary
Schwartz-Jampel syndrome 1 is a developmental defect during embryogenesis[1]. It ranks in the top 7% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (461 views/month).[2]
Key Facts
- Schwartz-Jampel syndrome 1's instance of is recorded as developmental defect during embryogenesis[3].
- Schwartz-Jampel syndrome 1's instance of is recorded as designated intractable/rare disease[4].
- Schwartz-Jampel syndrome 1's instance of is recorded as rare disease[5].
- Schwartz-Jampel syndrome 1's instance of is recorded as class of disease[6].
- Schwartz-Jampel syndrome 1 is a type of osteochondrodysplasia[7].
- Schwartz-Jampel syndrome 1 is a type of autosomal recessive disease[8].
- Schwartz-Jampel syndrome 1 is a type of perlecan-related bone disorder[9].
- Schwartz-Jampel syndrome 1 is a type of qualitative or quantitative defects of perlecan[10].
- Schwartz-Jampel syndrome 1 is a type of myotonia congenita[11].
- Schwartz-Jampel syndrome 1 is a type of progressive muscular dystrophy[12].
- Schwartz-Jampel syndrome 1 is a type of syndromic myopia[13].
- Schwartz-Jampel syndrome 1 is a type of syndrome[14].
- Schwartz-Jampel syndrome 1's Commons category is recorded as Schwartz–Jampel syndrome[15].
- Schwartz-Jampel syndrome 1's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/3957[16].
- Schwartz-Jampel syndrome 1's ICD-9-CM is recorded as 759.89[17].
- Schwartz-Jampel syndrome 1's NCI Thesaurus ID is recorded as C35008[18].
- Schwartz-Jampel syndrome 1's health specialty is recorded as neurology[19].
- Schwartz-Jampel syndrome 1's genetic association is recorded as HSPG2[20].
- Schwartz-Jampel syndrome 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090005[21].
- Schwartz-Jampel syndrome 1's exact match is recorded as http://identifiers.org/doid/DOID:0090005[22].
- Schwartz-Jampel syndrome 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_800[23].
- Schwartz-Jampel syndrome 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
Why It Matters
Schwartz-Jampel syndrome 1 ranks in the top 7% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (461 views/month).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[25] It is known by 26 alternative names across languages and contexts.[26]