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 (280 views/month).[2]
Key Facts
- Schwartz-Jampel syndrome 1's image is recorded as Schwartz Jampel syndrome OMIM 255800.jpg[3].
- Schwartz-Jampel syndrome 1's instance of is recorded as developmental defect during embryogenesis[4].
- Schwartz-Jampel syndrome 1's instance of is recorded as designated intractable/rare disease[5].
- Schwartz-Jampel syndrome 1's instance of is recorded as rare disease[6].
- Schwartz-Jampel syndrome 1's instance of is recorded as class of disease[7].
- Schwartz-Jampel syndrome 1's subclass of is recorded as osteochondrodysplasia[8].
- Schwartz-Jampel syndrome 1's subclass of is recorded as autosomal recessive disease[9].
- Schwartz-Jampel syndrome 1's subclass of is recorded as perlecan-related bone disorder[10].
- Schwartz-Jampel syndrome 1's subclass of is recorded as qualitative or quantitative defects of perlecan[11].
- Schwartz-Jampel syndrome 1's subclass of is recorded as myotonia congenita[12].
- Schwartz-Jampel syndrome 1's subclass of is recorded as progressive muscular dystrophy[13].
- Schwartz-Jampel syndrome 1's subclass of is recorded as syndromic myopia[14].
- Schwartz-Jampel syndrome 1's subclass of is recorded as syndrome[15].
- Schwartz-Jampel syndrome 1's Commons category is recorded as Schwartz–Jampel syndrome[16].
- Schwartz-Jampel syndrome 1's OMIM ID is recorded as 255800[17].
- Schwartz-Jampel syndrome 1's Freebase ID is recorded as /m/0_s6hxx[18].
- Schwartz-Jampel syndrome 1's KEGG ID is recorded as H01777[19].
- Schwartz-Jampel syndrome 1's Disease Ontology ID is recorded as DOID:0090005[20].
- Schwartz-Jampel syndrome 1's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/3957[21].
- Schwartz-Jampel syndrome 1's Orphanet ID is recorded as 800[22].
- Schwartz-Jampel syndrome 1's ICD-9-CM is recorded as 759.89[23].
- Schwartz-Jampel syndrome 1's NCI Thesaurus ID is recorded as C35008[24].
- Schwartz-Jampel syndrome 1's health specialty is recorded as neurology[25].
- Schwartz-Jampel syndrome 1's genetic association is recorded as HSPG2[26].
- Schwartz-Jampel syndrome 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090005[27].
Why It Matters
Schwartz-Jampel syndrome 1 ranks in the top 7% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (280 views/month).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[28] It is known by 26 alternative names across languages and contexts.[29]