cerebrotendinous xanthomatosis
autosomal recessive form of xanthomatosis.
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cerebrotendinous xanthomatosis
Summary
cerebrotendinous xanthomatosis is a developmental defect during embryogenesis[1]. It draws 88 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #83 of 308).[2]
Key Facts
- cerebrotendinous xanthomatosis's instance of is recorded as developmental defect during embryogenesis[3].
- cerebrotendinous xanthomatosis's instance of is recorded as designated intractable/rare disease[4].
- cerebrotendinous xanthomatosis's instance of is recorded as rare disease[5].
- cerebrotendinous xanthomatosis's instance of is recorded as class of disease[6].
- cerebrotendinous xanthomatosis is a type of xanthomatosis[7].
- cerebrotendinous xanthomatosis is a type of autosomal recessive metabolic cerebellar ataxia[8].
- cerebrotendinous xanthomatosis is a type of neurometabolic disease[9].
- cerebrotendinous xanthomatosis is a type of subcutaneous tissue disease[10].
- cerebrotendinous xanthomatosis is a type of rare hereditary metabolic disease with peripheral neuropathy[11].
- cerebrotendinous xanthomatosis is a type of cerebral lipidosis[12].
- cerebrotendinous xanthomatosis is a type of metabolic disease with cataract[13].
- cerebrotendinous xanthomatosis is a type of sterol metabolism disorder with epilepsy[14].
- cerebrotendinous xanthomatosis is a type of developmental anomaly of metabolic origin[15].
- cerebrotendinous xanthomatosis is a type of bile acid synthesis defect with cholestasis and malabsorption[16].
- cerebrotendinous xanthomatosis is a type of syndromic dyslipidemia[17].
- cerebrotendinous xanthomatosis is a type of rare genetic subcutaneous tissue disorder[18].
- cerebrotendinous xanthomatosis is a type of disease[19].
- cerebrotendinous xanthomatosis's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4618[20].
- cerebrotendinous xanthomatosis's NCI Thesaurus ID is recorded as C84628[21].
- cerebrotendinous xanthomatosis's health specialty is recorded as medical genetics[22].
- cerebrotendinous xanthomatosis's health specialty is recorded as endocrinology[23].
- cerebrotendinous xanthomatosis's genetic association is recorded as CYP27A1[24].
- cerebrotendinous xanthomatosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_4810[25].
- cerebrotendinous xanthomatosis's exact match is recorded as http://identifiers.org/doid/DOID:4810[26].
- cerebrotendinous xanthomatosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_909[27].
Why It Matters
cerebrotendinous xanthomatosis draws 88 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #83 of 308).[2] It has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[28] It is known by 19 alternative names across languages and contexts.[29]