Desmosterolosis
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol
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Desmosterolosis
Summary
Desmosterolosis is a developmental defect during embryogenesis[1]. Desmosterolosis draws 2 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #134 of 308).[2]
Key Facts
- Desmosterolosis's instance of is recorded as developmental defect during embryogenesis[3].
- Desmosterolosis's instance of is recorded as rare disease[4].
- Desmosterolosis's instance of is recorded as class of disease[5].
- Desmosterolosis's subclass of is recorded as sterol biosynthesis disorder[6].
- Desmosterolosis's subclass of is recorded as neonatal osteosclerotic dysplasia[7].
- Desmosterolosis's subclass of is recorded as rare dyslipidemia[8].
- Desmosterolosis's MeSH descriptor ID is recorded as C566555[9].
- Desmosterolosis's OMIM ID is recorded as 602398[10].
- Desmosterolosis's KEGG ID is recorded as H00617[11].
- Desmosterolosis's Orphanet ID is recorded as 35107[12].
- Desmosterolosis's ICD-9-CM is recorded as 272.8[13].
- Desmosterolosis's genetic association is recorded as DHCR24[14].
- Desmosterolosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_35107[15].
- Desmosterolosis's UMLS CUI is recorded as C1865596[16].
- Desmosterolosis's ICD-10-CM is recorded as Q87.8[17].
- Desmosterolosis's GARD rare disease ID is recorded as 10283[18].
- Desmosterolosis's Mondo ID is recorded as MONDO_0011217[19].
- Desmosterolosis's Microsoft Academic ID is recorded as 2778499391[20].
- Desmosterolosis's Genetics Home Reference Conditions ID is recorded as desmosterolosis[21].
- Desmosterolosis's UniProt disease ID is recorded as DI-01482[22].
Why It Matters
Desmosterolosis draws 2 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #134 of 308).[2]