About: Desmosterolosis

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Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol

Attributes	Values
rdf:type	Item
description	Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol (en)
exact match	wds:Q5264836-26A685F2-FA4B-4A17-88C6-CF01E689D014
exact match	http://www.orpha.net/ORDO/Orphanet_35107
Mondo ID	wds:Q5264836-2E880252-1562-48E5-A8BB-8E9C04A97D45
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011217
Mondo ID	MONDO_0011217
rdfs:label	Desmosterolosis (en) desmostérolose (fr)
skos:prefLabel	Desmosterolosis (en) desmostérolose (fr)
name	Desmosterolosis (en) desmostérolose (fr)
instance of	wds:Q5264836-0B168B98-AC8B-4319-B33E-5FBA0CF1261E wds:Q5264836-21069D4E-8AA0-41FA-89C4-1FFF51FD59F4 wds:Q5264836-960BD4CB-6FC6-4AB2-AA30-1C7E3CD3689D
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q5264836-8AFBD264-216C-4D63-8B08-7FFFD758A8EF wds:Q5264836-EE4C8EBA-4438-4E76-A943-479A52D42286 wds:Q5264836-F78E298F-B837-4E5B-861B-AC78831BEB6B
subclass of	rare dyslipidemia sterol biosynthesis disorder neonatal osteosclerotic dysplasia
KEGG ID	wds:Q5264836-CC6B9251-E386-4004-A1B0-BE7FCDCB76A7
KEGG ID	http://www.kegg.jp/entry/H00617
KEGG ID	H00617
UniProt disease ID	wds:Q5264836-d40620ff-458a-7de0-3d12-49c047e82222
Orphanet ID	wds:Q5264836-6eb45ecc-4127-d581-bead-4404776b226a
ICD-9-CM	wds:Q5264836-726B2E6F-5D0C-4D79-BBD9-0169655E5CED
genetic association	wds:Q5264836-EA9D5228-848F-44DC-970D-6717D762CDD9
ICD-10-CM	wds:Q5264836-A82A0EFC-E98E-40D4-AE8F-4BD368486F80
GARD rare disease ID	wds:Q5264836-A9EF643A-A319-4D48-BBE5-30DBA8415A75
OMIM ID	wds:q5264836-F49D2F57-D061-400C-B26E-6D61399DC1D0
Genetics Home Reference Conditions ID	wds:Q5264836-D3A041D2-C859-488D-B077-B3CA9632657E
UniProt disease ID	DI-01482
Orphanet ID	35107
ICD-9-CM	272.8
genetic association	DHCR24
ICD-10-CM	Q87.8
GARD rare disease ID	10283
OMIM ID	602398
Genetics Home Reference Conditions ID	desmosterolosis
skos:altLabel	DESMOSTEROLOSIS (en)
UMLS CUI	wds:Q5264836-8D1D11CB-B572-4D15-A296-275B6BA899A5
MeSH descriptor ID	wds:Q5264836-36A64A59-7CD2-4A22-B85C-301F8A512922
Microsoft Academic ID	wds:Q5264836-55DD6305-FA81-476E-A967-F6CA7A39E7A9
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C566555
Microsoft Academic ID	https://makg.org/entity/2778499391
UMLS CUI	C1865596
MeSH descriptor ID	C566555
Microsoft Academic ID	2778499391
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q5264836 Desmosterolosis
is main subject of	Clinical phenotype of desmosterolosis Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis Clinical phenotype of desmosterolosis The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter Desmosterolosis: a new inborn error of cholesterol biosynthesis Desmosterolosis and desmosterol homeostasis in the developing mouse brain Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders Desmosterolosis presenting with multiple congenital anomalies.
is main subject of	wds:Q35230116-5AC05B19-60BE-4C69-BDD3-52F695A8719A wds:Q92494756-E09A9675-1E7E-4332-B142-B6C585B570DE wds:Q64446158-7E895DF9-B996-4F1C-8726-09FCE27886E3 wds:Q24291608-4050CE26-384D-4FF4-874E-D5951142140F wds:Q24322551-4A37641E-F51B-48CC-A38C-1C62E6E7814D wds:Q34454735-EEC93B48-C435-4B8D-9DC8-39BC9B53BCE5 wds:Q33751200-F47D0CD9-F532-4F4F-862D-2E17146EE9AE wds:Q49631842-661E41DF-AEA4-4A40-85C7-5F5AF1535B56 wds:Q71264474-4CF4ACAF-9943-408C-A7B4-BD9DF9B91C86 wds:Q42715529-EFF2E7AB-89DF-497A-B087-DC5C91B348F1
is genetic association of	DHCR24
is genetic association of	wds:Q14599604-AFCB0F3C-44DF-43B0-A6BA-5F1BBD3D5946

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