About: Lenz–Majewski syndrome

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Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis

Attributes	Values
rdf:type	Item
description	Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis (en) malattia rarissima della pelle (it) sehr seltene angeborene Krankheit (de)
exact match	wds:Q6523462-7C0FC690-DEE4-4AEB-8AF4-0964BBE9D589
exact match	http://www.orpha.net/ORDO/Orphanet_2658
Mondo ID	wds:Q6523462-C966A405-98AF-4BFC-909D-A8E55B68FBFF
DiseasesDB	wds:q6523462-911368B2-B55C-4402-99F8-133B7CAFDEAF
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007892
Mondo ID	MONDO_0007892
DiseasesDB	32264
rdfs:label	Lenz-Majewski-Syndrom (de) Lenz–Majewski syndrome (en) Sindrome di Lenz-Majewski (it) nanisme de Lenz-Majewski (fr) синдром Ленца-Маевского (ru)
skos:prefLabel	Lenz-Majewski-Syndrom (de) Lenz–Majewski syndrome (en) Sindrome di Lenz-Majewski (it) nanisme de Lenz-Majewski (fr) синдром Ленца-Маевского (ru)
name	Lenz-Majewski-Syndrom (de) Lenz–Majewski syndrome (en) Sindrome di Lenz-Majewski (it) nanisme de Lenz-Majewski (fr) синдром Ленца-Маевского (ru)
instance of	wds:Q6523462-3440E081-0594-4BF8-B458-90E2B27C7EF3 wds:Q6523462-921259D2-5ABE-4581-8A3F-43B31DFFCCE9 wds:Q6523462-AA86E785-3402-4BE6-BAE3-FDE035575D60
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q6523462-5D104C51-7850-47B1-9573-2053195BBD55 wds:Q6523462-8095b620-4a68-003b-47fd-72d57c9e412d wds:Q6523462-8D728137-ACAB-4547-9C97-3711F91F0807 wds:Q6523462-D3ED2730-971B-4AD0-A755-DE0CD17A2497
subclass of	dwarfism primary bone dysplasia with increased bone density multiple congenital anomalies/dysmorphic syndrome-intellectual disability genetic syndromic intellectual disability
KEGG ID	wds:Q6523462-0C9A663D-755D-4E6A-B2EA-5E63C19039DF
KEGG ID	http://www.kegg.jp/entry/H01832
KEGG ID	H01832
UniProt disease ID	wds:Q6523462-78ab5457-4858-bfbd-7c15-3a4ed5ab7234
Orphanet ID	wds:Q6523462-cd33c061-4205-991c-ae6f-ca91aa05e4cf
genetic association	wds:Q6523462-9DA2D932-2998-4A58-815B-CD1352F8331C
ICD-10-CM	wds:Q6523462-938176B3-5EE0-48B3-BF80-F73F9017968E
GARD rare disease ID	wds:Q6523462-1CAEBA8D-BA11-40D2-B763-8C32B2E1DA2B
OMIM ID	wds:q6523462-9CB13DCD-653A-4453-A649-6CAB60A9591F
UniProt disease ID	DI-04022
Orphanet ID	2658
genetic association	PTDSS1
ICD-10-CM	Q87.1
GARD rare disease ID	3223
OMIM ID	151050
skos:altLabel	Hyperostotic dwarfism Lenz-Majewski type (en) Hyperostotischer Kleinwuchs Typ Lenz-Majewski (de) LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (en) LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD (en) LMHD (en) Lenz Majewski hyperostotic dwarfism (en) Lenz-Majewski Syndrome (en) Lenz-Majewski hyperostotic dysplasia (en) Nanismo iperostotico (it) Multiple congenital anomalies, mental retardation and progressive skeletal sclerosis (en) синдром Маевского (ru)
UMLS CUI	wds:Q6523462-F6DD2897-A1C4-472B-A6CC-5006C21001B6
MeSH descriptor ID	wds:Q6523462-29d5c5f7-47ff-e030-e877-d58d2843167d
Microsoft Academic ID	wds:Q6523462-248F1E1E-891C-435B-8161-6368795B1BC2
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537115
Microsoft Academic ID	https://makg.org/entity/2779477153
UMLS CUI	C0432269
MeSH descriptor ID	C537115
Microsoft Academic ID	2779477153
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q6523462 Lenz–Majewski syndrome https://de.wikipedia.org/wiki/Lenz-Majewski-Syndrom https://it.wikipedia.org/wiki/Sindrome_di_Lenz-Majewski
is main subject of	Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1. Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism Lenz-Majewski syndrome in a patient from Egypt
is main subject of	wds:Q43418659-A3D14CC2-D32A-4965-ADDE-133FCE56011C wds:Q64928872-DFD8C2F1-842F-437B-85FF-103F074F7B89 wds:Q80195839-2C9CBE8F-02E1-492C-A0F0-687519B0194B wds:Q73651858-5EDE4E2A-1241-4927-9CD8-86CE1E663977 wds:Q51974769-2B93B52F-B796-41A3-AC1F-C399D8038A7B wds:Q64048794-D39C8576-2550-42F2-B45F-C89FDFC3B046 wds:Q34657511-EC1FA7AA-EBDB-4115-ABFF-DEF5C66E1A8D wds:Q38539164-78D819DE-1E59-4A02-83C2-07F371C10B66 wds:Q92558966-2F3AE379-84E8-4D2A-B44B-34059C3F916A
is genetic association of	PTDSS1
is genetic association of	wds:Q18034678-C76A41F8-B1AE-4642-A0A8-12045ABFD099

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