About: connective tissue disorder due to lysyl hydroxylase-3 deficiency

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About: connective tissue disorder due to lysyl hydroxylase-3 deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
exact match	wds:Q55783900-0E9FAA65-3BAA-4426-94D2-17F12BD37C40
exact match	http://www.orpha.net/ORDO/Orphanet_300284
Mondo ID	wds:Q55783900-671C011D-8A07-49DE-83B7-E460614B48B9
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012892
Mondo ID	MONDO_0012892
rdfs:label	connective tissue disorder due to lysyl hydroxylase-3 deficiency (en) vezivnotkivna motnja zaradi pomanjkanja lizil hidroksilaze-3 (sl)
skos:prefLabel	connective tissue disorder due to lysyl hydroxylase-3 deficiency (en) vezivnotkivna motnja zaradi pomanjkanja lizil hidroksilaze-3 (sl)
name	connective tissue disorder due to lysyl hydroxylase-3 deficiency (en) vezivnotkivna motnja zaradi pomanjkanja lizil hidroksilaze-3 (sl)
instance of	wds:Q55783900-11A785C9-D776-44D6-9639-93BA3CA57598 wds:Q55783900-15261406-6089-44E7-BA26-39CED03D49C5 wds:Q55783900-2358BE1D-287E-419F-9F9B-0678E3B87171 wds:Q55783900-D8F70B7E-1150-4FFB-A00E-8687C35AE787
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q55783900-6D26FCC5-7C6D-48BA-B72E-A727EA4672AB wds:Q55783900-C1BACFB6-C9A9-45A5-9CE3-A337EEB47AB8 wds:Q55783900-C398D635-88EE-4015-A160-BE900E5CEF84 wds:Q55783900-D11DC721-3EF0-462E-A4F4-986486B6835F
subclass of	genetic systemic or rheumatologic disease systemic disease syndromic genetic deafness rare developmental defect with connective tissue involvement
KEGG ID	wds:Q55783900-0739C8A9-DD19-4EDF-92B4-C4C45322B6CC
KEGG ID	http://www.kegg.jp/entry/H01192
KEGG ID	H01192
UniProt disease ID	wds:Q55783900-dddff6a3-4879-b8af-3dfd-fbece541eeb2
Orphanet ID	wds:Q55783900-7CFDE7F6-1ADC-4803-9B79-6D646B93BAEE
genetic association	wds:Q55783900-F71DA6B4-B082-4186-93E6-C27A0D97F133
OMIM ID	wds:Q55783900-D695E88D-E553-4FA1-A1EB-23B6E6532684
UniProt disease ID	DI-01923
Orphanet ID	300284
genetic association	PLOD3
OMIM ID	612394
skos:altLabel	Connective tissue disorder due to LH3 deficiency (en) Lh3 Deficiency (en) Lysyl Hydroxylase 3 Deficiency (en) BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (en) Bone fragility-contractures-arterial rupture-deafness syndrome (en)
UMLS CUI	wds:Q55783900-51F86DD1-62E8-4C93-9519-857A99B71274 wds:Q55783900-850407E4-272A-4121-B120-8B76D4300590
MeSH descriptor ID	wds:Q55783900-D8E12D65-A4B6-4BC6-92BA-D45990FFE811
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567320
UMLS CUI	C2676285 C4706393
MeSH descriptor ID	C567320
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783900
is genetic association of	PLOD3
is genetic association of	wds:Q18033607-33D53501-1CCC-47F3-BAEA-374BD57ACDEF

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