About: Ehlers-Danlos syndrome, dermatosparaxis type

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About: Ehlers-Danlos syndrome, dermatosparaxis type Goto Sponge NotDistinct Permalink

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

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) хвороба людини (uk)
exact match	wds:Q55781854-19F12CA5-C62C-4EC0-B439-458B0739F446
exact match	http://www.orpha.net/ORDO/Orphanet_1901
Mondo ID	wds:Q55781854-6AB1F0B9-CC34-4795-ACB3-01BE0E73398D
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009161
Mondo ID	MONDO_0009161
rdfs:label	Ehlers-Danlos syndrome, dermatosparaxis type (en) syndrome d'Ehlers Danlos type dermato sparaxis (fr)
skos:prefLabel	Ehlers-Danlos syndrome, dermatosparaxis type (en) syndrome d'Ehlers Danlos type dermato sparaxis (fr)
name	Ehlers-Danlos syndrome, dermatosparaxis type (en) syndrome d'Ehlers Danlos type dermato sparaxis (fr)
instance of	wds:Q55781854-51E17845-1AB5-4998-85B6-7E8C75B2FF18 wds:Q55781854-9F957155-1315-4FDC-98FF-91DBFC864CA0 wds:Q55781854-F7D8657E-B479-4F48-9EFE-06B3E934A9CE
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55781854-3b079601-4c4b-0f73-7ad1-6977f0ea6b42
subclass of	Ehlers-Danlos syndrome
KEGG ID	wds:Q55781854-3741B6D7-9864-4DF9-A733-4A1EEA467A6A
KEGG ID	http://www.kegg.jp/entry/H02244
KEGG ID	H02244
UniProt disease ID	wds:Q55781854-5e71c2b8-4516-fb67-5d2f-0e6c658f8b9f
Orphanet ID	wds:Q55781854-EF46D2FF-BEC3-4DB1-8A1C-657C57FCC017
genetic association	wds:Q55781854-4B8C625A-3F6F-43A2-85DA-81FEA110754D
ICD-10-CM	wds:Q55781854-8AD390C2-2B67-407F-B3F7-53519DC7D980
GARD rare disease ID	wds:Q55781854-BB7C31EB-75E6-49D5-B579-0A62172E8E0F
OMIM ID	wds:Q55781854-1032F2A8-1881-4578-853D-3E7A174C9687
UniProt disease ID	DI-00444
Orphanet ID	1901
genetic association	ADAMTS2
ICD-10-CM	Q79.6
GARD rare disease ID	2089
OMIM ID	225410
skos:altLabel	Dermatosparaxis (en) EDS 7C (en) EDS VIIC (en) EDS7C (en) Ehlers-Danlos Syndrome, Dermatosparaxis Type (en) Ehlers-Danlos syndrome type 7C (en) EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE (en)
UMLS CUI	wds:Q55781854-2FBD327A-1127-4911-B868-C91BB6B905E0
MeSH descriptor ID	wds:Q55781854-C9130FB9-85DE-4FF6-A955-5BB8D60E9D65
ICD-11 (foundation)	wds:Q55781854-DBF5F7D9-EBA7-4835-A25E-EE3F3BB8EAFA
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567527
UMLS CUI	C2700425
MeSH descriptor ID	C567527
ICD-11 (foundation)	445808781
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55781854
is main subject of	Dermatosparaxis in children. A case report and review of the newly recognized phenotype Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis Cell-free synthesis of procollagen: L-929 fibroblasts as a cellular model for dermatosparaxis Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen. Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen. Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC) Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC) A morphologic study of a mild form of ovine dermatosparaxis Dermatosparaxis in two Limousin calves The occurrence of dermatosparaxis in a commercial Drakensberger cattle herd in South Africa Inheritance of dermatosparaxis in the calf. A genetic defect of connective tissues Dermatosparaxis (Ehlers-Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery [Dermatosparaxis in a foal and a cow--a rare disease?] Dermatosparaxis in White Dorper sheep Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep. [Boy with dermatosparaxis (Ehlers-Danlos type VIIC)] Morphometric study of cauliflower collagen fibrils in dermatosparaxis of the calves Ovine dermatosparaxis A mild form of ovine dermatosparaxis Dermatosparaxis in two White Doper lambs in Brazil: case report Heterogeneity in dermatosparaxis is shown by contraction of collagen gels Dermatosparaxis in White Dorper sheep: confirmation of a causative nonsense mutation in ADAMTS2. In silicoidentification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis Syntropy of dermatochalasis and urticaria pigmentosa as sequelae of dermatosparaxis endoplasmatica Dermatosparaxis in two white Dorper lambs [A form of dermatosparaxis in a Texel lamb]
is main subject of	wds:Q37349758-2C464EAB-4D95-4CA6-9813-739FEF4C6DFD wds:Q49154127-B2DA50B3-2A39-41B3-85B3-2901DDF8B2C0 wds:Q64052314-02068DC3-C997-45E3-AEF0-B1E636912019 wds:Q68330839-82E78D34-1E28-401D-BF5E-F93AC9993B23 wds:Q35195722-DE7ACE9C-9F4A-42D3-A025-5E58E524A122 wds:Q55063109-FA469DAC-BA09-4D9A-9255-2BCA4CE0BED6 wds:Q57828295-A9BF33F2-22AC-41BC-9F12-108D2A8DB867 wds:Q69019224-4F463B02-89C0-4706-8EA2-894DAFE25BA0 wds:Q73573703-E45F0D9B-0B5F-4899-91FE-FEA264335E0A wds:Q67482926-8603BF3A-55A6-4977-ABE7-7DB0ED2FD0A5 wds:Q28300706-9B81E343-ED9E-44DF-B1E1-CB3941168E66 wds:Q43501579-757A9BF8-C34A-437F-9C34-6E3F531F1901 wds:Q48262638-6C2B1A87-C12C-4754-9A1D-1D717E6BF526 wds:Q50789667-6AE7451D-E3F3-4CB0-AA65-C07CFA313CC8 wds:Q63383015-07043CA3-5C89-4DCA-B5E6-F10ECBA9A8B9

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