About: mesomelia-synostoses syndrome

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: mesomelia-synostoses syndrome 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:Q20828586-3A7185CD-1E52-49DD-8666-181400FB57F2
exact match	http://www.orpha.net/ORDO/Orphanet_2496
Mondo ID	wds:Q20828586-4876A2FC-6808-4BF4-AEF3-6ECB4395D1E9
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010881
Mondo ID	MONDO_0010881
rdfs:label	Mesomele Dysplasie Typ Verloes-David-Pfeiffer (de) mesomelia-synostoses syndrome (en) syndrome mésomélie-synostoses (fr)
skos:prefLabel	Mesomele Dysplasie Typ Verloes-David-Pfeiffer (de) mesomelia-synostoses syndrome (en) syndrome mésomélie-synostoses (fr)
name	Mesomele Dysplasie Typ Verloes-David-Pfeiffer (de) mesomelia-synostoses syndrome (en) syndrome mésomélie-synostoses (fr)
instance of	wds:Q20828586-7A722C22-932D-4508-AA85-72AC879B6FBD wds:Q20828586-E412CF3E-D70D-4ACF-9085-F4AFF4562F1E wds:Q20828586-E5705AEC-C816-4210-8DFB-AE19A6F63954
instance of	class of disease hereditary disorder developmental defect during embryogenesis
subclass of	wds:Q20828586-9734E0FA-F273-4C6E-A920-2217589C76E2 wds:Q20828586-9fe2c7a1-453a-8f7e-b667-cd876e1fc36c wds:Q20828586-EE8F79C6-0741-458F-8086-E4657F0D4FAF
subclass of	acromesomelic dysplasia mesomelia partial deletion of the long arm of chromosome 8
Google Knowledge Graph ID	wds:Q20828586-5A0C2981-E6A3-4E45-A9E1-D44737EF156A
Google Knowledge Graph ID	http://g.co/kg/g/11b7kfqrcc
Google Knowledge Graph ID	/g/11b7kfqrcc
Orphanet ID	wds:Q20828586-f848efc6-4b2b-38eb-ccee-22ed8778dd78
ICD-10-CM	wds:Q20828586-23E2B395-1802-46FE-A3BC-B04AFC8F4A31
GARD rare disease ID	wds:Q20828586-A919BB29-328E-42DE-9EAF-8DC676A9D08E
OMIM ID	wds:Q20828586-dcff61b3-4029-638e-e8a2-69d195273417
Orphanet ID	2496
ICD-10-CM	Q74.8
GARD rare disease ID	4302
OMIM ID	600383
skos:altLabel	Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis (en) 8q13 microdeletion syndrome (en) Chromosome 8Q13 Deletion Syndrome (en) Del(8)q(13) (en) Mesomelia synostoses (en) Mesomelia-synostoses syndrome (en) Mesomelic Dysplasia, Syndromic (en) Monosomy 8q13 (en) Verloes-David syndrome (en) Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type (en) Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type (en)
UMLS CUI	wds:Q20828586-A3CAB76B-CADF-4937-BD04-E82E1D4A82BB
MeSH descriptor ID	wds:Q20828586-9FFB294F-3E8A-4893-AF33-6E5599E7F3D3
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537348
UMLS CUI	C1838162
MeSH descriptor ID	C537348
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q20828586 https://de.wikipedia.org/wiki/Mesomele_Dysplasie_Typ_Verloes-David-Pfeiffer
is main subject of	Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene
is main subject of	wds:Q33960453-D580A6CC-FB1C-4EE1-94C8-C0CE5E92CCE8 wds:Q64042607-E784DFD1-C808-4CE9-9E38-5ACD2D349DBF

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 183 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software