About: schneckenbecken dysplasia

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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	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q18553466-320A5D11-7924-4869-B084-73F99401330E wds:Q18553466-7177AE02-14EE-41B8-9A35-920959E4EE2D wds:Q18553466-B3DBB8DC-5AA7-4F03-84AB-C78D5F48B849
exact match	http://purl.obolibrary.org/obo/DOID_0050775 http://identifiers.org/doid/DOID:0050775 http://www.orpha.net/ORDO/Orphanet_3144
Mondo ID	wds:Q18553466-1F82C0B7-D83F-4A6E-AF4C-E2766C68265F
Disease Ontology ID	wds:Q18553466-F84C12A7-AAFF-4247-AFF5-09FA2E6B209B
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010013
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050775
Mondo ID	MONDO_0010013
Disease Ontology ID	DOID:0050775
rdfs:label	Schneckenbecken-Dysplasie (de) dysplasie Schneckenbecken (fr) schneckenbecken dysplasia (en)
skos:prefLabel	Schneckenbecken-Dysplasie (de) dysplasie Schneckenbecken (fr) schneckenbecken dysplasia (en)
name	Schneckenbecken-Dysplasie (de) dysplasie Schneckenbecken (fr) schneckenbecken dysplasia (en)
instance of	wds:Q18553466-79D5F534-5C5B-47AB-8FFD-FCAC996901D6 wds:Q18553466-85FC818F-B4C7-4593-9419-6A329D7F740C wds:Q18553466-946AFF06-E2D7-4B6F-B46B-11BF1357E5B3
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q18553466-72D03B33-92E1-45B0-B3B5-AAA67EAC5A01 wds:Q18553466-9B4218ED-61A4-45B9-AA38-234A6545C523 wds:Q18553466-C161C0F2-3203-48CF-A0AB-CBAD239B3C9D wds:Q18553466-D8F40B80-E881-419C-A1C3-C957386FB42C
subclass of	multiple epiphyseal dysplasia Spondylodysplastic dysplasia congenital disorder of glycosylation-related bone disorder disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
KEGG ID	wds:Q18553466-02CC4733-F5C6-4F23-83ED-C6449D81EB23
KEGG ID	http://www.kegg.jp/entry/H00474
KEGG ID	H00474
UniProt disease ID	wds:Q18553466-3aec7686-4251-e59e-ead4-436170a70e5f
Orphanet ID	wds:Q18553466-47536953-49fb-81a0-ff4c-a5507585429e
ICD-9-CM	wds:Q18553466-819720B3-0793-47AB-ACFE-2E11B0B63123
genetic association	wds:Q18553466-D4752D95-E749-4D5A-831B-C3CAF56D236D
ICD-10-CM	wds:Q18553466-99825FC5-CE76-4DB6-9FA8-302B11E5EC7D
GARD rare disease ID	wds:Q18553466-D9927B94-5464-44B9-89D2-80710ACA7D2A
OMIM ID	wds:Q18553466-9B06885B-CA3C-4C2F-9B6D-D4737C14BEE2
UniProt disease ID	DI-02286
Orphanet ID	3144
ICD-9-CM	756.9
genetic association	SLC35D1
ICD-10-CM	Q77.7
GARD rare disease ID	169
OMIM ID	269250
skos:altLabel	Chondrodysplasia lethal neonatal with snail like pelvis (en) Chondrodysplasie avec bassin en escargot (fr) SLC35D1-CDG (en) Schneckenbecken dysplasia (en) chondrodysplasia with snail-like pelvis (en) Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis (en)
UMLS CUI	wds:Q18553466-72138DBB-40D1-41CF-BA10-67C5D1F818C5
MeSH descriptor ID	wds:Q18553466-09544630-4aa9-9772-d864-03a4c53aa866 wds:Q18553466-2F0B28FC-A7B0-4B4B-BDE4-FBC558FE0AC8
on focus list of Wikimedia project	wds:Q18553466-1BEB7179-62E6-4879-9C49-77172B8F3BDB
ICD-11 (foundation)	wds:Q18553466-bb721a3d-4377-93b6-f7ce-4c388867bca8
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536637
UMLS CUI	C0432194
MeSH descriptor ID	C536637
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 (foundation)	584032448
is owl:sameAs of	schneckenbecken dysplasia schneckenbecken dysplasia
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553466 Schneckenbecken dysplasia https://de.wikipedia.org/wiki/Schneckenbecken-Dysplasie
is main subject of	A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia Case report 693: Schneckenbecken dysplasia Schneckenbecken dysplasia, radiology, and histology Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases Schneckenbecken dysplasia in fetus: report of four cases A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Case report 870. Schneckenbecken dysplasia, possibly a new variant
is main subject of	wds:Q67785926-61539949-055E-4AC4-BEEA-40C1821EA5D5 wds:Q73494909-39CD21C2-B5DE-4E7F-81F0-E2CF59865980 wds:Q46532416-630A37BB-00D2-4F80-B4D8-B03207DECE8B wds:Q57971913-2B90AB92-5675-43C0-BEEF-263E4010E575 wds:Q34088162-D88388C9-E23C-48B0-9E97-3E2AF90AF3A1 wds:Q52941747-3867EC29-FFC0-40E1-90BA-F58754E23FFB wds:Q72417607-CC115BE3-A311-4035-B137-A31E2A0FE068
is genetic association of	SLC35D1
is genetic association of	wds:Q18036962-EFE3C99D-7FE4-4257-9F9E-5CC781C393A5

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