About: osteogenesis imperfecta type 4

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

About: osteogenesis imperfecta type 4 Goto Sponge NotDistinct Permalink

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

An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (en)
exact match	wds:Q27677739-FBD68989-AEFF-4C8E-9255-3443216F120A wds:Q27677739-FDC36958-D0A4-43A3-B072-3BA944C0CE19
exact match	http://purl.obolibrary.org/obo/DOID_0110340 http://identifiers.org/doid/DOID:0110340
health specialty	wds:Q27677739-E33B0F5A-1679-44EE-A82B-A1A5967307A3
Mondo ID	wds:Q27677739-6945C28A-7AFD-4CE3-8BF7-BC89D88CDDAA
Disease Ontology ID	wds:Q27677739-13BA4EB4-7A6E-4FA7-B659-ADD75D369DC3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008148
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110340
health specialty	medical genetics
Mondo ID	MONDO_0008148
Disease Ontology ID	DOID:0110340
rdfs:label	osteogenesis imperfecta type 4 (en)
skos:prefLabel	osteogenesis imperfecta type 4 (en)
name	osteogenesis imperfecta type 4 (en)
instance of	wds:Q27677739-2DF30C09-74FC-4871-B370-A3A9371D1DC8 wds:Q27677739-B42780A8-7837-46C0-A058-73E6DE0AF41D
instance of	class of disease rare disease
subclass of	wds:Q27677739-3600FD91-0BCA-4DCD-96DC-32AB507602EC wds:Q27677739-A72DD7EC-14DD-46A5-AC2B-1B76E066B67B wds:Q27677739-B62C7738-11EC-465B-82AF-A078F94C24C8
subclass of	osteogenesis imperfecta genetic disease autosomal dominant disease
UniProt disease ID	wds:Q27677739-cc9c6fdf-423f-0fe2-7ee0-ffc95d9a4bce
Orphanet ID	wds:Q27677739-c07c2f18-45fb-12e3-78e1-b13de6e752f7
genetic association	wds:Q27677739-1B410D25-5093-4298-A71D-E649ECA56318 wds:Q27677739-FE3D36BB-32DF-496B-BF8F-7FC2EF7CBC01
ICD-10-CM	wds:Q27677739-98ED4346-F4FD-4FE8-9AF3-AC6C187858DA
GARD rare disease ID	wds:Q27677739-67551E19-DC1E-401D-9A72-16D059DC0CC6
OMIM ID	wds:Q27677739-A7EB1DA6-7AA1-4F07-B741-E9C08C1724EF
UniProt disease ID	DI-02103
Orphanet ID	216820
genetic association	COL1A2 COL1A1
ICD-10-CM	Q78.0
GARD rare disease ID	8696
OMIM ID	166220
skos:altLabel	OI4 (en) osteogenesis imperfecta type IV (en) osteogenesis imperfecta with normal sclera (en)
NCI Thesaurus ID	wds:Q27677739-3b4cccb3-4c31-5e1b-7735-77f64b842b20
on focus list of Wikimedia project	wds:Q27677739-FFEC45CE-1AF1-4565-8BAA-7FD98BDAE499
NCI Thesaurus ID	C98576
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q27677739
is main subject of	Supracondylar femur fracture repair using IlluminOss in a patient with Osteogenesis Imperfecta type 4
is main subject of	wds:Q89033669-10115BC1-3A45-432F-B8B0-91CD5A0FEAFC
is established from medical condition of	GM17410 GM17952 GM17960 GM16794 GM16851 GM16852 GM16853 GM16854 GM16972 GM17425 GM17426 GM17505 GM17506 GM17517 GM17518 GM17521 GM17522 GM17596 GM17597 GM17947 GM17955 GM16923 GM16963 GM16964 GM17413 GM17414 GM17427 GM17428 GM17578 GM17579 GM17588 GM17589 GM17948 GM17956 WG0220 GM16924 GM16925 GM16969 GM16970 GM17586 GM17587 GM17598 GM17599 GM17604 GM17605 GM17944

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, 188 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software