About: asphyxiating thoracic dystrophy 3

Not logged in : Login

(Sponging disallowed)

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: asphyxiating thoracic dystrophy 3 Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	asphyxiating thoracic dystrophy autosomal recessive disease nodeID://b50942489
label	asphyxiating thoracic dystrophy 3 (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110087
database_cross_reference	ICD10CM:Q77.2 OMIM:613091
has_exact_synonym	ATD3 (en) SRPS1 (en) SRPS2B (en) SRPS3 (en) SRTD3 (en) Saldino-Noonan syndrome (en) Verma-Naumoff syndrome (en) polydactyly with neonatal chondrodystrophy, type I (en) short rib-polydactyly syndrome, type I (en) short rib-polydactyly syndrome, type IIB (en) short-rib thoracic dysplasia 3 with or without polydactyly (en) polydactyly with neonatal chondrodystrophy, type III (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942490

Faceted Search & Find service v1.17_git149 as of Dec 03 2024

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 17 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software