Experimental Factor Ontology

Last uploaded: April 15, 2024

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Preferred Name	Silver-Russell syndrome
Synonyms	Silver Russell dwarfism Russell-Silver Syndrome SRS Silver-Russell syndrome Russell-Silver dwarfism Silver-Russell dwarfism Silver Russell syndrome Russell Silver syndrome Russell-Silver syndrome
Definitions	Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.
ID	http://purl.obolibrary.org/obo/MONDO_0008394
closeMatch	http://identifiers.org/meddra/10062282
database_cross_reference	MedDRA:10062282 UMLS:C0175693 MESH:D056730 SCTID:15069006 OMIMPS:180860 NORD:1683 Orphanet:813 NCIT:C85068 ICD9:759.89 DOID:14681 GARD:4870
definition	Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.
exactMatch	http://linkedlifedata.com/resource/umls/id/C0175693 http://purl.obolibrary.org/obo/Orphanet_813 http://purl.obolibrary.org/obo/DOID_14681 http://identifiers.org/snomedct/15069006 https://omim.org/phenotypicSeries/PS180860 http://purl.obolibrary.org/obo/NCIT_C85068 http://identifiers.org/mesh/D056730
has_exact_synonym	Silver Russell dwarfism Russell-Silver Syndrome SRS Silver-Russell syndrome Russell-Silver dwarfism Silver-Russell dwarfism Silver Russell syndrome Russell Silver syndrome Russell-Silver syndrome
id	MONDO:0008394
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare
label	Silver-Russell syndrome
notation	MONDO:0008394
preferred label	Silver-Russell syndrome
prefLabel	Silver-Russell syndrome
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000508 http://purl.obolibrary.org/obo/MONDO_0019040 http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0015160

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008394	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008394	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_14681	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0008394	MONDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_584	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.855	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062282	MEDDRA	LOOM
http://purl.obolibrary.org/obo/OMIM_180860	CCO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.870	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.870	RH-MESH	LOOM
http://identifiers.org/omim/180860	REXO	LOOM
http://identifiers.org/omim/180860	GEXO	LOOM
http://identifiers.org/omim/180860	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_14681	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_14681	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_14681	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_14681	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_14681	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_14681	FNS-H	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14681	NATPRO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15309	DERMLEX	LOOM
http://www.orpha.net/ORDO/Orphanet_813	ORDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Silver-Russell_Syndrome	CSEO	LOOM
http://purl.obolibrary.org/obo/OMIT_0026699	OMIT	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039951	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.937	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056730	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906040762515928	IOBC	LOOM
http://www.gamuts.net/entity#Silver_Russell_syndrome	GAMUTS	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.925	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0008394	DOVES	LOOM
http://purl.bioontology.org/ontology/MESH/D056730	MESH	LOOM
http://id.nlm.nih.gov/mesh/D056730	MDM	LOOM
http://purl.obolibrary.org/obo/DOID_14681	DOID	LOOM