Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Silver-Russell syndrome

Synonyms

Silver-Russell dwarfism

Definitions

Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.

ID

http://www.orpha.net/ORDO/Orphanet_813

alternative_term

Silver-Russell dwarfism

definition

Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813

has_age_of_onset

Antenatal

Neonatal

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

ICD-10:Q87.1

OMIM:180860

UMLS:C0175693

MedDRA:10062282

OMIM:616489

OMIM:312780

ICD-11:LD2F.1Y

MeSH:D056730

label

Silver-Russell syndrome

notation

ORPHA:813

part_of

http://www.orpha.net/ORDO/Orphanet_519296

http://www.orpha.net/ORDO/Orphanet_183422

http://www.orpha.net/ORDO/Orphanet_641343

http://www.orpha.net/ORDO/Orphanet_183570

http://www.orpha.net/ORDO/Orphanet_139021

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

prefixIRI

ORDO:Orphanet_813

prefLabel

Silver-Russell syndrome

present_in

Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000

Europe AND has_annual_incidence_average_value : 15.5 AND has_annual_incidence_range : 1-5 / 10 000

United Kingdom AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_range : 1-9 / 1 000 000

United Kingdom AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_519296

http://www.orpha.net/ORDO/Orphanet_183422

http://www.orpha.net/ORDO/Orphanet_641343

http://www.orpha.net/ORDO/Orphanet_183570

http://www.orpha.net/ORDO/Orphanet_139021

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_813 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_14681 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008394 EFO 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://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
http://www.gamuts.net/entity#Silver_Russell_syndrome GAMUTS REST