Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

Silver-Russell syndrome

Synonyms

Silver Russell Dwarfism

Definitions

A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. OMIM mapping confirmed by DO. [LS].

ID

http://purl.obolibrary.org/obo/DOID_14681

comment

OMIM mapping confirmed by DO. [LS].

alternative label

Silver Russell Dwarfism

database_cross_reference

OMIM:180860

UMLS_CUI:C0175693

SNOMEDCT_US_2023_03_01:15069006

MESH:D056730

ICD10CM:Q87.19

GARD:4870

NCI:C85068

definition

A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.

OMIM mapping confirmed by DO. [LS].

has exact synonym

Silver Russell Dwarfism

has_obo_namespace

disease_ontology

id

DOID:14681

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Silver-Russell syndrome

notation

DOID:14681

note

A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.

OMIM mapping confirmed by DO. [LS].

preferred label

Silver-Russell syndrome

prefLabel

Silver-Russell syndrome

textual definition

A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.

subClassOf

http://purl.obolibrary.org/obo/DOID_0080015

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14681 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14681 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14681 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_14681 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14681 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14681 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_14681 FNS-H 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 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