Human Disease Ontology 123

Last uploaded: September 28, 2023
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].

database_cross_reference

OMIM:180860

ICD10CM:Q87.19

UMLS_CUI:C0175693

NCI:C85068

MESH:D056730

SNOMEDCT_US_2022_09_01:15069006

GARD:4870

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.

has exact synonym

Silver Russell Dwarfism

has_obo_namespace

disease_ontology

id

DOID:14681

in_subset

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

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

label

Silver-Russell syndrome

notation

DOID:14681

prefLabel

Silver-Russell syndrome

subClassOf

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

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D056730 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/180860 Online Mendelian Inheritance in Man LOOM