Human Disease Ontology

Last uploaded: June 2, 2024
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Preferred Name

Rubinstein-Taybi syndrome
Synonyms

proximal chromosome 16p13.3 deletion syndrome
Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_1933
comment

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0035934

SNOMEDCT_US_2023_03_01:157032007

ICD10CM:Q87.2

MESH:D012415

GARD:7593

MIM:180849

MIM:610543

MIM:613684

NCI:C75466

ORDO:783
definition

A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
has exact synonym

proximal chromosome 16p13.3 deletion syndrome

Broad Thumb-Hallux syndrome

Rubinstein syndrome
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:1933
in_subset

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

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

Rubinstein-Taybi syndrome
notation

DOID:1933
prefLabel

Rubinstein-Taybi syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_0060388

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1933 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1933 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1933 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1933 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1933 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019188 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019188 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200955 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200461 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.790 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1933 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0019188 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019188 KTAO LOOM
http://id.nlm.nih.gov/mesh/D012415 MDM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00201 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.804 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_1933 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1933 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1933 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1933 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1933 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C75466 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0013320 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.700 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/45582004 SNOMEDCT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037620 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D012415 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_783 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/D012415 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0035934 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10039281 MEDDRA LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Rubinstein-Taybi_Syndrome PEDTERM LOOM
http://purl.jp/bio/4/id/200906069771082692 IOBC LOOM
http://www.gamuts.net/entity#Rubinstein_Taybi_syndrome GAMUTS LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15255 DERMLEX LOOM
http://purl.org/skeletome/bonedysplasia#Rubinstein-Taybi_syndrome BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.850 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10964 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_151 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.790 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/PKy73 RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75466 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.797 RH-MESH LOOM
http://www.gamuts.net/entity#Rubinstein_Taybi_syndrome GAMUTS REST