Preferred Name

Holt-Oram syndrome

Synonyms

atriodigital dysplasia type 1

heart-hand syndrome type 1

HOS

Holt-Oram syndrome

atrio digital syndrome

atrio-digital syndrome

heart-hand syndrome

atriodigital dysplasia

Cardiac-limb syndrome

HOLT-Oram syndrome

ventriculo-radial syndrome

heart-hand syndrome, type 1

Hos1

HOS 1

Definitions

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

ID

http://purl.obolibrary.org/obo/MONDO_0007732

has_broad_synonym

atrio digital syndrome

atrio-digital syndrome

heart-hand syndrome

atriodigital dysplasia

has_exact_synonym

atriodigital dysplasia type 1

heart-hand syndrome type 1

HOS

Holt-Oram syndrome

has_related_synonym

Cardiac-limb syndrome

HOLT-Oram syndrome

ventriculo-radial syndrome

heart-hand syndrome, type 1

Hos1

HOS 1

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948

label

Holt-Oram syndrome

prefixIRI

MONDO:0007732

prefLabel

Holt-Oram syndrome

textual definition

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005267

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0016432

http://purl.obolibrary.org/obo/MONDO_0015161

http://purl.obolibrary.org/obo/MONDO_0019713

http://purl.obolibrary.org/obo/MONDO_0002254

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007732 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007732 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007732 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007732 EFO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1023 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535326 RH-MESH LOOM
http://www.gamuts.net/entity#Holt_Oram_syndrome GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0060468 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060468 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060468 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060468 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/C535326 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050469 MEDDRA LOOM
http://purl.bioontology.org/ontology/CSP/5002-0020 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125592 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C125592 BERO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00906 SNMI LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265264 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19092004 SNOMEDCT LOOM
http://www.co-ode.org/ontologies/galen#HoltOramSyndrome GALEN LOOM
http://purl.bioontology.org/ontology/OMIM/142900 OMIM LOOM
http://purl.jp/bio/4/id/200906089145321309 IOBC LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy7100 RCTV2 LOOM
http://purl.org/skeletome/bonedysplasia#Holt-Oram_syndrome BDO LOOM
http://purl.obolibrary.org/obo/OMIM_142900 CCO LOOM
http://www.orpha.net/ORDO/Orphanet_392 ORDO LOOM
http://identifiers.org/omim/142900 REXO LOOM
http://identifiers.org/omim/142900 GEXO LOOM
http://identifiers.org/omim/142900 RETO LOOM