Preferred Name

Holt-Oram syndrome

Synonyms

Dysplasie atrio-digitale type 1

Displasia atriodigitale

Syndrome coeur-membres type 1

Dysplasie, atriodigitale

Syndrome coeur-main type 1

Heart-hand syndrome type 1

ID

http://www.limics.org/hrdo/rdfns#pat_id_1023

ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter

altLabel

Dysplasie atrio-digitale type 1

Displasia atriodigitale

Syndrome coeur-membres type 1

Dysplasie, atriodigitale

Syndrome coeur-main type 1

Heart-hand syndrome type 1

Displasia atriodigital

Herz-Hand-Syndrom

Displasia auriculo-digital

Sindrome cuore-mano

Coração-mão, síndrome

Atriodigital dysplasia type 1

Síndrome mano-corazón

Syndrome cardiomélique type 1

Síndrome coração-mão

id_MedDRA

10050469

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Holt+Oram%5Btw%5D+AND+syndrome%29+OR+%28tbx5+AND+congenital+heart+defect%5Btw%5D%29

id_MeSH

C535326

id_MIM

142900

id_OMS

Q87.2

id_Orpha

392

id_SNOMEDCT

19092004

id_UMLS

C0265264

inheritance

Autosomal dominant

Autosomique dominant

Autosomal dominant

Autosomica dominante

Autosómico dominate

Autosomal-dominant

Autossómica dominante

patType

malformation syndrome

prefixIRI

hrdo:pat_id_1023

prefLabel

Holt-Oram-Syndrom

Síndrome de Holt-Oram

Syndrome de Holt-Oram

Sindrome di Holt-Oram

Síndrome de Holt-Oram

Holt-Oram syndrome

prevalence

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007732 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007732 EFO 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://purl.obolibrary.org/obo/MONDO_0007732 DOVES 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