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Preferred Name

Holt Oram syndrome
Synonyms
Definitions

characterized by malformations of bones of the thumbs, hands and forearms and/or abnormalities of the heart; in many infants, the thumbs and wrists may be absent, underdeveloped or have an extra bone; scapulae, clavicles, and/or other bones may also be abnormal.
ID

http://purl.bioontology.org/ontology/CSP/5002-0020
cui

C0265264
definition

characterized by malformations of bones of the thumbs, hands and forearms and/or abnormalities of the heart; in many infants, the thumbs and wrists may be absent, underdeveloped or have an extra bone; scapulae, clavicles, and/or other bones may also be abnormal.
DID

5002-0020
Inverse of RB

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/0724-8315
notation

5002-0020
prefLabel

Holt Oram syndrome
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/0726-3953

http://purl.bioontology.org/ontology/CSP/0944-7801

http://purl.bioontology.org/ontology/CSP/1254-7727

http://purl.bioontology.org/ontology/CSP/0724-8315
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http://purl.bioontology.org/ontology/MDRGER/10050469 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/19092004 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/601620 OMIM CUI
http://purl.bioontology.org/ontology/MESH/C535326 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10050469 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00906 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/19092004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.2 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/142900 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10050469 MDRFRE CUI
http://purl.obolibrary.org/obo/MONDO_0007732 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007732 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0060468 DOID 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 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://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