Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

Holt-Oram syndrome

Synonyms

atrio-digital syndrome

Definitions

A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.

ID

http://purl.obolibrary.org/obo/DOID_0060468

created_by

elvira

creation_date

2015-11-17T16:06:23Z

database_cross_reference

MESH:C535326

NCI:C125592

UMLS_CUI:C0265264

ICD10CM:Q87.2

SNOMEDCT_US_2022_09_01:205814003

OMIM:142900

ORDO:392

GARD:6666

definition

A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.

has exact synonym

atrio-digital syndrome

atriodigital dysplasia

heart-hand syndrome

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0060468

in_subset

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

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

label

Holt-Oram syndrome

notation

DOID:0060468

prefLabel

Holt-Oram syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125592 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C535326 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/142900 Online Mendelian Inheritance in Man LOOM