Human Disease Ontology / 人类疾病本体 - Holt-Oram syndrome - Classes

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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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125592	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.bioontology.org/ontology/MESH/C535326	Medical Subject Headings / 医学主题词表	LOOM
http://www.orpha.net/ORDO/Orphanet_392	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0007732	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0007732	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bioontology.org/ontology/OMIM/142900	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM