Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

progressive familial heart block type IA

Synonyms

PFHB1A

Definitions

A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.

ID

http://purl.obolibrary.org/obo/DOID_0111074

database_cross_reference

OMIM:113900

definition

A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.

has exact synonym

PFHB1A

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0111074

label

progressive familial heart block type IA

notation

DOID:0111074

prefLabel

progressive familial heart block type IA

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0111073

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126651 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/OMIM/113900 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM