Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

progressive familial heart block type IB

Synonyms

PFHB1B

Definitions

A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.

ID

http://purl.obolibrary.org/obo/DOID_0111076

database_cross_reference

OMIM:604559

MESH:C567037

definition

A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.

has exact synonym

PFHB1B

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0111076

label

progressive familial heart block type IB

notation

DOID:0111076

prefLabel

progressive familial heart block type IB

subClassOf

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

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

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http://purl.bioontology.org/ontology/MESH/C567037 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0011474 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/604559 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM