Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

Synonyms

HEART BLOCK, NONPROGRESSIVE

ID

http://purl.bioontology.org/ontology/OMIM/113900

altLabel

HEART BLOCK, NONPROGRESSIVE

HEREDITARY BUNDLE BRANCH SYSTEM DEFECT

BUNDLE BRANCH BLOCK

CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE

HBBD

PFHB1A

PFHBI

LENEGRE-LEV DISEASE

PCCD

PFHBIA

HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I

CARDIAC CONDUCTION DEFECT, PROGRESSIVE

cui

C1879286

C1861983

C1861984

Gene Locus

3p21

Gene Symbol

CDCD2

CMD1E

SCN5A

HB1

SSS1

LQT3

VF1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036516

http://purl.bioontology.org/ontology/OMIM/MTHU006088

http://purl.bioontology.org/ontology/OMIM/MTHU026841

http://purl.bioontology.org/ontology/OMIM/MTHU017977

http://purl.bioontology.org/ontology/OMIM/MTHU019189

http://purl.bioontology.org/ontology/OMIM/MTHU019187

http://purl.bioontology.org/ontology/OMIM/MTHU019192

http://purl.bioontology.org/ontology/OMIM/MTHU019190

http://purl.bioontology.org/ontology/OMIM/MTHU026842

http://purl.bioontology.org/ontology/OMIM/MTHU037132

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

211550

notation

113900

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

tui

T047

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http://purl.bioontology.org/ontology/MESH/C566186 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566185 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0111074 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C566873 Medical Subject Headings CUI