Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
familial hypertrophic cardiomyopathy (DOID:0080326)
Annotations: Rat: (104) Mouse: (106) Human: (124) Chinchilla: (95) Bonobo: (100) Dog: (103) Squirrel: (96) Pig: (100)
Parent Terms Term With Siblings Child Terms
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency 
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
BOCKENHEIMER SYNDROME  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
chromosomal disease +   
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
Congenital Hepatic Fibrosis  
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. (DO)
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
Immunodeficiency 93  
infantile hypertrophic cardiomyopathy  
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
Lennox-Gastaut syndrome  
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 
Marfan syndrome +   
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
nuclear type mitochondrial complex I deficiency 20  
osteochondrodysplasia +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Sacral Agenesis with Vertebral Anomalies  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
yellow nail syndrome +  

Synonyms
Exact Synonyms: familial asymmetric septal hypertrophy ;   familial hypertrophic cardiomyopathies ;   familial ventricular hypertrophies ;   familial ventricular hypertrophy ;   hereditary ventricular hypertrophies ;   hereditary ventricular hypertrophy ;   obstructive asymmetric septal hypertrophy ;   primary familial hypertrophic cardiomyopathy
Narrow Synonyms: CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL ;   CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
Primary IDs: MESH:D024741
Xrefs: OMIM:PS192600 ;   ORDO:217569
Definition Sources: https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes "DO" "DO"

paths to the root