Human Phenotype Ontology 
Grandparent Node:
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Abnormality of cardiovascular system electrophysiology (HP:0030956)help
Parent Node:
expand
Arrhythmia (HP:0011675)help
..Starting node
..expand
Bradycardia (HP:0001662)help
Term ID: 1662
Name: Bradycardia
Synonym: Brachycardia; Slow heartbeats
Definition: A slower than normal heart rate (in adults, slower than 60 beats per minute).
Comments:
Reference: HP:0001662
Genes and Diseases:
 
       Child Nodes:
........expandSinus bradycardia (HP:0001688) help

 Sister Nodes: 
..expandAbnormal electrophysiology of sinoatrial node origin (HP:0011702) help
..expandAbnormal heart rate variability (HP:0031860) help
..expandCardiac arrest (HP:0001695) help
..expandPalpitations (HP:0001962) help
..expandSupraventricular arrhythmia (HP:0005115) help
..expandTachycardia (HP:0001649) help
..expandVentricular arrhythmia (HP:0004308) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001662HP:0001662Bradycardia0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040283 - Occasional147
HP:0001662HP:0001662Bradycardia0AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0001662HP:0001662Bradycardia0ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related539
HP:0001662HP:0001662Bradycardia0ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0001662HP:0001662Bradycardia0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0001662HP:0001662Bradycardia0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0001662HP:0001662Bradycardia0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0001662HP:0001662Bradycardia0CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0001662HP:0001662Bradycardia0CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0001662HP:0001662Bradycardia0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0001662HP:0001662Bradycardia0CACNA1D CL E G H7761391OMIM:614896Sinoatrial node dysfunction and deafness.51
HP:0001662HP:0001662Bradycardia0CACNA2D1 CL E G H7811399ORPHA:51083Familial short QT syndromeHP:0040281 - Very frequent59
HP:0001662HP:0001662Bradycardia0CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0001662HP:0001662Bradycardia0CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15HP:0040283 - Occasional13
HP:0001662HP:0001662Bradycardia0CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0001662HP:0001662Bradycardia0CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0001662HP:0001662Bradycardia0CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0001662HP:0001662Bradycardia0CASQ2 CL E G H8451513OMIM:611938Ventricular tachycardia, catecholaminergic polymorphic, 2.129
HP:0001662HP:0001662Bradycardia0CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0001662HP:0001662Bradycardia0CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0001662HP:0001662Bradycardia0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0001662HP:0001662Bradycardia0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001662HP:0001662Bradycardia0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 7HP:0040283 - Occasional24
HP:0001662HP:0001662Bradycardia0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001662HP:0001662Bradycardia0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0001662HP:0001662Bradycardia0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0001662HP:0001662Bradycardia0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0001662HP:0001662Bradycardia0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0001662HP:0001662Bradycardia0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0001662HP:0001662Bradycardia0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0001662HP:0001662Bradycardia0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IBHP:0040283 - Occasional45
HP:0001662HP:0001662Bradycardia0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0001662HP:0001662Bradycardia0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0001662HP:0001662Bradycardia0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0001662HP:0001662Bradycardia0GNB2 CL E G H27834398OMIM:619464SICK SINUS SYNDROME 4; SSS4
HP:0001662HP:0001662Bradycardia0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040282 - Frequent7
HP:0001662HP:0001662Bradycardia0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0001662HP:0001662Bradycardia0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmiaHP:0040283 - Occasional7
HP:0001662HP:0001662Bradycardia0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001662HP:0001662Bradycardia0HCN4 CL E G H1002116882OMIM:619521EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18185
HP:0001662HP:0001662Bradycardia0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0001662HP:0001662Bradycardia0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001662HP:0001662Bradycardia0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0001662HP:0001662Bradycardia0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0001662HP:0001662Bradycardia0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0001662HP:0001662Bradycardia0KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0001662HP:0001662Bradycardia0KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0001662HP:0001662Bradycardia0KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0001662HP:0001662Bradycardia0KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0001662HP:0001662Bradycardia0KCNH2 CL E G H37576251ORPHA:51083Familial short QT syndromeHP:0040281 - Very frequent901
HP:0001662HP:0001662Bradycardia0KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0001662HP:0001662Bradycardia0KCNJ2 CL E G H37596263ORPHA:51083Familial short QT syndromeHP:0040281 - Very frequent193
HP:0001662HP:0001662Bradycardia0KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0001662HP:0001662Bradycardia0KCNQ1 CL E G H37846294ORPHA:51083Familial short QT syndromeHP:0040281 - Very frequent730
HP:0001662HP:0001662Bradycardia0KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0001662HP:0001662Bradycardia0KCNQ1 CL E G H37846294OMIM:609621Short QT syndrome 2.730
HP:0001662HP:0001662Bradycardia0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040284 - Very rare116
HP:0001662HP:0001662Bradycardia0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040284 - Very rare167
HP:0001662HP:0001662Bradycardia0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040284 - Very rare135
HP:0001662HP:0001662Bradycardia0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0001662HP:0001662Bradycardia0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0001662HP:0001662Bradycardia0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0001662HP:0001662Bradycardia0LMNA CL E G H40006636OMIM:115200Cardiomyopathy, dilated, 1A645
HP:0001662HP:0001662Bradycardia0MYL4 CL E G H46357585OMIM:617280Atrial fibrillation, familial, 18HP:0040283 - Occasional2
HP:0001662HP:0001662Bradycardia0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0001662HP:0001662Bradycardia0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001662HP:0001662Bradycardia0NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0001662HP:0001662Bradycardia0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040283 - Occasional13
HP:0001662HP:0001662Bradycardia0NPPA CL E G H48787939OMIM:615745Atrial standstill 2.13
HP:0001662HP:0001662Bradycardia0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0001662HP:0001662Bradycardia0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0001662HP:0001662Bradycardia0PPA2 CL E G H2706828883OMIM:617222Sudden cardiac failure, infantile.8
HP:0001662HP:0001662Bradycardia0PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6235
HP:0001662HP:0001662Bradycardia0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0001662HP:0001662Bradycardia0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0001662HP:0001662Bradycardia0SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0001662HP:0001662Bradycardia0SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0001662HP:0001662Bradycardia0SCN5A CL E G H633110593OMIM:614022Atrial fibrillation, familial, 101134
HP:0001662HP:0001662Bradycardia0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040283 - Occasional1134
HP:0001662HP:0001662Bradycardia0SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0001662HP:0001662Bradycardia0SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0001662HP:0001662Bradycardia0SCN9A CL E G H633510597OMIM:167400Paroxysmal extreme pain disorder.318
HP:0001662HP:0001662Bradycardia0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0001662HP:0001662Bradycardia0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040283 - Occasional51
HP:0001662HP:0001662Bradycardia0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040283 - Occasional33
HP:0001662HP:0001662Bradycardia0SGO1 CL E G H15164825088OMIM:616201Chronic atrial and intestinal dysrhythmia.2
HP:0001662HP:0001662Bradycardia0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0001662HP:0001662Bradycardia0SLC4A3 CL E G H650811029ORPHA:51083Familial short QT syndromeHP:0040281 - Very frequent7
HP:0001662HP:0001662Bradycardia0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0001662HP:0001662Bradycardia0SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0001662HP:0001662Bradycardia0TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0001662HP:0001662Bradycardia0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0001662HP:0001662Bradycardia0TLL1 CL E G H709211843OMIM:613087Atrial septal defect 6HP:0040283 - Occasional6
HP:0001662HP:0001662Bradycardia0TMEM43 CL E G H7918828472OMIM:614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant.171
HP:0001662HP:0001662Bradycardia0TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0001662HP:0001662Bradycardia0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0001662HP:0001662Bradycardia0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0001662HP:0001662Bradycardia0TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0001662HP:0001662Bradycardia0TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB.124
HP:0001662HP:0001662Bradycardia0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040283 - Occasional9
HP:0001662HP:0001662Bradycardia0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040283 - Occasional97
HP:0001662HP:0001662Bradycardia0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0001662HP:0001662Bradycardia0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3HP:0040283 - Occasional113
HP:0001662HP:0001662Bradycardia0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001662HP:0001662Bradycardia0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0001662HP:0001688Sinus bradycardia1AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent289
HP:0001662HP:0001688Sinus bradycardia1ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related.539
HP:0001662HP:0001688Sinus bradycardia1ANK2 CL E G H287493ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent539
HP:0001662HP:0001688Sinus bradycardia1BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0001662HP:0001688Sinus bradycardia1CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0001662HP:0001688Sinus bradycardia1CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent572
HP:0001662HP:0001688Sinus bradycardia1CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent18
HP:0001662HP:0001688Sinus bradycardia1CALM2 CL E G H8051445OMIM:616249Long QT syndrome 1513
HP:0001662HP:0001688Sinus bradycardia1CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent13
HP:0001662HP:0001688Sinus bradycardia1CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent16
HP:0001662HP:0001688Sinus bradycardia1CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9HP:0040283 - Occasional148
HP:0001662HP:0001688Sinus bradycardia1CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent148
HP:0001662HP:0001688Sinus bradycardia1GNB2 CL E G H27834398OMIM:619464SICK SINUS SYNDROME 4; SSS4
HP:0001662HP:0001688Sinus bradycardia1HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2.185
HP:0001662HP:0001688Sinus bradycardia1HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001662HP:0001688Sinus bradycardia1KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0001662HP:0001688Sinus bradycardia1KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0001662HP:0001688Sinus bradycardia1KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent148
HP:0001662HP:0001688Sinus bradycardia1KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent43
HP:0001662HP:0001688Sinus bradycardia1KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent901
HP:0001662HP:0001688Sinus bradycardia1KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent128
HP:0001662HP:0001688Sinus bradycardia1KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent730
HP:0001662HP:0001688Sinus bradycardia1LMNA CL E G H40006636OMIM:115200Cardiomyopathy, dilated, 1A645
HP:0001662HP:0001688Sinus bradycardia1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0001662HP:0001688Sinus bradycardia1NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent4
HP:0001662HP:0001688Sinus bradycardia1PRKAG2 CL E G H514229386OMIM:600858Cardiomyopathy, familial hypertrophic, 6.235
HP:0001662HP:0001688Sinus bradycardia1SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent146
HP:0001662HP:0001688Sinus bradycardia1SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent110
HP:0001662HP:0001688Sinus bradycardia1SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent1134
HP:0001662HP:0001688Sinus bradycardia1SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0001662HP:0001688Sinus bradycardia1SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent118
HP:0001662HP:0001688Sinus bradycardia1TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent123
HP:0001662HP:0001688Sinus bradycardia1TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy.1
HP:0001662HP:0001688Sinus bradycardia1TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0001662HP:0001688Sinus bradycardia1TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndromeHP:0040282 - Frequent145


Genes (87) :ABCA3 AKAP9 ANK2 ASXL1 BRAT1 BVES CACNA1C CACNA1D CACNA2D1 CALM1 CALM2 CALM3 CASQ2 CAV3 CAVIN1 CLN3 COQ4 COQ9 DES DOLK DST DUOX2 DUOXA2 ECHS1 EFEMP2 GFM2 GLUL GLYCTK GNB2 GNB5 GRIN1 HCN4 HEPHL1 HESX1 HTRA2 IYD KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 LAMA3 LAMB3 LAMC2 LHX3 LHX4 LIPT1 LMNA MYL4 MYO1H NDUFA8 NOS1AP NPPA PAX8 POU1F1 PPA2 PRKAG2 PROP1 SCN10A SCN4B SCN5A SCN9A SCO1 SFTPB SFTPC SGO1 SLC25A20 SLC4A3 SLC5A5 SNTA1 TBX5 TG TLL1 TMEM43 TNNI3K TNNT2 TPO TRDN TRPM4 TSHB TSHR TSPYL1 TWNK UQCRFS1 USP18

Diseases (69) :ORPHA:70587 ORPHA:101016 OMIM:600919 ORPHA:97297 OMIM:614498 OMIM:616812 OMIM:618447 OMIM:601005 OMIM:614896 ORPHA:51083 OMIM:616249 OMIM:618782 OMIM:611938 OMIM:611818 OMIM:613327 ORPHA:228346 OMIM:616276 OMIM:614654 OMIM:601419 OMIM:610768 OMIM:614653 ORPHA:95716 OMIM:616277 OMIM:614437 ORPHA:565624 OMIM:610015 OMIM:220120 OMIM:619464 ORPHA:542306 OMIM:617173 OMIM:617182 OMIM:619814 OMIM:619521 OMIM:163800 OMIM:261990 ORPHA:226307 OMIM:617248 OMIM:612240 OMIM:613695 OMIM:609621 ORPHA:79404 OMIM:616299 OMIM:115200 OMIM:617280 OMIM:619482 OMIM:619272 ORPHA:1344 OMIM:615745 OMIM:218700 OMIM:617222 OMIM:600858 OMIM:261740 OMIM:614022 OMIM:608567 OMIM:167400 OMIM:619048 OMIM:616201 OMIM:212138 OMIM:613087 OMIM:614302 OMIM:616117 OMIM:601494 OMIM:604559 ORPHA:90674 ORPHA:90673 OMIM:608800 OMIM:609286 OMIM:618775 OMIM:617397
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.