H00042  Glioma
     H00048  Hepatocellular carcinoma
     H00014  Non-small cell lung cancer
     H02259  Stormorken syndrome
     H00093  Combined immunodeficiency
     H01603  Primary aldosteronism
     H00144  Mucolipidosis IV
     H00768  Autosomal recessive intellectual developmental disorder
     H00773  Autosomal dominant intellectual developmental disorder
     H02705  Neurodevelopmental disorder with glutamatergic synapse dysfunction
     H00749  Episodic ataxias
     H00063  Spinocerebellar ataxia (SCA)
     H01891  Autosomal recessive spinocerebellar ataxias
     H00808  Idiopathic generalized epilepsies
     H01514  Landau-Kleffner syndrome
     H00606  Early infantile epileptic encephalopathy
     H02150  Infantile or early childhood epileptic encephalopathy
     H00775  Hemiplegic migraine
     H01810  Congenital myopathy
     H02258  Tubular aggregate myopathy
     H02320  Vacuolar myopathy with CASQ1 aggregates
     H00215  Periodic paralysis
     H01129  Brody myopathy
     H00481  Cone-rod dystrophy and cone dystrophy
     H00690  Aland Island eye disease
     H00787  Congenital stationary night blindness
     H00604  Deafness, autosomal dominant
     H00605  Deafness, autosomal recessive
     H00294  Dilated cardiomyopathy
     H00292  Hypertrophic cardiomyopathy
     H00293  Arrhythmogenic right ventricular cardiomyopathy
     H00720  Long QT syndrome
     H00728  Brugada syndrome
     H01019  Catecholaminergic polymorphic ventricular tachycardia
     H02636  Sinoatrial node dysfunction and deafness
     H00801  Familial thoracic aortic aneurysm and dissection
     H00715  Darier disease
     H00755  Acrokeratosis verruciformis
     H01307  Nonsyndromic congenital nail disorder
     H02281  Isolated anhidrosis with normal sweat glands
     H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
     H02641  Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
     H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia