Hand-Schüller-Christians sygdom
Hemorrhagiparous thrombocytic dystrophy
Hereditary neuropathy with liability to pressure palsy (HNPP)
Hereditær fruktose intolerance
Hereditær Hæmorrhagisk Telangiektasi
Hereditær motorisk sensorisk neuropati
Hereditær trykbetinget neuropati
Heredopathia atactica polyneuritiformis
Hirschsprungs sygdom mental retarderings syndrom
HME (hereditary multiple exostosis)
Holokarboxylase syntase defekt
Hyperostosis Corticalis Deformans Juvenilis Hyperphosphatasemia.
Hyperostosis generalisata with striations
Hypohidrotisk ectodermal dysplasi
Hypokomplementæmisk urtikaria-vaskulit syndrom
Hypoparathyreoidisme, isoleret