Hereditary thermosensitive neuropathy

Adolescent, Adult, Childhood

Hereditary thrombocytopenia with early-onset myelofibrosis

Autosomal dominant

Neonatal

Hereditary thrombocytopenia with normal platelets

Autosomal dominant, Autosomal recessive, X-linked recessive

All ages

Hereditary thrombophilia due to congenital antithrombin deficiency

Autosomal dominant

Adolescent, Adult

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Autosomal dominant

Hereditary xanthinuria

Autosomal recessive

All ages

Heritable pulmonary arterial hypertension

Autosomal dominant, Autosomal recessive

All ages

Hermansky-Pudlak syndrome

Autosomal recessive

Infancy, Neonatal

Hermansky-Pudlak syndrome due to AP-3 deficiency

Autosomal recessive

Neonatal

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Autosomal recessive

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

Autosomal recessive

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

Autosomal recessive

Infancy, Neonatal

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

Autosomal recessive

Infancy, Neonatal

Hernández-Aguirre Negrete syndrome

Autosomal recessive

Childhood

Herpes simplex virus encephalitis

Multigenic/multifactorial, Not applicable

All ages

Herpes simplex virus stromal keratitis

Not applicable

All ages

Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene

Autosomal recessive

Hidrotic ectodermal dysplasia

Autosomal dominant

Childhood

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Autosomal dominant

Infancy, Neonatal

Hidrotic ectodermal dysplasia, Halal type

Autosomal recessive

Infancy, Neonatal

High altitude pulmonary edema

All ages

High bone mass osteogenesis imperfecta

Autosomal dominant

Childhood

High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement

High myopia-sensorineural deafness syndrome

Autosomal recessive

Infancy, Neonatal