Rare Disease Library

Hereditary periodic fever syndrome

Hereditary persistence of alpha-fetoprotein

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

HPFH-beta-thalassemia syndrome

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Dias-Logan syndrome

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Hereditary pheochromocytoma-paraganglioma

Familial pheochromocytoma-paraganglioma

Hereditary poikiloderma

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Hereditary progressive mucinous histiocytosis

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Hereditary pyropoikilocytosis

Hereditary renal hypouricemia

Familial renal hypouricemia

Hereditary retinoblastoma

Hereditary sclerosing poikiloderma, Weary type

Hereditary sensorimotor neuropathy with hyperelastic skin

Hereditary sensory and autonomic neuropathy

HSAN

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

HSAN due to TECPR2 mutation · Autosomal recessive spastic paraplegia type 49

Hereditary sensory and autonomic neuropathy type 1

HSAN1 · Hereditary sensory and autonomic neuropathy type I

Hereditary sensory and autonomic neuropathy type 1B

HSAN with cough and gastroesophageal reflux · HSAN1B

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

Hereditary sensory and autonomic neuropathy type 4

HSAN4 · CIPA

Hereditary sensory and autonomic neuropathy type 5

Congenital insensitivity to pain and thermal analgesia · HSAN5

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures

Hereditary sensory and autonomic neuropathy type 7

CIP with hyperhidrosis and gastrointestinal dysfunction · Hereditary sensory and autonomic neuropathy type VII

Hereditary sensory and autonomic neuropathy type 8

HSAN8 · Hereditary sensory and autonomic neuropathy type VIII

Hereditary sensory and autonomic neuropathy with deafness and global delay

HSAN with deafness and global delay · HSAN with hearing loss and global delay

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

Hereditary sick sinus syndrome

Hereditary site-specific ovarian cancer syndrome

Hereditary sodium channelopathy-related small fibers neuropathy

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

Hereditary spherocytosis

Minkowski-Chauffard disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hereditary thermosensitive neuropathy

Hereditary thrombocytopenia with early-onset myelofibrosis

Hereditary thrombocytopenia with normal platelets

Hereditary thrombophilia due to congenital antithrombin deficiency

Hereditary thrombophilia due to congenital antithrombin 3 deficiency

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

Hereditary thrombophilia due to congenital HRG deficiency

Hereditary vascular retinopathy

HVR · Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome

Hereditary xanthinuria

Classic xanthinuria · Xanthic urolithiasis

Heritable pulmonary arterial hypertension

Familial pulmonary arterial hypertension · FPAH

Hermansky-Pudlak syndrome

HPS

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome with neutropenia · Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

HPS without pulmonary fibrosis · Hermansky-Pudlak syndrome without pulmonary fibrosis

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis

Hermansky-Pudlak syndrome type 8

HPS8