Rare Disease Database

Hereditary Multiple Osteochondromas

Also known as: diaphyseal aclasis EXT external chondromatosis syndrome hereditary multiple exostoses multiple cartilaginous exostoses multiple exostoses multiple exostoses syndrome multiple osteochondromas multiple osteochondromatosis

Hereditary Neuralgic Amyotrophy

Also known as: hereditary brachial plexus neuropathy HNA

Hereditary Nonspherocytic Hemolytic Anemia

Also known as: congenital nonspherocytic hemolytic anemia HNHA NSA NSHA

Hereditary Orotic Aciduria

Also known as: hereditary orotic aciduria orotic aciduria type 1 OA type 1 orotidylic pyrophosphorylase and orotidlyic decarboxylase deficiency UMPS deficiency uridine monophosphate synthase deficiency

Hereditary Sensory and Autonomic Neuropathy Type 1E

Also known as: hereditary sensory autonomic neuropathy with dementia and hearing loss neuropathy, hereditary sensory, with hearing loss and dementia HSAN1E DNMT1 complex disorder

Hereditary Sensory and Autonomic Neuropathy Type II

Also known as: acroosteolysis, Giaccai Type acroosteolysis, Neurogenic Hereditary Sensory Neuropathy Type II HSAN2 HSAN II Morvan disease

Hereditary Sensory and Autonomic Neuropathy Type IV

Also known as: congenital insensitivity to pain with anhidrosis (CIPA) familial dysautonomia, Type II hereditary sensory neuropathy Type IV HSAN IV HSNAN4

Hereditary Sensory Neuropathy Type I

Also known as: hereditary sensory and autonomic neuropathy (HSAN) type I hereditary sensory radicular neuropathy, autosomal dominant HSAN1 HSN1

Hereditary Spastic Paraplegia

Also known as: familial spastic paraplegia FSP HSP hereditary spastic paraparesis familial spastic paraparesis spastic spinal familial paraplegia Strumpell disease Strumpell-Lorrain familial spasmodic paraplegia Strumpell-Lorrain syndrome Strumpell’s familial paraplegia

Hereditary Spherocytosis

Also known as: acholuric jaundice chronic acholuric jaundice congenital hemolytic anemia congenital hemolytic jaundice congenital spherocytic anemia hereditary spherocytic hemolytic anemia HS icterus (chronic familial) Minkowski-Chauffard syndrome SPH2 spherocytic anemia spherocytosis

Hermansky Pudlak Syndrome

Also known as: albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells delta storage pool disease HPS syndromic albinism

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Herpes, Neonatal

Also known as: Herpes Simplex Infection of Newborn Herpesvirus Hominis Infection of Newborn

Hiccups, Chronic

Also known as: Hiccough, Chronic Hiccups, Persistent Intractable Hiccups Singultus, Intractable

Hinman Syndrome

Also known as: Hinman-Allen syndrome non-neurogenic neurogenic bladder occult neuropathic bladder dysfunctional voiding

Hirschsprung Disease

Also known as: colonic aganglionosis congenital megacolon HAEC Hirschsprung-associated enterocolitis Hirschsprung’s disease HSCR intestinal aganglionosis megacolon, aganglionic