Rare Disease Library

Homozygous hemoglobin O Arab disease

Homozygous O Arab hemoglobinopathy

Homozygous hereditary elliptocytosis

Horizontal gaze palsy with progressive scoliosis

HGPPS · Progressive external ophthalmoplegia and scoliosis

Hot water reflex epilepsy

HWE

Hoyeraal-Hreidarsson syndrome

Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

HTRA1-related cerebral small vessel disease

HTRA1-related cerebral angiopathy

Hughes-Stovin syndrome

Human herpesvirus 8-related disorder

HHV-8-related disorder

Human infection by orthopoxvirus

Human prion disease

TSE · Transmissible spongiform encephalopathy

Humerospinal dysostosis

Humerus trochlea aplasia

Hunter-Carpenter-McDonald syndrome

Hunter-McAlpine syndrome

Huntington disease-like 1

Early-onset prion disease with prominent psychiatric features · HDL1

Huntington disease-like 2

HDL2

Huntington disease-like 3

HDL3

Huntington disease-like syndrome

Huntington disease phenocopy syndrome

Huntington disease-like syndrome due to C9ORF72 expansions

C9ORF72-related Huntington disease phenocopy · C9ORF72-related Huntington disease-like syndrome

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Hurler syndrome

Hurler disease · MPS1H

Hurler-Scheie syndrome

MPS1H/S · MPSIH/S

Hutchinson-Gilford progeria syndrome

HGPS · Progeria

Hyaline fibromatosis syndrome

Hyaluronidase deficiency

MPS9 · MPSIX

Hydatidiform mole

Molar pregnancy

Hydranencephaly

Hydroa vacciniforme

Hydroa vacciniforme-like lymphoma

HVLL · Angiocentric cutaneous T-cell lymphoma of childhood

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Hydrocephalus-blue sclerae-nephropathy syndrome

Daentl-Townsend-Siegel syndrome

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome

Hydrocephalus-obesity-hypogonadism syndrome

Sengers-Hamel-Otten syndrome

Hydrocephaly-cerebellar agenesis syndrome

Hydrocephaly-low insertion umbilicus syndrome

Palmer-Pagon syndrome

Hydrocephaly-tall stature-joint laxity syndrome

Daish-Hardman-Lamont syndrome

Hydrolethalus

Hydrops fetalis

Fetal anasarca · Fetal hydrops

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Hymenolepiasis

Hyper-beta-alaninemia

Hyperalaninemia