Rare Disease Library

Single isolated optic neuritis

SION · Isolated single optic neuritis

Acroosteolysis-keloid-like lesions-premature aging syndrome

Premature aging syndrome, Penttinen type

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Acute peripheral arterial occlusion

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Atrichia with papular lesions

Papular atrichia

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Autosomal dominant progressive nephropathy with hypertension

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Calvarial doughnut lesions-bone fragility syndrome

Familial doughnut lesions of skull

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Caudal regression-sirenomelia spectrum

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Central retinal artery occlusion

CRAO

Central retinal vein occlusion

CRVO

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

CONDBA

Chronic thromboembolic pulmonary hypertension

CTEPH

Color-vision disease

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

Disorder with optic nerve compression

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced PAH · PAH

Early-onset familial noncirrhotic portal hypertension

Encephalopathy due to mitochondrial and peroxisomal fission defect

Epithelial recurrent erosion dystrophy

Dystrophia Smolandiensis · ERED

Esthesioneuroblastoma

Olfactory neuroblastoma

Familial encephalopathy with neuroserpin inclusion bodies

FENIB

Fatal infantile encephalopathy-pulmonary hypertension syndrome

Genetic primary orthostatic hypotension

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hereditary inclusion body myopathy type 4

HIBM4

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

Heritable pulmonary arterial hypertension

Familial pulmonary arterial hypertension · FPAH

Huntington disease-like syndrome due to C9ORF72 expansions

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

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Idiopathic intracranial hypertension

Benign intracranial hypertension · IIH

Idiopathic pulmonary arterial hypertension

IPAH · PAH

Idiopathic uveal effusion syndrome

Idiopathic/heritable pulmonary arterial hypertension

Idiopathic and/or familial pulmonary arterial hypertension · PAH

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

Inclusion body myositis

IBM · Sporadic inclusion body myositis

Inclusion myopathy