Rare Disease Library

Autoimmune encephalitis

AE · AIE

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Annular epidermolytic ichthyosis

AEI

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Acquired elastotic haemangioma

Acute myeloid leukaemia with myelodysplasia-related features

AML with multilineage dysplasia · Acute myeloid leukemia with multilineage dysplasia

Amoebiasis due to free-living amoebae

Anastomosing haemangioma

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Autosomal recessive otospondylomegaepiphyseal dysplasia

OSMED

Brachyolmia type 1, Hobaek type

Congenital anomaly of the tricuspid valve chordae

Congenital anomaly of tricuspid chordae tendineae · Congenital anomaly of tricuspid tendinous chords

Congenital ectropion uveae

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Cysts and fistulae of the face and oral cavity

Dwarfism-tall vertebrae syndrome

Fukuda-Miyanomae-Nakata syndrome

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

Hereditary benign intraepithelial dyskeratosis

HBID · Hereditary benign corneal intraepithelial dyskeratosis

Hydrocephalus-blue sclerae-nephropathy syndrome

Daentl-Townsend-Siegel syndrome

Hyperinsulinemic hypoglycaemia

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

Hypothalamic adipsic hypernatraemia syndrome

Ileal pouch anal anastomosis related faecal incontinence

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Microvenular haemangioma

MVH

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome

OBSOLETE: Chitty-Hall-Webb syndrome

OBSOLETE: Familial chondromalacia patellae

OBSOLETE: Lymphedema praecox

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

Pelizaeus-Merzbacher disease, transitional form

Transitional PMD

Pelizaeus-Merzbacher-like disease

PMLD

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy