Category:Rare diseases

*

• Rare disease

2

• 2-Hydroxyglutaric aciduria

3

• 3c syndrome

4

• 48, XXXX
• 49, XXXXX

A

• AREDYLD syndrome
• Aarskog-Scott syndrome
• ABCD syndrome
• Abdominal epilepsy
• Ablepharon macrostomia syndrome
• Acheiropodia
• Acrocallosal syndrome
• Acrodysostosis
• Acromicric dysplasia
• Acute intermittent porphyria
• Adams–Oliver syndrome
• Adducted thumb syndrome
• Adenosine deaminase deficiency
• Adenylosuccinate lyase deficiency
• Aicardi-Goutieres syndrome
• Alagille syndrome
• Aldolase A deficiency
• Alexander disease
• Alpha-mannosidosis
• Alveolar capillary dysplasia
• Amyotrophic lateral sclerosis
• Angelman syndrome
• Antithrombin III deficiency
• Antley-Bixler syndrome
• Aquagenic urticaria
• Argininosuccinic aciduria
• Arterial tortuosity syndrome
• Arthrogryposis
• Aspartylglucosaminuria
• Atelosteogenesis, type II
• Atransferrinemia
• Atypical trigeminal neuralgia

B

• Barakat syndrome
• Barraquer–Simons syndrome
• Behr's syndrome
• Benedikt syndrome
• Berk-Tabatznik syndrome
• Beta-ketothiolase deficiency
• Beta-mannosidosis
• Bhaskar Jagannathan syndrome
• Bietti's crystalline dystrophy
• Biliary atresia
• Birdshot chorioretinopathy
• Birt–Hogg–Dubé syndrome
• Bloom syndrome
• Boomerang dysplasia
• Derek Morgan Bush

C

• CAMFAK syndrome
• Capillary leak syndrome
• Carnitine palmitoyltransferase I deficiency
• Carnitine-acylcarnitine translocase deficiency
• Carnosinemia
• Carpenter syndrome
• Catamenial pneumothorax
• Caudal regression syndrome
• Cenani Lenz syndactylism
• Cerebral salt-wasting syndrome
• Chediak–Higashi syndrome
• Cholesteryl ester storage disease
• Chorea acanthocytosis
• Chromosome 5q deletion syndrome
• Cockayne syndrome

C cont.

• Confluent and reticulated papillomatosis of Gougerot and Carteaud
• Congenital chloride diarrhea
• Congenital ichthyosiform erythroderma
• Congenital insensitivity to pain
• Congenital insensitivity to pain with anhidrosis
• Cooks syndrome
• Cowden syndrome
• Craniodiaphyseal dysplasia
• Craniopagus parasiticus
• Cri du chat
• Cryopyrin-associated periodic syndrome
• Currarino syndrome
• Cyclic vomiting syndrome
• Cystic fibrosis

D

• Deficiency of the interleukin-1–receptor antagonist
• Denys-Drash syndrome
• Dermatopathia pigmentosa reticularis
• Diffuse panbronchiolitis
• Diphallia
• Donohue syndrome
• Dubowitz syndrome
• Dupuytren's contracture
• Dyskeratosis congenita

E

• EAST syndrome
• EEM syndrome
• Ectopia cordis
• Ectrodactyly
• Endocardial fibroelastosis
• Engleman-Camurdrie syndrome
• Enterolith
• Epidermodysplasia verruciformis
• Epidermolysis bullosa
• Epidermolysis bullosa simplex
• Epidermolytic hyperkeratosis
• Erdheim–Chester disease

F

• FACES syndrome
• Fabry disease
• Familial isolated vitamin E deficiency
• Farber disease
• Fetal trimethadione syndrome
• Fetus in fetu
• Fibrochondrogenesis
• Fibrodysplasia ossificans progressiva
• Finnish heritage disease
• Fitzsimmons-Guilbert syndrome
• Florid cutaneous papillomatosis
• Fountain syndrome
• Fucosidosis
• Fumarase deficiency

G

• GM1 gangliosidoses
• GM2 gangliosidoses
• GM2-gangliosidosis, AB variant
• GRACILE syndrome
• Galactocele
• Galactose epimerase deficiency
• Galactosialidosis
• Galloway Mowat syndrome
• Gangliosidosis
• Gaucher's disease
• Geographic tongue
• Gerodermia osteodysplastica
• Giant axonal neuropathy
• Gitelman syndrome
• Glanzmann's thrombasthenia
• Glutathione synthetase deficiency
• Glycogen storage disease type II
• Goodpasture's syndrome

G cont.

• Gray platelet syndrome
• Brooke Greenberg
• Griscelli syndrome
• Guanidinoacetate methyltransferase deficiency
• Gunther disease

H

• Hallermann-Streiff syndrome
• Harlequin syndrome
• Harlequin type ichthyosis
• Hartnup disease
• Hay–Wells syndrome
• Hemoglobinemia
• Hereditary multiple exostoses
• Hermansky–Pudlak syndrome
• Hydranencephaly
• Hypertryptophanemia
• Hypervalinemia
• Hypophosphatasia

I

• ICF syndrome
• IFAP syndrome
• Ichthyosis bullosa of Siemens
• Ichthyosis hystrix
• Ichthyosis lamellaris
• Idiopathic CD4+ lymphocytopenia
• Iminoglycinuria
• Impossible syndrome
• Infantile free sialic acid storage disease
• Iridogoniodysgenesis, dominant type
• Isovaleric acidemia
• Ivemark syndrome

J

• Jervell and Lange-Nielsen syndrome
• User:Jjemmett
• Johanson-Blizzard syndrome
• Juvenile Primary Lateral Sclerosis

K

• Kabuki syndrome
• Kasabach–Merritt syndrome
• Kaufman oculocerebrofacial syndrome
• Kearns-Sayre syndrome
• Keppen-Lubinsky Syndrome
• Keratolytic winter erythema
• Keutel syndrome
• Kimura disease
• Kindler syndrome
• Klippel-Trénaunay-Weber syndrome
• Krabbe disease
• Krause-Kivlin syndrome

L

• Lafora disease
• Lambert-Eaton myasthenic syndrome
• Laron syndrome
• Larsen syndrome
• Laryngeal papillomatosis
• Legg–Calvé–Perthes syndrome
• Lelis syndrome
• Leontiasis ossea
• Lesch–Nyhan syndrome
• Leukocyte adhesion deficiency
• Lhermitte-Duclos disease
• Liddle's syndrome
• Lipid storage disorder
• Lymphangioleiomyomatosis
• Lymphangiomatosis
• Lymphomatoid papulosis

M

• MOMO syndrome
• Mal de debarquement
• Male-limited precocious puberty
• Malignant hyperthermia
• Malonyl-CoA decarboxylase deficiency