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  • A – F

    Print | Thursday 12 January 2012 | 17,891 views

    -A-

    Acromegaly
    – Gigantism
    Addison disease
    – Primary adrenocortical deficiency
    – Acquired hypocortisolism
    – Acquired chronic adrenal insufficiency
    Adenoma sebaceum
    Alexander disease
    – Leukodystrophy with Rosenthal fibers
    Allagille syndrome
    – Allagille-Watson syndrome
    – Arteriohepatic dysplasia
    – Syndromic bile duct paucity
    Alpha 1 antitrypsin deficiency
    Amyotrophic lateral sclerosis
    – Charcot disease
    – Lou-Gehrig disease
    Anhydrotic ectodermal dysplasia
    Aniridia
    – Deletion 11p
    Ataxia telangectasia
    – Louis-Bar syndrome
    Atrophy, olivopontocerebellar
    – Atrophy, sporadic olivopontocerebellar type 1
    Axenfeld-Rieger syndrome

    -B-

    Batten disease
    – Neuronal ceroid lipofuscinosis
    – Spielmeyer-Vogt disease
    Becker type muscular dystrophy
    Bechterew disease
    Behçet syndrome
    Blepharospasm
    Bruton agammaglobulinemia
    – X-linked agammaglobulinemia
    – Bruton disease
    – Bruton tyrosine kinase gene disease

    -C-

    Cardiofaciocutaneous syndrome (CFC)
    Cerebellar ataxia, Holmes type
    – Cerebello-olivar atrophy
    Cervical dystonia
    – Torticollis spastica
    – Torticollis
    – Spasmodic torticollis
    Charcot-Marie-Tooth disease
    – Hereditary Charcot-Marie-Tooth neuropathy
    Chiari malformation
    – Arnold-Chiari malformation
    Churg-Strauss syndrome
    – Allergic granulomatosis
    – Granulomatous small-vessel vasculitis
    Club foot
    – Pes equinovarus congenitus
    Cohen syndrome
    Congenital factor XIII deficiency
    – Fibrin-stabilizing factor deficency
    Cornelia de Lange syndrome
    – Brachmann-de Lange syndrome
    Craniosynostosis
    Crohn disease
    Cushing syndrome
    – Corticotroph pituitary adenoma
    – Primary pigmented nodular adrenal disease
    Cutis verticis gyrata

    -D-

    Darier disease
    – Keratosis follicularis
    – Dyskeratosis follicularis
    – Darier-White disease
    DiGeorge syndrome
    – Thymic hypoplasia
    – CATCH22 syndrome
    – 22q11.2 deletion syndrome
    – Velocardiofacial syndrome
    Dilated cardiomyopathy
    Distal myopathies
    Down syndrome
    – Trisomy 21
    Duchenne type muscular dystrophy
    – Pseudohypertrophic progressive muscular dystrophy, Duchenne type
    Dystonia, primary (DYT1)
    – Dystonia musculorum deformans
    – Dystonia, early-onset generalized torsion (EOTD)
    – Dystonia, early-onset primary
    – Dystonia, idiopathic
    – Dystonia, idiopathic torsion
    – Oppenheim’s dystonia

    -E-

    Epidermolysis bullosa

    -F-

    Facioscapulohumeral muscular dystrophy
    – Landouzy-Déjérine disease
    Fahr disease
    – Idiopathic basal ganglia calcification
    – Bilateral striopallidodentate calcinosis
    – Cerebrovascular ferrocalcinosis
    Familial Mediterranian fever
    Fibromatosis, agressive
    – Desmoid disease
    Friedreich ataxia
    – Early onset ataxia


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