Information Centre for Rare Diseases
and Orphan Drugs - Bulgaria

-G-

GM1 gangliosidosis, type 1
- Beta-galactosidase-1 deficiency
- GLB1 deficiency
- Gene map locus 3p21.33
Garre disease
- Primary chronic sclerosing osteomyelitis
- Proliferative periostitis
- Sclerosing periostitis
- Sclerosing osteomyelitis
Gaucher disease
- Glucocerebrosidase deficiency
- Acid beta-glucosidase deficiency
- GBA deficiency
Glycogen storage disease (GSD)
- Glycogenosis
Goldenhar syndrome
- Oculo-auriculo-vertebral anomaly
- Goldenhar-Gorlin syndrome
- Hemifacial microsomia
Guillain-Barre syndrome

-H-

Hailey-Hailey disease
- Chronic benign familial pemphigus
Hairy tongue
- Lingua villosa
Hashimoto thyroiditis
- Hashimoto struma
- Hashimoto hypothyroidism
Hemoglobinuria, paroxysmal nocturnal (PNH)
- Marchiafava-Micheli disease
Hereditary angioedema
Homocystinuria
- Cystathionine beta-synthase deficiency
- Homocystinuria due to cystathionine beta-synthase deficiency
Huntington disease
- Huntington chorea
Hystiocitosis X
- Eosinophilic granulomatosis
- Pulmonary Langerhans cell histiocytosis
- Nonlipid reticuloendotheliosis
- Hand-Schuller-Christian disease
- Letterer-Siwe disease
Hyperammonemia
- N-acetylglutamate synthase deficiency
Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis
- Hypomagnesemia renal type 3, HOMG3

-I-

Ichthyosis
Idiopathic CD4 lymphocytopenia
Infectious mononucleosis
Interstitial cystitis
- Bladder pain syndrome

-J-

Job syndrome
- Autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES)
- Buckley syndrome
- Hyperimmunoglobulin E syndrome type 1
- Hyperimmunoglobulin E-recurrent infection syndrome

-K-

Klinefelter syndrome
- 47 XXY syndrome

-L-

Lennox-Gastaut syndrome
Leukodystrophy, metachromatic
- Arylsulfatase A deficiency
Limb girdle muscular dystrophy, type 2A
- Leyden-Moebius pelvofemoral muscular dystrophy
- Calpainopathy

-M-

Mastocytosis
Melanocytic nevus
Moschcowitz syndrome
- Thrombotic thrombocytopenic purpura
- Microangiopathic hemolytic anemia
- Familial thrombotic microangiopathy
- Upshaw-Schulman syndrome
- Schulman-Upshaw syndrome
- Upshaw factor deficiency
- Congenital microangiopathic hemolytic anemia
Mucus viscidosis
- Cystic fibrosis
Multiple sclerosis
- Disseminata sclerosis
Myasthenia gravis
- Erb-Goldflam disease
Myelodysplastic syndromes