Information Centre for Rare Diseases
and Orphan Drugs - Bulgaria

-N-

Narcolepsy
- Gelineau disease
Neuritis, retrobulbar
Neurofibromatosis, type 1
- Von Recklinghausen disease
Niemann-Pick disease
- Sphingomyelinase deficiency
Noonan syndrome
- Male Turner syndrome
- Female Pseudo-Turner syndrome
- Turner phenotype with normal karyotype

-O-

Oculopharyngeal muscular dystrophy
- Barbeau disease
Opsoclonus-myoclonus syndrome
- Opsoclonus-myoclonus-ataxia syndrome
- Dancing eye syndrome
- Kinsbourne syndrome
- Paraneoplastic opsoclonus- myoclonus ataxia
- Dancing eyes-dancing feets syndrome
Orotic aciduria
- Orotidylic decarboxylase deficiency
- Uridine monophosphate synthetase deficiency
Osteogenesis imperfecta
- Lobstein disease

-P-

Paget syndrome
Papillon-Lefevre syndrome
- Hyperkeratosis palmoplantaris with periodontosis
- Keratosis palmoplantaris with periodontopathia
- Palmoplantar keratoderma with periodontosis
Parry–Romberg syndrome
- Progressive hemifacial atrophy
Partial acquired lipodystrophy
- Barraquer-Simons syndrome
Pierre-Marie syndrome
- Menzel syndrome
- Nonne-Marie syndrome
- Sanger Brown syndrome
Porphyrias
Primary pulmonary hypertension
Prader-Willi syndrome
Pulmonary alveolar microlithiasis
Pulmonary alveolar proteinosis
Pseudomyxoma peritonei
- “Jelly belly”
- Malignant large bowel cystadenocarcinoma
- Malignant large bowel peritoneal carcinomatosis
- Mucinous cystadenoma
- Mucinous cyst adenocarcinoma

-R-

Rieger syndrome
- Mesodermal dysgenesis of iris and retina
Rubinstein-Taybi syndrome (RSTS)

-S-

Sarcoidosis
Spastic paraplegia
- Hereditary spastic paraparesis
- Strumpell-Lorrain syndrome
Spina bifida
Stargardt disease
- Juvenile macular dystrophy
Steatocystoma multiplex
- Jamieson disease
Syringocystadenoma papilliferum
- Fistulous vegetative verrucous hydradenoma
Syringomyelia
- Hydromelia
Systematic lupus erythematosus
- Disseminated lupus erythematosus

-T-

T cell immunodeficiency, congenital alopecia, and nail dystrophy
- Severe combined immunodeficiency
Thalassaemia
- Cooley anaemia
- Mediterranean anemia
Tourette syndrome
- Gilles de la Tourette syndrome

-U-

Usher syndrom (USH)
- Retinitis pigmentosa – deafness

-V-

Vitiligo
- White spot disease
- Acquired leukoderma
- Depigmented skin

-W-

Weary-Kindler syndrome
- Acrokeratotic poikiloderma with bullous atrophy
- Kindler syndrome
Wegener granulomatosis
Whipple disease
- Intestinal lipodystrophy
Williams syndrome
Wilson disease
- Hepatolenticular degeneration