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    N – Z

    Print | Thursday 12 January 2012 | 8,963 views

    -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


    
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