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  • N – Z

    Print | Thursday 12 January 2012 | 17,986 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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