• Osteogenesis imperfecta

    Osteogenesis imperfecta is a hereditary connective tissue disease characterized by incomplete bone formation with increased brittleness.

  • Orofaciodigital syndrome type 4

    Orofaciodigital syndrome type 4 (OFD4) is characterized by tongue hamartoma, postaxial polysyndactyly, mesomelic shortening of the legs and pes equinovarus.

  • Orofaciodigital syndrome type 3

    Orofaciodigital syndrome type 3 (OFD3) is a very rare autosomal recessive disease characterized by oral, ophthalmological, finger malformation and severe intellectual deficit.

  • Orofaciodigital syndrome type 2

    Orofaciodigital syndrome type 2 (OFD2) is a very rare autosomal recessive inherited dysmorphic syndrome characterized by a combination of deformities of the hand and foot, facial anomalies, upper cleft lip and hamartomas of the tongue.

  • Orofaciodigital syndrome type 1

    Orofaciodigital syndrome type 1 (OFD1) is a rare neuronal developmental disorder of the ciliary pathology group.

  • Onychauxis

    Onychauxis is a thickening of the nail of the fingers or toes without deformity.

  • Oculocerebral hypopigmentation syndrome

    The oculocerebral hypopigmentation syndrome type Cross is a rare congenital syndrome characterized by poor skin and eye pigmentation, various ocular abnormalities, dwarfism and mental retardation, and progressive neurological deficits.

  • Odonto-chondrodysplasia

    Odonto chondrodysplasia is a very rare congenital skeletal dysplasia.

  • N syndrome

    Key features of N-syndrome include malformations, ocular abnormalities, deafness, cryptorchidism, T-cell leukemia, hypospadias and spastic cerebral palsy.

  • Norrie disease

    Norrie disease is a dysplasia of the vitreous and retina. Due to its X-linked, recessive inheritance, female carriers remain symptom-free.

  • Nipah virus disease

    Nipah disease is a zoonotic disease triggered by the Nipah virus that has only recently been discovered.

  • Nievergelt syndrome

    The Nievergelt syndrome is a rare bone disease that belongs to the mesosomal dysplasia.

  • Renal cell carcinoma

    Renal cell carcinoma is a malignant tumor that arises from the renal tubular cells.

  • Niemann-Pick disease type C

    Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurodegenerative disease.

  • Non-tuberculous mycobacteria

    Non-tuberculous mycobacteria (NTM or MOTT) are a term for all mycobacteria that cause neither tuberculosis nor leprosy.

  • Non-24-hour sleep-wake syndrome

    Non-24-hour sleep-wake syndrome is a rare circadian rhythm disorder.

  • Neutropenia

    Neutropenia refers to the lack of peripherally circulating neutrophilic granulocytes.

  • Neuronal ceroid lipofuscinosis

    Neuronal ceroid lipofuscinosis is a group of inherited progressive degenerative brain diseases.

  • Neuronal ceroid lipofuscidosis type 2

    Neuronal ceroid lipofuscidosis type 2 (CLN2) is an autosomal recessive, neurodegenerative brain disease, belongs to the group of neuronal ceroid lipofuscinoses (NCL) and is a form of Batten disease.

  • Neuroectodermal melanolysosomal disease

    Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome (ES), is defined by dull, silvery hair, bronze staining of the sun-exposed skin, and severe neurological deficits in the patients.

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