Osteogenesis imperfecta is a hereditary connective tissue disease characterized by incomplete bone formation with increased brittleness.
Orofaciodigital syndrome type 4 (OFD4) is characterized by tongue hamartoma, postaxial polysyndactyly, mesomelic shortening of the legs and pes equinovarus.
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 (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 (OFD1) is a rare neuronal developmental disorder of the ciliary pathology group.
Onychauxis is a thickening of the nail of the fingers or toes without deformity.
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 is a very rare congenital skeletal dysplasia.
Key features of N-syndrome include malformations, ocular abnormalities, deafness, cryptorchidism, T-cell leukemia, hypospadias and spastic cerebral palsy.
Norrie disease is a dysplasia of the vitreous and retina. Due to its X-linked, recessive inheritance, female carriers remain symptom-free.
Nipah disease is a zoonotic disease triggered by the Nipah virus that has only recently been discovered.
The Nievergelt syndrome is a rare bone disease that belongs to the mesosomal dysplasia.
Renal cell carcinoma is a malignant tumor that arises from the renal tubular cells.
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurodegenerative disease.
Non-tuberculous mycobacteria (NTM or MOTT) are a term for all mycobacteria that cause neither tuberculosis nor leprosy.
Non-24-hour sleep-wake syndrome is a rare circadian rhythm disorder.
Neutropenia refers to the lack of peripherally circulating neutrophilic granulocytes.
Neuronal ceroid lipofuscinosis is a group of inherited progressive degenerative brain diseases.
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, 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.