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Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
7,547
Заболевания
4,552
Гены
8,700
Фенотипы
140
Регионы
Все (7,547)БиоаномалияКатегорияКлиническая группаКлинический подтипClinical syndromeЗаболеваниеЭтиологический подтипГистопатологический подтипПорок развитияМорфологическая аномалияКлиническая ситуация
Primary melanoma of the central nervous system
Adult
Primary membranoproliferative glomerulonephritis
Not applicable
Adult
Primary membranous glomerulonephritis
Adult
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Autosomal recessive
Neonatal
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Autosomal recessive
Adolescent, Childhood
Primary myelofibrosis
Not applicable
Adult
Primary non-essential cutis verticis gyrata
Adolescent, Childhood, Infancy, Neonatal
Primary non-gestational choriocarcinoma of ovary
Unknown
Adolescent
Primary oculocerebral lymphoma
Not applicable
Adult
Primary orthostatic tremor
Not applicable
Adult
Primary pediatric heart tumor
Not applicable
Childhood
Primary pericardial mesothelioma
Primary peritoneal carcinoma
Unknown
Adult
Primary plasmacytoma of the bone
Primary polyarteritis nodosa
Not applicable
Primary progressive aphasia
Multigenic/multifactorial, Not applicable
Adult
Primary progressive apraxia of speech
Unknown
Adult
Primary progressive freezing gait
Unknown
Adult
Primary pulmonary hypoplasia
Neonatal
Primary pulmonary lymphoma
Not applicable
Adult, Elderly
Primary sclerosing cholangitis
Multigenic/multifactorial
Adolescent, Adult, Childhood, Elderly
Primary systemic amyloidosis
Not applicable
Primary tethered cord syndrome
Infancy, Neonatal
Primary triglyceride deposit cardiomyovasculopathy
Autosomal recessive
Adult