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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)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Parana hard skin syndrome
Infancy
Paraneoplastic cerebellar degeneration
All ages
Paraneoplastic isolated brainstem encephalitis
All ages
Paraneoplastic neurologic syndrome
Not applicable
All ages
Paraneoplastic pemphigus
Not applicable
All ages
Paraneoplastic uveitis
Adult
Paraparetic variant of Guillain-Barré syndrome
Multigenic/multifactorial, Not applicable
All ages
Paraplegia-intellectual disability-hyperkeratosis syndrome
X-linked recessive
Infancy
Paraquat poisoning
Not applicable
All ages
Parasitic myositis
All ages
Paraspinal arteriovenous malformation
Not applicable
Paratesticular adenocarcinoma
Adult
Parathyroid carcinoma
Not applicable
Adult
Paratyphoid fever
Not applicable
All ages
Parenteral nutrition-associated cholestasis
All ages
Parietal encephalocele
Parietal foramina with clavicular hypoplasia
Autosomal dominant
Infancy, Neonatal
Paris-Trousseau thrombocytopenia
Infancy, Neonatal
Parkes Weber syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
Parkinson-dementia complex of Guam
Parkinsonian-pyramidal syndrome
Autosomal recessive
Adolescent, Adult
Parkinsonism with polyneuropathy
Adult
Paroxysmal cold hemoglobinuria
Multigenic/multifactorial
Childhood
Paroxysmal dyskinesia
Autosomal dominant, Not applicable
Childhood