Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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 progressive apraxia of speech
Unknown
Adult
Primary pulmonary lymphoma
Not applicable
Adult, Elderly
Primary sclerosing cholangitis
Multigenic/multifactorial
Adolescent, Adult, Childhood, Elderly
Primary unilateral adrenal hyperplasia
Not applicable
All ages
Primitive neuroectodermal tumor of the cervix uteri
Adult
Progeroid and marfanoid aspect-lipodystrophy syndrome
Autosomal dominant
Infancy, Neonatal
Progeroid features-hepatocellular carcinoma predisposition syndrome
Autosomal recessive
Adolescent, Childhood
Progressive autosomal recessive ataxia-deafness syndrome
Autosomal recessive
Adolescent, Childhood, Infancy
Progressive bifocal chorioretinal atrophy
Autosomal dominant
Infancy, Neonatal
Progressive cavitating leukoencephalopathy
Autosomal recessive
Childhood, Infancy
Progressive cerebello-cerebral atrophy
Autosomal recessive
Infancy, Neonatal
Progressive cone dystrophy
Autosomal dominant, Autosomal recessive
Adult
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Autosomal recessive
Infancy, Neonatal
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
Autosomal recessive
Infancy, Neonatal
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Autosomal recessive
Adolescent, Adult
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Autosomal recessive
All ages
Progressive familial intrahepatic cholestasis
Autosomal recessive
Adolescent, Childhood, Infancy, Neonatal