MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Primary non-essential cutis verticis gyrata

ORPHA:357225Заболевание

Primary non-gestational choriocarcinoma of ovary

ORPHA:289356Заболевание
Unknown

Primary oculocerebral lymphoma

ORPHA:279897Заболевание
Not applicable

Primary orthostatic tremor

ORPHA:238606Заболевание
Not applicable

Primary pediatric heart tumor

ORPHA:875Заболевание
Not applicable

Primary pericardial mesothelioma

ORPHA:685004Заболевание

Primary peritoneal carcinoma

ORPHA:168829Заболевание
Unknown

Primary progressive apraxia of speech

ORPHA:314566Заболевание
Unknown

Primary pulmonary lymphoma

ORPHA:2420Заболевание
Not applicable

Primary sclerosing cholangitis

ORPHA:171Заболевание
Multigenic/multifactorial

Primary unilateral adrenal hyperplasia

ORPHA:231580Заболевание
Not applicable

Primitive neuroectodermal tumor of the cervix uteri

ORPHA:213812Заболевание

Progeroid and marfanoid aspect-lipodystrophy syndrome

ORPHA:300382Заболевание
Autosomal dominant

Progeroid features-hepatocellular carcinoma predisposition syndrome

ORPHA:435953Заболевание
Autosomal recessive

Progressive autosomal recessive ataxia-deafness syndrome

ORPHA:448251Заболевание
Autosomal recessive

Progressive bifocal chorioretinal atrophy

ORPHA:75373Заболевание
Autosomal dominant

Progressive cavitating leukoencephalopathy

ORPHA:139447Заболевание
Autosomal recessive

Progressive cerebello-cerebral atrophy

ORPHA:247198Заболевание
Autosomal recessive

Progressive cone dystrophy

ORPHA:1871Заболевание
Autosomal dominant, Autosomal recessive

Progressive encephalopathy with leukodystrophy due to DECR deficiency

ORPHA:431361Заболевание
Autosomal recessive

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

ORPHA:363400Заболевание
Autosomal recessive

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

ORPHA:457212Заболевание
Autosomal recessive

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

ORPHA:352447Заболевание
Autosomal recessive

Progressive familial intrahepatic cholestasis

ORPHA:172Заболевание
Autosomal recessive