MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Primary non-essential cutis verticis gyrata

ORPHA:357225Kr.

Primary non-gestational choriocarcinoma of ovary

ORPHA:289356Kr.
Unknown

Primary oculocerebral lymphoma

ORPHA:279897Kr.
Not applicable

Primary orthostatic tremor

ORPHA:238606Kr.
Not applicable

Primary pediatric heart tumor

ORPHA:875Kr.
Not applicable

Primary pericardial mesothelioma

ORPHA:685004Kr.

Primary peritoneal carcinoma

ORPHA:168829Kr.
Unknown

Primary progressive apraxia of speech

ORPHA:314566Kr.
Unknown

Primary pulmonary lymphoma

ORPHA:2420Kr.
Not applicable

Primary sclerosing cholangitis

ORPHA:171Kr.
Multigenic/multifactorial

Primary unilateral adrenal hyperplasia

ORPHA:231580Kr.
Not applicable

Primitive neuroectodermal tumor of the cervix uteri

ORPHA:213812Kr.

Progeroid and marfanoid aspect-lipodystrophy syndrome

ORPHA:300382Kr.
Autosomal dominant

Progeroid features-hepatocellular carcinoma predisposition syndrome

ORPHA:435953Kr.
Autosomal recessive

Progressive autosomal recessive ataxia-deafness syndrome

ORPHA:448251Kr.
Autosomal recessive

Progressive bifocal chorioretinal atrophy

ORPHA:75373Kr.
Autosomal dominant

Progressive cavitating leukoencephalopathy

ORPHA:139447Kr.
Autosomal recessive

Progressive cerebello-cerebral atrophy

ORPHA:247198Kr.
Autosomal recessive

Progressive cone dystrophy

ORPHA:1871Kr.
Autosomal dominant, Autosomal recessive

Progressive encephalopathy with leukodystrophy due to DECR deficiency

ORPHA:431361Kr.
Autosomal recessive

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

ORPHA:363400Kr.
Autosomal recessive

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

ORPHA:457212Kr.
Autosomal recessive

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

ORPHA:352447Kr.
Autosomal recessive

Progressive familial intrahepatic cholestasis

ORPHA:172Kr.
Autosomal recessive