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

Pseudotyphus of California

ORPHA:83316Kr.
Not applicable

Pseudoxanthoma elasticum

ORPHA:758Kr.
Autosomal recessive

Pseudoxanthoma elasticum-like papillary dermal elastolysis

ORPHA:228293Kr.
Not applicable

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

ORPHA:436274Kr.
Autosomal recessive

Psoriasis-related juvenile idiopathic arthritis

ORPHA:85436Kr.
Unknown

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

ORPHA:505242Kr.
Autosomal recessive

Pudendal nerve entrapment syndrome

ORPHA:60039Kr.
Not applicable

Pulmonary alveolar microlithiasis

ORPHA:60025Kr.
Autosomal recessive, Not applicable

Pulmonary blastoma

ORPHA:64741Kr.
Multigenic/multifactorial

Pulmonary capillary hemangiomatosis

ORPHA:199241Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

ORPHA:210136Kr.
Unknown

Pulmonary interstitial glycogenosis

ORPHA:217557Kr.
Not applicable

Pulmonary nodular lymphoid hyperplasia

ORPHA:60026Kr.

Pulmonary non-tuberculous mycobacterial infection

ORPHA:411703Kr.
Not applicable

Pulmonary venoocclusive disease

ORPHA:31837Kr.
Autosomal recessive, Not applicable

Punctate acrokeratoderma freckle-like pigmentation

ORPHA:99710Kr.

Punctate inner choroidopathy

ORPHA:580951Kr.

Punctate palmoplantar keratoderma type 1

ORPHA:79501Kr.
Autosomal dominant

Punctate palmoplantar keratoderma type 2

ORPHA:79502Kr.
Autosomal dominant

Pure autonomic failure

ORPHA:441Kr.
Not applicable

Pure mitochondrial myopathy

ORPHA:254854Kr.
Mitochondrial inheritance

Pure squamous carcinoma of the urothelial tract

ORPHA:695023Kr.
Not applicable

Purine nucleoside phosphorylase deficiency

ORPHA:760Kr.
Autosomal recessive

Pustulosis palmaris et plantaris

ORPHA:163927Kr.
Autosomal dominant, Autosomal recessive