MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Pseudohypoaldosteronism type 2D

ORPHA:300525Ätl. subt.
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2E

ORPHA:300530Ätl. subt.
Autosomal dominant

Pseudohypoparathyroidism

ORPHA:97593Kat.
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1A

ORPHA:79443Kr.
Autosomal dominant

Pseudohypoparathyroidism type 1B

ORPHA:94089Kr.
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1C

ORPHA:79444Kr.
Autosomal dominant

Pseudohypoparathyroidism type 2

ORPHA:94090Kr.
Not applicable

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

ORPHA:457059Kl. gruppe

Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976Malf.

Pseudomyogenic hemangioendothelioma

ORPHA:673556Kr.

Pseudomyxoma peritonei

ORPHA:26790Kr.
Unknown

Pseudopelade of Brocq

ORPHA:129Kr.
Not applicable

Pseudoprogeria syndrome

ORPHA:2985Malf.
Unknown

Pseudopseudohypoparathyroidism

ORPHA:79445Kr.
Autosomal dominant

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

Pseudoxanthomatous diffuse cutaneous mastocytosis

ORPHA:280794Kl. subt.
Not applicable

Psoriasis-related juvenile idiopathic arthritis

ORPHA:85436Kr.
Unknown

Psychogenic movement disorders

ORPHA:71519Clinical syndrome
Not applicable

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

ORPHA:505242Kr.
Autosomal recessive

Pterin-4 alpha-carbinolamine dehydratase deficiency

ORPHA:1578Kl. subt.
Autosomal recessive

Pterygium colli-intellectual disability-digital anomalies syndrome

ORPHA:2988Malf.
Autosomal dominant, X-linked dominant