MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Pseudohypoaldosteronism type 2D

ORPHA:300525Etio. sub.
Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2E

ORPHA:300530Etio. sub.
Autosomal dominant

Pseudohypoparathyroidism

ORPHA:97593Cat.
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1A

ORPHA:79443Disease
Autosomal dominant

Pseudohypoparathyroidism type 1B

ORPHA:94089Disease
Autosomal dominant, Not applicable

Pseudohypoparathyroidism type 1C

ORPHA:79444Disease
Autosomal dominant

Pseudohypoparathyroidism type 2

ORPHA:94090Disease
Not applicable

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

ORPHA:457059Clin. grp.

Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976Malform.

Pseudomyogenic hemangioendothelioma

ORPHA:673556Disease

Pseudomyxoma peritonei

ORPHA:26790Disease
Unknown

Pseudopelade of Brocq

ORPHA:129Disease
Not applicable

Pseudoprogeria syndrome

ORPHA:2985Malform.
Unknown

Pseudopseudohypoparathyroidism

ORPHA:79445Disease
Autosomal dominant

Pseudotyphus of California

ORPHA:83316Disease
Not applicable

Pseudoxanthoma elasticum

ORPHA:758Disease
Autosomal recessive

Pseudoxanthoma elasticum-like papillary dermal elastolysis

ORPHA:228293Disease
Not applicable

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

ORPHA:436274Disease
Autosomal recessive

Pseudoxanthomatous diffuse cutaneous mastocytosis

ORPHA:280794Clin. sub.
Not applicable

Psoriasis-related juvenile idiopathic arthritis

ORPHA:85436Disease
Unknown

Psychogenic movement disorders

ORPHA:71519Clinical syndrome
Not applicable

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

ORPHA:505242Disease
Autosomal recessive

Pterin-4 alpha-carbinolamine dehydratase deficiency

ORPHA:1578Clin. sub.
Autosomal recessive

Pterygium colli-intellectual disability-digital anomalies syndrome

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