Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Pseudohypoaldosteronism type 2D
Autosomal dominant, Autosomal recessive
Pseudohypoaldosteronism type 2E
Autosomal dominant
Pseudohypoparathyroidism
Autosomal dominant, Not applicable
All ages
Pseudohypoparathyroidism type 1A
Autosomal dominant
Childhood, Infancy, Neonatal
Pseudohypoparathyroidism type 1B
Autosomal dominant, Not applicable
Adolescent, Childhood, Infancy, Neonatal
Pseudohypoparathyroidism type 1C
Autosomal dominant
Childhood, Infancy, Neonatal
Pseudohypoparathyroidism type 2
Not applicable
All ages
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Childhood, Infancy, Neonatal
Pseudoleprechaunism syndrome, Patterson type
Antenatal, Neonatal
Pseudomyogenic hemangioendothelioma
Pseudomyxoma peritonei
Unknown
Adult
Pseudopelade of Brocq
Not applicable
Adult
Pseudoprogeria syndrome
Unknown
Infancy, Neonatal
Pseudopseudohypoparathyroidism
Autosomal dominant
All ages
Pseudotyphus of California
Not applicable
All ages
Pseudoxanthoma elasticum
Autosomal recessive
All ages
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Not applicable
Adult
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Autosomal recessive
Adolescent, Adult, Childhood
Pseudoxanthomatous diffuse cutaneous mastocytosis
Not applicable
Infancy, Neonatal
Psoriasis-related juvenile idiopathic arthritis
Unknown
Adolescent, Childhood
Psychogenic movement disorders
Not applicable
Adolescent, Adult, Childhood, Elderly
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Autosomal recessive
Infancy
Pterin-4 alpha-carbinolamine dehydratase deficiency
Autosomal recessive
Neonatal
Pterygium colli-intellectual disability-digital anomalies syndrome
Autosomal dominant, X-linked dominant
Neonatal