Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
Autosomal recessive
Infancy, Neonatal
Pyridoxine-dependent-developmental and epileptic encephalopathy
Autosomal recessive
Antenatal, Infancy, Neonatal
Pyruvate carboxylase deficiency
Autosomal recessive, Not applicable
Infancy, Neonatal
Pyruvate carboxylase deficiency, benign type
Autosomal recessive
Infancy
Pyruvate carboxylase deficiency, infantile type
Autosomal recessive
Infancy
Pyruvate carboxylase deficiency, severe neonatal type
Autosomal recessive
Infancy, Neonatal
Pyruvate dehydrogenase E1-alpha deficiency
X-linked dominant
Infancy, Neonatal
Pyruvate dehydrogenase E1-beta deficiency
Autosomal recessive
Childhood
Pyruvate dehydrogenase E2 deficiency
Autosomal recessive
Childhood
Pyruvate dehydrogenase E3 deficiency
Autosomal recessive
Childhood
Pyruvate dehydrogenase E3-binding protein deficiency
Autosomal recessive
Infancy, Neonatal
Pyruvate dehydrogenase deficiency
Autosomal recessive, Not applicable, X-linked dominant
Childhood, Infancy, Neonatal
Pyruvate dehydrogenase phosphatase deficiency
Autosomal recessive
Infancy, Neonatal
Q fever
Not applicable
All ages
QRICH1-related intellectual disability-chondrodysplasia syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
QRSL1-related combined oxidative phosphorylation defect
Autosomal recessive
Antenatal, Infancy, Neonatal
Qazi-Markouizos syndrome
Infancy, Neonatal
Quebec platelet disorder
Autosomal dominant
Adult
Quinquaud folliculitis decalvans
Not applicable
Adult
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
Autosomal dominant, Autosomal recessive
Infancy
RAPADILINO syndrome
Autosomal recessive
Infancy, Neonatal
RARS-related autosomal recessive hypomyelinating leukodystrophy
Autosomal recessive
Infancy, Neonatal
RAS-associated autoimmune leukoproliferative disease
Unknown
Childhood, Infancy
RASA1-related capillary malformation-arteriovenous malformation
Autosomal dominant