Pseudoxanthomatous diffuse cutaneous mastocytosis

Not applicable

Infancy, Neonatal

Pterin-4 alpha-carbinolamine dehydratase deficiency

Autosomal recessive

Neonatal

Pulmonary Langerhans cell histiocytosis

Not applicable

Pulverulent cataract

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Pustular pyoderma gangrenosum

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly

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 phosphatase deficiency

Autosomal recessive

Infancy, Neonatal

REN-related autosomal dominant tubulointerstitial kidney disease

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

RFVT2-related riboflavin transporter deficiency

Autosomal recessive

Childhood, Infancy

RFVT3-related riboflavin transporter deficiency

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Renal agenesis, bilateral

Autosomal recessive

Antenatal, Neonatal

Renal agenesis, unilateral

Autosomal dominant

All ages, Antenatal

Renal dysplasia, bilateral

Autosomal dominant, Not applicable

All ages

Renal dysplasia, unilateral

Autosomal dominant, Not applicable

All ages

Renal hypoplasia, bilateral

Autosomal dominant, Not applicable

All ages

Renal hypoplasia, unilateral

Not applicable

All ages

Renal pseudohypoaldosteronism type 1

Autosomal dominant

Infancy, Neonatal