Pycnodysostosis

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Pyle disease

Autosomal recessive

Infancy, Neonatal

Pyoderma gangrenosum

Unknown

Adolescent, Adult, Childhood, Elderly

Pyomyositis

Not applicable

All ages

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 dehydrogenase deficiency

Autosomal recessive, Not applicable, X-linked dominant

Childhood, Infancy, Neonatal

Q fever

Not applicable

All ages

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

RARS-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive

Infancy, Neonatal

RAS-associated autoimmune leukoproliferative disease

Unknown

Childhood, Infancy

RELA fusion-positive ependymoma

Adolescent, Adult, Childhood, Infancy

RFT1-CDG

Autosomal recessive

Infancy, Neonatal

RHYNS syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

RNASEH2B-related hereditary spastic paraplegia

Autosomal recessive

Infancy, Neonatal

RNF13-related severe early-onset epileptic encephalopathy

Autosomal dominant

Neonatal

Rabies

Not applicable

All ages

Radiation proctitis

Not applicable

Adult

Ramsay Hunt syndrome

Not applicable

All ages