Rare Disease Library

Pure or complex hereditary spastic paraplegia

Pure or complex familial spastic paraplegia · Pure or complicated familial spastic paraplegia

Pure or complex X-linked spastic paraplegia

Pure or complicated X-linked spastic paraplegia

Pure squamous carcinoma of the urothelial tract

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pustular pyoderma gangrenosum

Pustulosis palmaris et plantaris

LPP · Localized pustular psoriasis

Pycnodysostosis

Pyknodysostosis

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

PYCR2-related microcephaly-progressive leukoencephalopathy

Pyknoachondrogenesis

Camera syndrome

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Pyoderma gangrenosum

Pyogenic autoinflammatory syndrome

Pyogenic autoinflammatory syndrome of childhood

Pyomyositis

Myositis purulenta tropica · Myositis tropicans

Pyramidal molars-abnormal upper lip syndrome

Ackerman fused molar roots syndrome

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

Pyridoxine-dependent-developmental and epileptic encephalopathy

Antiquitin deficiency · Vitamin B6-dependent seizures

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency type C

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency type A

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate carboxylase deficiency type B

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Pyruvate dehydrogenase E1-beta deficiency

PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency

Pyruvate dehydrogenase E2 deficiency

Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Pyruvate metabolism disorder

Q fever

Coxiellosis · Infection due to Coxiella burnetii

Qazi-Markouizos syndrome

Dysharmonic skeletal maturation-muscular fiber disproportion syndrome

Quadricuspid aortic valve

Qualitative or quantitative defects of alpha-actin

Qualitative or quantitative defects of alpha-dystroglycan

Dystroglycanopathy · Alpha-dystroglycanopathy

Qualitative or quantitative defects of alpha-sarcoglycan

Qualitative or quantitative defects of alphaB-cristallin

Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)

Qualitative or quantitative defects of beta-sarcoglycan

Qualitative or quantitative defects of calpain

Qualitative or quantitative defects of caveolin-3

Caveolinopathy

Qualitative or quantitative defects of collagen 6

Qualitative or quantitative defects of delta-sarcoglycan

Qualitative or quantitative defects of desmin

Qualitative or quantitative defects of dysferlin

Dysferlinopathy

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

Qualitative or quantitative defects of emerin

Qualitative or quantitative defects of filamin C

Qualitative or quantitative defects of FKRP