Rare Disease Library

Progressive myoclonic epilepsy with dystonia

PMED · Progressive myoclonus epilepsy with dystonia

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

Early onset familial encephalopathy with neuroserpin inclusion bodies

Progressive nodular histiocytosis

Progressive non-fluent aphasia

Agramatic variant of PPA · Agramatic variant of primary progressive aphasia

Progressive non-infectious anterior vertebral fusion

PAVF · Copenhagen syndrome

Progressive osseous heteroplasia

Familial ectopic ossification · POH

Progressive polyneuropathy with bilateral striatal necrosis

Progressive pseudorheumatoid dysplasia

PPD · Progressive pseudorheumatoid arthropathy of childhood

Progressive retinal dystrophy due to retinol transport defect

Retinol dystrophy-iris coloboma-comedogenic acne syndrome

Progressive scapulohumeroperoneal distal myopathy

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome · Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Progressive supranuclear palsy

PSP syndrome

Progressive supranuclear palsy-corticobasal syndrome

PSP-CBS · PSP-corticobasal syndrome

Progressive supranuclear palsy-predominant parkinsonism syndrome

PSP-p · PSP-parkinsonism

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-AOS · PSP-PNFA

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

PSP-PAGF · PSP-pure akinesia with gait freezing

Progressive symmetric erythrokeratodermia

Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica

Prolactinoma

Lactotroph adenoma · PRL-secreting pituitary adenoma

Prolidase deficiency

Hyperimidodipeptiduria

Proliferating trichilemmal cyst

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

Properdin deficiency

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

Propylthiouracil embryofetopathy

PTU embryofetopathy · PTU embryopathy

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Protein S acquired deficiency

Proteoglycan-related bone disorder

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Proteus-like syndrome

Protoplasmic astrocytoma

Protracted juvenile CLN3 disease

Protacted neuronal ceroid lipofuscinosis type 3

Proximal 16p11.2 microdeletion syndrome

Proximal del(16)(p11.2) · Proximal monosomy 16p11.2

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

Proximal myopathy with extrapyramidal signs

Proximal myopathy with focal depletion of mitochondria

Proximal renal tubular acidosis

Renal tubular acidosis type 2 · pRTA

Proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

Proximal symphalangism

Symphalangism, Cushing type

Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

PrP systemic amyloidosis

Prion protein systemic amyloidosis · Chronic diarrhea with hereditary sensory and autonomic neuropathy

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

PRUNE1-related neurological syndrome