Rare Disease Library

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

Pellagra-like skin rash-neurological manifestations syndrome

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Pigmentation anomaly of the skin

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

Pitt-Hopkins syndrome

Postencephalitic parkinsonism

Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments · Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary ciliary dyskinesia

PCD

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Progressive supranuclear palsy-predominant parkinsonism syndrome

PSP-p · PSP-parkinsonism

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

PSP-PAGF · PSP-pure akinesia with gait freezing

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

Rapid-onset dystonia-parkinsonism

DYT12 · Dystonia 12

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

Rare developmental defect with skin/mucosae involvement

Rare genetic hyperkinetic movement disorder

Rare genetic parkinsonian disorder

Rare genetic hypokinetic movement disorder

Rare genetic skin disease

Rare genodermatosis

Rare hyperkinetic movement disorder

Rare parkinsonian disorder

Rare hypokinetic movement disorder

Rare parkinsonian syndrome due to genetic neurodegenerative disease

Rare parkinsonian syndrome due to intoxication

Rare parkinsonian syndrome due to neurodegenerative disease

Rare skin disease

Rare skin tumor or hamartoma

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Skin vascular disease

Staphylococcal scalded skin syndrome

Generalized exfoliative disease · SSSS

Stiff skin syndrome

Systemic disease with skin involvement

T-cell non-Hodgkin lymphoma

T-cell NHL

Tarsal kink syndrome

Thinking epilepsy

Unclassified genetic skin disorder

Wrinkly skin syndrome

WSS · Wrinkled skin syndrome

X-linked dystonia-parkinsonism

DYT3 · Lubag

X-linked fetal akinesia syndrome

Holmes-Benacerraf syndrome

X-linked parkinsonism-spasticity syndrome

XPDS

Young-onset Parkinson disease

Early-onset Parkinson disease · YOPD