Rare Disease Library

Multiple benign circumferential skin creases on limbs

CCSF · Congenital circumferential skin folds

Multiple system atrophy, parkinsonian type

MSA, parkinsonian type · MSA-p

Nodular lymphocyte predominant Hodgkin lymphoma

NLPHL

Non-Hodgkin lymphoma

NHL

Non-spherocytic hemolytic anemia due to hexokinase deficiency

OBSOLETE: Glycerol kinase deficiency, infantile form

OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary

OBSOLETE: HIV-related Hodgkin lymphoma

OBSOLETE: HIV-related Non-Hodgkin lymphoma

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency

OBSOLETE: Kinetic eyelid anomaly

OBSOLETE: Laryngeal dyskinesia

OBSOLETE: Laryngeal dystonia · OBSOLETE: Spasmodic dysphonia

OBSOLETE: Levodopa-unresponsive juvenile parkinsonism

OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism

OBSOLETE: Peeling skin syndrome type C

OBSOLETE: Generalized deciduous skin type C · OBSOLETE: Generalized peeling skin syndrome type C

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

OBSOLETE: PEPCK1 deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency

OBSOLETE: PEPCK2 deficiency

OBSOLETE: Pitt-Hopkins-like syndrome

OBSOLETE: Rare sucking/swallowing disorder

OBSOLETE: Secondary ciliary dyskinesia

OBSOLETE: Acquired ciliary dyskinesia

OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly

OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation

OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease

OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome

OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies

OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies

OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies

OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies

OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies

OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome

OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence

OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome

Off-periods in Parkinson disease not responding to oral treatment

Other acquired skin disease

Other metabolic disease with skin involvement

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

Parana hard skin syndrome

Hard skin syndrome, Parana type

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Parkinsonian-pyramidal syndrome

Pallidopyramidal syndrome

Parkinsonism with polyneuropathy

Paroxysmal dyskinesia

Paroxysmal choreoathetosis · Paroxysmal dystonic choreoathetosis

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

Paroxysmal hypnogenic dyskinesia

Nocturnal paroxysmal dystonia · Paroxysmal hypnagogic dyskinesia

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

Paroxysmal non-kinesigenic dyskinesia

Paroxystic non-kinesigenic choreoathetosis

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome