Rare Disease Library

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

Aggressive primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Indolent primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Limb-mammary syndrome

LMS

Marinesco-Sjögren syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

OBSOLETE: Pediatric Sjögren syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Primary Fanconi renotubular syndrome

Primary Fanconi renal syndrome · DeToni-Debré-Fanconi syndrome

Primary hypereosinophilic syndrome

Clonal hypereosinophilic syndrome · HES-M

Primary short bowel syndrome

Primary tethered cord syndrome

Primary tethered spinal cord syndrome

Progressive supranuclear palsy

PSP syndrome

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Sézary syndrome

Sézary lymphoma

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency