Rare Disease Library

Bernard-Soulier syndrome

Giant platelet syndrome · Hemorrhagiparous thrombocytic dystrophy

Medich giant platelet syndrome

Medich macrothrombocytopenia

Anti-glomerular basement membrane disease

Anti-GBM syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

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

PHD syndrome · Polyvalvular heart disease syndrome

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Duplication of the pituitary gland

DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gitelman syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Grant syndrome

Gray platelet syndrome

Alpha storage pool deficiency · GPS

Hyperzincemia and hypercalprotectinemia

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

Large/giant congenital melanocytic nevus

LGCMN · Large/giant CMN syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser 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

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

PLACK syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Pierpont syndrome

Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Progressive supranuclear palsy

PSP syndrome

Sweet syndrome

Acute febrile neutrophilic dermatosis

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

White platelet syndrome