Rare Disease Library

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

ABCD syndrome

Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Al-Gazali-Dattani syndrome

Alagille syndrome

Alagille-Watson syndrome · Arteriohepatic dysplasia

Alazami syndrome

Microcephalic primordial dwarfism, Alazami type

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy · Alpers syndrome

Alport syndrome

Alport hearing loss-nephropathy · Alport deafness-nephropathy

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Alström syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Anti-glomerular basement membrane disease

Anti-GBM syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Eye defects-arachnodactyly-cardiopathy syndrome

Al Gazali-Al Talabani syndrome · Al Gazali-Lytle syndrome

Gaisböck syndrome

Stress erythrocytosis · Stress polycythemia

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gardner syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal 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

Helsmoortel-Van der Aa syndrome

ADNP-related syndromic intellectual disability-autism spectrum disorder · ADNP-related Helsmoortel-Van der Aa syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Lymphedema with yellow nails

Yellow nail syndrome · YNS

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Nevo syndrome

Cerebral gigantism, Nevo type

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia