Rare Disease Library

Alagille syndrome

Alagille-Watson syndrome · Arteriohepatic dysplasia

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

Alagille syndrome due to a JAG1 point mutation

Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation

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

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Nelson syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

Sillence syndrome

Brachydactyly-symphalangism syndrome

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Tuberous sclerosis complex

Bourneville disease · Bourneville syndrome

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion