Rare Disease Library

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital 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

AIDS wasting syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy 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

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Chandler syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Cholestasis-lymphedema syndrome

Aagenaes syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Helsmoortel-Van der Aa syndrome

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

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Hurler syndrome

Hurler disease · MPS1H

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

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

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

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

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Progeroid features-hepatocellular carcinoma predisposition syndrome

HCC · Hepatocellular carcinoma

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stimmler 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

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

W syndrome

Pallister-W syndrome

Waardenburg syndrome

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

WAGR syndrome

Del(11)(p13) · Deletion 11p13