Rare Disease Library

OBSOLETE: Amniotic bands

OBSOLETE: ADAM syndrome · OBSOLETE: Amniotic deformity-adhesion-mutilation 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

Acropectorovertebral dysplasia

F syndrome

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ADULT syndrome

Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

C syndrome

OTCS · Opitz C trigonocephaly

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

H 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

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

N syndrome

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

OBSOLETE: Angioosteohypertrophic syndrome

OBSOLETE: Klippel-Trénaunay-Weber syndrome

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

OBSOLETE: ATR-X-related syndrome

OBSOLETE: Atypical teratoid/rhabdoid tumor

OBSOLETE: AT/RT

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly

OBSOLETE: Trueb-Burg-Bottani syndrome

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

OBSOLETE: AymÚ-Gripp syndrome

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome