Rare Disease Library

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

KAT6A syndrome · Arboleda-Tham syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

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

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Acropectorovertebral dysplasia

F syndrome

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

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes 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

C syndrome

OTCS · Opitz C trigonocephaly

CANOMAD syndrome

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Gorham-Stout disease

Gorham disease · Gorham syndrome

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

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

IRIDA syndrome

Iron-refractory iron deficiency anemia

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

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

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

N syndrome

OBSOLETE: Amniotic bands

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

Oley syndrome

Congenital hypotrichosis-milia syndrome

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

OSLAM syndrome

Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Superior limbic keratoconjunctivitis

SLK · Theodore superior limbic keratoconjunctivitis

TAFRO syndrome

Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome