Rare Disease Library

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature 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

Acrocallosal syndrome

ACS

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Acropectorovertebral dysplasia

F syndrome

Acrorenal syndrome

ADULT syndrome

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

Aicardi syndrome

Agenesis of corpus callosum with chorioretinal abnormality

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy · Alpers syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Alport syndrome

Alport hearing loss-nephropathy · Alport deafness-nephropathy

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

Ascher syndrome

Blepharochalasis-double lip syndrome

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

Atypical hemolytic uremic syndrome

aHUS · atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome with anti-factor H antibodies

aHUS · aHUS with anti-factor H antibodies

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

Atypical hypotonia-cystinuria syndrome

Atypical HCS

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

Atypical Timothy syndrome

ATS · Atypical LQT8

Atypical Werner syndrome

Atypical progeroid syndrome

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

C syndrome

OTCS · Opitz C trigonocephaly

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal 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