Rare Disease Library

Triple A syndrome

2A syndrome · 3A 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

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

Aggressive primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

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

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Bernard-Soulier syndrome

Giant platelet syndrome · Hemorrhagiparous thrombocytic dystrophy

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

BNAR syndrome

Bifid nose with or without anorectal and renal anomalies

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

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

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

H syndrome

Helsmoortel-Van der Aa syndrome

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

Hereditary acrokeratotic poikiloderma

Weary syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Indolent primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness 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

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A