Rare Disease Library

Arterial tortuosity syndrome

ATS

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

Arthrogryposis multiplex congenita

AMC · Multiple congenital arthrogryposis

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Arthrogryposis syndrome

Arthrogryposis-anterior horn cell disease syndrome

AAHD · Vuopala disease

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Arthrogryposis-severe scoliosis syndrome

Distal arthrogryposis type 4 · Distal arthrogryposis type IID

ARX-related encephalopathy-brain malformation spectrum

ARX-related epileptic encephalopathy

Asbestos intoxication

Asbestosis

Ascending aorta anomaly

Ascher syndrome

Blepharochalasis-double lip syndrome

Aseptic abscess syndrome

Aseptic abscesses syndrome · Aseptic systemic abscesses

Asherman syndrome

Aspartylglucosaminuria

Aspartylglucosaminidase deficiency

Aspergillosis

Astley-Kendall dysplasia

Astroblastoma

Astrocytoma

Astrocytic tumor

Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome

Anoctamin-5-related myopathy pseudometabolic phenotype

Ataxia neuropathy spectrum

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

Ataxia-hypogonadism-choroidal dystrophy syndrome

Boucher-Neuhäuser syndrome

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Poretti-Boltshauser syndrome

Ataxia-oculomotor apraxia type 1

AOA1

Ataxia-oculomotor apraxia type 4

AOA4

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

Ataxia-photosensitivity-short stature syndrome

Fenton-Wilkinson-Toselano syndrome

Ataxia-tapetoretinal degeneration syndrome

Ataxia-telangiectasia

Louis-Bar syndrome

Ataxia-telangiectasia variant

v-AT

Ataxia-telangiectasia-like disorder

ATLD

Atelencephaly

Atelencephalic microcephaly

Atelosteogenesis type I

AO1 · AOI

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

Atelosteogenesis type III

AO3 · AOIII

Athabaskan brainstem dysgenesis syndrome

ABSD · Athabascan brainstem dysgenesis syndrome

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

Athyreosis

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

Atopic keratoconjunctivitis

ATP13A2-related parkinsonism