Rare Disease Library

Anisakiasis

ANK3-related intellectual disability-sleep disturbance syndrome

Ankyloblepharon filiforme adnatum-cleft palate syndrome

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Aughton-Hufnagle syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Ankylosing vertebral hyperostosis with tylosis

Ankylostomiasis

Ancylostomiasis · Hookworm infection

Annular atrophic lichen planus

Annular atrophic LP

Annular epidermolytic ichthyosis

AEI

Annular erythema of infancy

Annular lichen planus

Annular LP

Annular pancreas

Anoctamin-5-related limb-girdle muscular dystrophy R12

Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD2L

Anodontia

Anomalous aortic origin of coronary artery

AAOCA

Anomalous aortic origin of the left coronary artery

L-ACAOS · Left coronary artery from right aortic sinus

Anomalous aortic origin of the right coronary artery

R-ACAOS · Right coronary artery from left aortic sinus

Anomalous origin of coronary artery from the pulmonary artery

ACAPA

Anomaly of puberty or/and menstrual cycle

Anomaly of puberty or/and menstrual cycle of genetic origin

Anomaly of the coronary ostia

Anomaly of the filum

Anomaly of the mitral subvalvular apparatus

Anomaly of the tricuspid subvalvular apparatus

Anonychia congenita totalis

Anonychia with flexural pigmentation

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Anonychia-onychodystrophy syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

Cassia Stocco dos Santos syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Anorectal malformation

ARM

Anotia

Antecubital pterygium syndrome

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Anterior segment developmental anomaly

Anterior segment dysgenesis

Anterior segment developmental anomaly of genetic origin

Anterior segment developmental anomaly with extraocular manifestations

Anterior segment developmental anomaly without extraocular manifestations

Anterior urethral valve

Anterior uveitis

Iridocyclitis

Anti-glomerular basement membrane disease

Anti-GBM syndrome

Anti-neutrophil cytoplasmic antibody-associated vasculitis

AAV · ANCA-associated vasculitis

Anti-p200 pemphigoid