Rare Disease Library

Adenomatoid tumour of the peritoneum

Adenomatoid tumour of the pleura

Adermatopathic dermatomyositis

Dermatomyositis sine dermatitis

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

ALPI-related inflammatory bowel disease

Amyopathic dermatomyositis

Dermatomyositis sine myositis

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

Angiomatoid fibrous histiocytoma

AFH

Anorectal malformation

ARM

Aortic malformation

Apnea of prematurity

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

Aromatase deficiency

Congenital estrogen deficiency

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

ARX-related encephalopathy-brain malformation spectrum

Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome

Anoctamin-5-related myopathy pseudometabolic phenotype

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

Atypical lichen myxedematosus

Intermediate lichen myxedematosus

Autoimmune/inflammatory optic neuropathy

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

Autoinflammatory syndrome

Autoinflammatory syndrome of childhood

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autoinflammatory syndrome with skin involvement

Autosomal dominant neovascular inflammatory vitreoretinopathy

ADNIV

Autosomal dominant rhegmatogenous retinal detachment

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Biliary atresia with splenic malformation syndrome

BASM syndrome

Biliary tract malformation-renal failure syndrome

Cholestatic jaundice-renal tubular insufficiency syndrome · Lutz-Richner-Landolt syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Blue cone monochromatism

Atypical X-linked achromatopsia · Blue cone monochromacy

Brain arteriovenous malformation

Cerebral arteriovenous malformation

Brain inflammatory disease

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

Bronchial malformation

Capillary malformation-arteriovenous malformation

CM-AVM

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

Carpotarsal osteochondromatosis

Maroteaux-Le Merrer-Bensahel syndrome

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Central nervous system cystic malformation

Central nervous system malformation

Cerebellar malformation

Cerebral malformation with epilepsy

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency