Rare Disease Library

Aortic arch interruption

Aortic dilatation-joint hypermobility-arterial tortuosity syndrome

Aortic malformation

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Kosztolanyi syndrome

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

Arterial dissection-lentiginosis syndrome

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

ARX-related encephalopathy-brain malformation spectrum

Asbestos intoxication

Asbestosis

Ataxia-tapetoretinal degeneration syndrome

Atrial septal defect-atrioventricular conduction defects syndrome

Atrichia with papular lesions

Papular atrichia

Atypical Norrie disease due to Xp11.3 microdeletion

Atypical Norrie disease due to del(X)(p11.3) · Atypical Norrie disease due to nullisomy Xp11.3

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

CMT2 due to DGAT2 mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

CMT2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

CMT2 due to TFG mutation

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Autosomal dominant progressive nephropathy with hypertension

Autosomal dominant slowed nerve conduction velocity

Autosomal dominant striatal neurodegeneration

ADSD

Autosomal dominant thrombocytopenia with platelet secretion defect

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81

Azygos continuation of the inferior vena cava

Azygos continuation of the IVC · Azygos continuation of the inferior caval vein

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

BAP1-related tumor predisposition syndrome

Tumor susceptibility linked to germline BAP1 mutations

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Beckwith-Wiedemann syndrome due to 11p15 microduplication

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Bifunctional enzyme deficiency

Bilateral acute depigmentation of the iris

BADI

Bilateral diffuse uveal melanocytic proliferation disease

BDUMP · Paraneoplastic uveal melanocytic hyperplasia

Bile acid CoA ligase deficiency and defective amidation

Bile acid synthesis defect with cholestasis and malabsorption

Biliary atresia with splenic malformation syndrome

BASM syndrome

Biliary tract malformation-renal failure syndrome

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

Biological anomaly without phenotypic characterization