Rare Disease Library

Avascular necrosis

AVN

Avascular necrosis of genetic origin

Avian influenza

Axenfeld anomaly

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Axial mesodermal dysplasia spectrum

Blastogenesis defect · Russell-Weaver-Bull syndrome

Axial spondylometaphyseal dysplasia

AXIN2-related polyposis

AXIN2-related adenomatous polyposis

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

Aymé-Gripp syndrome

Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome

Azygos continuation of the inferior vena cava

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

B-cell chronic lymphocytic leukemia

B-cell chronic lymphoid leukemia · B-CLL

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

B-cell non-Hodgkin lymphoma

B-cell NHL

B-cell prolymphocytic leukemia

B-PLL

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

B-lymphoblastic leukemia/lymphoma with hypodiploidy

Hypodiploid ALL

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)

B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1

B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 · B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

B-lymphoblastic leukemia/lymphoma with t(17;19)

B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH

B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)

B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

B-ALL with t(9;22)(q34.1;q11.2) · Philadelphia chromosome-like B-ALL

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged · B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

Babesiosis

Bacterial myositis

Bacterial toxic-shock syndrome

Bacterial TSS

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

Bainbridge-Ropers syndrome

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Balantidiasis

Balantidiosis · Ciliary dysentery

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Baller-Gerold syndrome

Baló concentric sclerosis

Concentric demyelination

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

Bangstad syndrome

Ataxia-diabetes-goiter-gonadal insufficiency syndrome

Banki syndrome

Bannayan-Riley-Ruvalcaba syndrome

BRRS · Myhre-Riley-Smith syndrome

BAP1-related tumor predisposition syndrome

Tumor susceptibility linked to germline BAP1 mutations

Baraitser-Winter cerebrofrontofacial syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Bardet-Biedl syndrome

BBS

Baroreflex failure

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS