Filtering
- Autoimmune Retinopathy
- Autosomal Dominant Cerebellar Ataxia
- Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy
- Autosomal Dominant Distal Renal Tubular Acidosis
- Autosomal Dominant Hyper IgE Syndrome
- Autosomal Dominant Multiple Pterygium Syndrome
- Autosomal Dominant Partial Epilepsy With Auditory Features
- Autosomal Dominant Tubulointerstitial Kidney Disease
- Autosomal Recessive Axonal Neuropathy With Neuromyotonia
- Autosomal Recessive Hyper IgE Syndrome
- Autosomal Recessive Juvenile Parkinson Disease
- Autosomal Recessive Polycystic Kidney Disease
- Autosomal Recessive Spastic Ataxia 4
- Autosomal Recessive Spastic Paraplegia Type 49
- Autosomal Recessive Spinocerebellar Ataxia 9
- Axenfeld-Rieger Syndrome
- Babesiosis
- Bacterial Meningitis
- Baetz-Greenwalt Syndrome
- Bainbridge-Ropers Syndrome
- Balkan Endemic Nephropathy
- Bannayan-Riley-Ruvalcaba Syndrome
- BAP1 Tumor Predisposition Syndrome
- Bardet-Biedl Syndrome
- Bardet-Biedl Syndrome 1
- Bardet-Biedl Syndrome 2
- Bardet-Biedl Syndrome 10
- Bardet-Biedl Syndrome 11
- Bardet-Biedl Syndrome 12
- Bare Lymphocyte Syndrome
- Bare Lymphocyte Syndrome 2
- Baroreflex Failure
- Barth Syndrome
- Bartter Syndrome
- Basal Cell Carcinoma, Multiple
- B-cell Lymphoma
- B Cell Prolymphocytic Leukemia
- Becker Muscular Dystrophy
- Beckwith-Wiedemann Syndrome
- Behçet Disease
- Behavioral Variant of Frontotemporal Dementia
- Bell's Palsy
- Benign Autosomal Dominant Myopathy
- Benign Essential Blepharospasm
- Benign Paroxysmal Positional Vertigo
- Benign Rolandic Epilepsy (BRE)
- Beriberi
- Beryllium Disease
- Best Vitelliform Macular Dystrophy
- Beta-galactosidase-1 Deficiency
- Beta-Propeller Protein-Associated Neurodegeneration
- Beta-thalassemia
- Bethlem Myopathy
- Biemond Syndrome
- Bietti Crystalline Corneoretinal Dystrophy
- Bile Duct Cancer
- Bile Duct Cysts
- Biliary Atresia
- Biliary Atresia Intrahepatic Syndromic Form
- Biliary Tract Cancer
- Binswanger's Disease
- Biotinidase Deficiency
- Birdshot Chorioretinopathy
- Birt-Hogg-Dube Syndrome
- BK-virus Nephropathy
- Blastic Plasmacytoid Dendritic Cell
- Blastomycosis
- Bloom Syndrome
- Blue Rubber Bleb Nevus Syndrome
- Bohring-Opitz Syndrome
- Botulism
- Bowen's Disease
- Brain Tumor, Adult
- Brain Tumor, Childhood
- BRCA1 Hereditary Breast and Ovarian Cancer Syndrome
- Breast Cancer, Male
- Brenner Tumor of Ovary
- Brittle Cornea Syndrome
- Brittle Diabetes
- Broken Heart Syndrome
- Bronchial Adenomas/carcinoids Childhood
- Bronchiolitis Obliterans
- Bronchiolitis Obliterans Organizing Pneumonia
- Bronchopulmonary Dysplasia
- Brown-Sequard Syndrome
- Brown Syndrome
- Brucellosis
- Brugada Syndrome
- Bubonic Plague
- Budd-Chiari Syndrome
- Buerger Disease
- Bullous Pemphigoid
- Burkitt Lymphoma
- Buruli Ulcer
- CADASIL
- Calciphylaxis
- Camurati-Engelmann Disease
- Canavan Disease
- Candida Glabrata
- CANDLE Syndrome
- Capillary Malformation-arteriovenous Malformation Syndrome
- Carbamoyl Phosphate Synthetase 1 Deficiency
- Carcinoid Syndrome
- Carcinoid Tumor
- Cardiac Rupture
- Cardiofaciocutaneous Syndrome
- Cardiomyopathy Due to Anthracyclines
- Cardiospasm
- Carney Complex
- Carnitine Palmitoyltransferase 2 Deficiency
- Caroli Disease
- Carotid Body Tumor
- Carpenter Syndrome
- Cartilage-hair Hypoplasia
- Castleman Disease
- Catastrophic Antiphospholipid Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Cat Scratch Disease
- Cauda Equina Syndrome
- Caudal Regression Sequence
- CD4 Deficiency
- CDKL5 Deficiency Disorder
- Central Centrifugal Cicatricial Alopecia
- Central Congenital Hypothyroidism
- Central Core Disease
- Central Diabetes Insipidus
- Central Nervous System Germinoma
- Central Neurocytoma
- Central Pain Syndrome
- Central Serous Chorioretinopathy
- Centronuclear Myopathy
- Cerebellar Astrocytoma, Childhood
- Cerebellar Ataxia and Hypogonadotropic Hypogonadism
- Cerebellar Ataxia Ectodermal Dysplasia
- Cerebellar Degeneration
- Cerebellar Hypoplasia
- Cerebellar Liponeurocytoma
- Cerebral Astrocytoma, Childhood
- Cerebral Palsy Ataxic
- Cerebral Palsy Athetoid
- Cerebral Palsy Spastic Hemiplegic
- Cerebrospinal Fluid Leak
- Cerebrotendinous Xanthomatosis
- Cervical Dystonia
- Cervical Intraepithelial Neoplasia
- Chanarin-Dorfman Syndrome
- Chandler's Syndrome
- Chaotic Atrial Tachycardia
- Charcot-Marie-Tooth Disease
- Charcot-Marie-Tooth Disease Type 1
- Charcot-Marie-Tooth Disease Type 1A
- Charcot-Marie-Tooth Disease Type 1B
- Charcot-Marie-Tooth Disease Type 2
- Charcot-Marie-Tooth Disease Type 2A
- CHARGE Syndrome
- Charles Bonnet Syndrome
- CHD2 Myoclonic Encephalopathy
- Chediak-Higashi Syndrome
- Cherubism
- Chiari Malformation Type 2
- Chikungunya
- Childhood Acute Lymphoblastic Leukemia
- Childhood Apraxia of Speech
- Childhood Brain Stem Glioma
- Childhood Disintegrative Disorder
- Childhood Hepatocellular Carcinoma
- Childhood Hypophosphatasia
- Childhood-Onset Schizophrenia
- Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
- Children's Interstitial Lung Disease
- CHILD Syndrome
- Cholecystitis
- Cholera
- Cholesteatoma
- Cholesteryl Ester Storage Disease
- Chondroblastoma
- Chondrodysplasia Punctata Syndrome
- Chondroma
- Chondrosarcoma
- Chordoid Glioma of the Third Ventricle
- Chordoma
- Chorea-acanthocytosis
- Choriocarcinoma
- Chorioretinitis
- Choroideremia
- Choroiditis
- Choroid Plexus Carcinoma
- Choroid Plexus Papilloma
- Chromophil Renal Cell Carcinoma
- Chromophobe Renal Cell Carcinoma
- Chromosomal Triplication
- Chromosome 1p36 Deletion Syndrome
- Chromosome 1q21.1 Duplication Syndrome
- Chromosome 3q29 Microduplication Syndrome
- Chromosome 5q Deletion
- Chromosome 7q Duplication
- Chromosome 9p Deletion
- Chromosome 15q Duplication
- Chromosome 17p Deletion
- Chronic Active Epstein-Barr Virus Infection