C
- CACH Syndrome
- CACT deficiency
- CADASIL
- CAH
- CAHMR Syndrome
- CANOMAD Syndrome
- CAS
- CASK genetic mutation
- CASK-related disorders
- CATC2
- CBD
- CC
- CCA Syndrome
- CCGE Syndrome
- CCTGA
- CDG 2L
- CDG syndrome
- CDG-x
- CDG1
- CDGS2
- CDK13-Related Disorder
- CDK4 Linked Melanoma
- CDKL5
- CDKL5 deficiency
- CDKL5 deficiency disorder
- CDKL5 disorder
- CDKL5-related disorder
- CDLS
- Cabezas syndrome
- Cafe-Au-Lait Macules with Pulmonary
- Calcifying Epithelial Odontogenic Tumor
- Calciphylaxis
- Calloso-Genital Dysplasia
- Calvarial Hyperostosis
- Camera Marugo Cohen Syndrome
- Campomelia Cumming Type
- Campomelic Dysplasia
- Camptobrachydactyly
- Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome
- Camptodactyly Syndrome Guadalajara Type 1
- Camptodactyly Syndrome Guadalajara Type 2
- Camptodactyly Syndrome Guadalajara Type 3
- Camptodactyly Taurinuria
- Camptodactyly Vertebral Fusion
- Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
- Camptodactyly, Tall Stature, and Hearing Loss Syndrome
- Camptodactyly-Ichthyosis Syndrome
- Camptomelic Syndrome Long Limb Type
- Camptomelic dysplasia
- Camurati Engelmann Disease
- Camurati Engelmann Disease, Type 2
- Camurati Engelmann disease type II
- Camurati-Engelmann Disease
- Canavan Disease
- Cancer of unknown primary
- Cancer, Head and Neck
- Cancer, Ovarian
- Cap disease
- Cap myopathy
- Capillary Hemangioblastoma
- Carbamoyl Phosphate Synthetase 1 Deficiency
- Carbamyl Phosphate Synthetase Deficiency
- Carbohydrate Deficient Glycoprotein Syndrome
- Carbohydrate-deficient glycoprotein syndrome type II
- Carcinoid Syndrome
- Carcinoid Tumor Childhood
- Carcinoid tumor
- Carcinoma of unknown primary
- Cardiac Diverticulum
- Cardiac angiosarcoma
- Cardiac anomalies-developmental delay-facial dysmorphism syndrome
- Cardioauditory Syndrome of Sanchez Cascos
- Cardiocranial Syndrome
- Cardiofaciocutaneous Syndrome
- Cardiogenic shock
- Cardiomegaly
- Cardiomyopathy Cataract Hip Spine Disease
- Cardiomyopathy Dilated with Conduction Defect Type 1
- Cardiomyopathy Dilated with Conduction Defect Type 2
- Cardiomyopathy Dilated with Woolly Hair and Keratoderma
- Cardiomyopathy Hypogonadism Collagenoma Syndrome
- Cardiomyopathy Hypogonadism Metabolic Anomalies
- Cardiomyopathy Spherocytosis
- Cardiomyopathy and Deafness due to tRNA Lysine Gene Mutation
- Cardioskeletal Syndrome Kuwaiti Type
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardiospasm
- Carnevale Hernandez Castillo Syndrome
- Carnevale Syndrome
- Carney Complex
- Carnitine Almitoyltransferase I Deficiency, Muscle
- Carnitine Deficiency
- Carnitine Palmitoyl Transferase 2 Deficiency
- Carnitine Palmitoyltransferase Deficiency Type 2
- Carnitine acetyltransferase deficiency
- Carnitine acylcarnitine translocase deficiency
- Carnitine palmitoyltransferase 2 deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase IA deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine palmitoyltransferase II deficiency, lethal neonatal
- Carnitine transporter deficiency
- Carnitine uptake defect
- Carnitine uptake deficiency
- Carnitine-Acylcarnitine Translocase Deficiency
- Carnitine-acylcarnitine carrier deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Caroli Disease
- Carotid body tumor
- Carpal Deformity Migrognathia Microstomia
- Carpenter Syndrome
- Carpo Tarsal Osteolysis Recessive
- Carpotarsal Osteochondromatosis
- Cartilage-Hair Hypoplasia
- Caspase-8 Deficiency
- Castleman's Disease
- Cat Eye Syndrome
- Cat Scratch Disease
- Cat cry syndrome
- Catalase deficiency
- Catamenial Pneumothorax
- Cataract Anterior Polar Dominant
- Cataract Ataxia Deafness
- Cataract Hypertrichosis Mental Retardation
- Cataract Mental Retardation Hypogonadism
- Cataract Microcornea Syndrome
- Cataract Microphthalmia Septal Defect
- Cataract and Cardiomyopathy
- Cataract and Congenital Ichthyosis
- Cataract, Alopecia, Sclerodactyly
- Cataract, Autosomal Recessive Congenital 2
- Cataract, Congenital, with Microcornea or Slight Microphthalmia
- Cataract-Microcephaly-Failure to Thrive-Kyphoscoliosis
- Cataract-deafness-hypogonadism syndrome
- Cataracts, Ataxia, Short Stature, and Mental Retardation
- Catastrophic Antiphospholipid Syndrome
- Catatrichy
- Catecholaminergic polymorphic ventricular tachycardia
- Catel Manzke Syndrome
- Caudal Duplication
- Caudal Regression
- Caudal Regression Syndrome
- Cavernous Lymphangioma
- Cayler Cardiofacial Syndrome
- CblJ defects
- Central Core Disease
- Central Nervous System Lymphoma, Primary
- Central Neurocytoma
- Central Serous Chorioretinopathy
- Central areolar choroidal dystrophy
- Central post-stroke pain
- Centromeric Instability Immunodeficiency Syndrome
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- Centronuclear myopathy
- Centrotemporal Epilepsy
- Ceramide Trihexosidosis
- Cercarial Dermatitis
- Cerebellar Agenesis
- Cerebellar Astrocytoma, Childhood
- Cerebellar Ataxia Ectodermal Dysplasia
- Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia
- Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss
- Cerebellar Ataxia, Dominant Pure
- Cerebellar Degeneration
- Cerebellar Degeneration, Subacute
- Cerebellar Hypoplasia Tapetoretinal Degeneration
- Cerebellar Hypoplasia with Endosteal Sclerosis
- Cerebellar Liponeurocytoma
- Cerebellar Parenchymal Degeneration
- Cerebellar ataxia early-onset nonprogressive
- Cerebellar vermis aplasia
- Cerebello-oculo-renal syndrome
- Cerebelloparenchymal Disorder 3
- Cerebellotrigeminal-dermal dysplasia syndrome
- Cerebellotrigerminal dermal dysplasia
- Cerebellum Agenesis Hydrocephaly
- Cerebral Aneurysm
- Cerebral Astrocytoma, Childhood
- Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
- Cerebral Calcification Cerebellar Hypoplasia
- Cerebral Calcifications Opalescent Teeth Phosphaturia
- Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome
- Cerebral Gigantism Jaw Cysts
- Cerebral Palsy
- Cerebral Poliodystrophy
- Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease
- Cerebral Ventricle Cancer
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral folate transport deficiency
- Cerebro Facio Thoracic Dysplasia
- Cerebro Oculo Dento Auriculo Skeletal Syndrome
- Cerebro-Costo-Mandibular Syndrome
- Cerebro-Oculo-Facio-Skeletal Syndrome
- Cerebrotendinous Xanthomatosis
- Ceroid Lipofuscinosis Neuronal 1
- Ceroid Lipofuscinosis Neuronal 10
- Ceroid Lipofuscinosis Neuronal 2
- Ceroid Lipofuscinosis Neuronal 3
- Ceroid Lipofuscinosis Neuronal 4A Autosomal Recessive
- Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant
- Ceroid Lipofuscinosis Neuronal 5
- Ceroid Lipofuscinosis Neuronal 6
- Ceroid Lipofuscinosis Neuronal 7
- Ceroid Lipofuscinosis Neuronal 8
- Ceroid Lipofuscinosis Neuronal 9
- Ceroid lipofuscinosis, neuronal 14 (cln14)
- Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
- Cerulean Cataract
- Cervical Dystonia
- Cervical Hypertrichosis Neuropathy
- Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction
- cDGA
