C
- CACH Syndrome
- CACP or CAP syndrome
- CACT deficiency
- CADASIL
- CAH
- CAHMR Syndrome
- CAHTP
- CAMAK Syndrome
- CAMFAK Syndrome
- CANDF3
- CANDF7
- CANDF8
- CANDF9
- CANOMAD Syndrome
- CAP
- CAPOS
- CASK genetic mutation
- CASK-related disorders
- CASS
- CATC2
- CATLPH
- CATSHL Syndrome
- CATSHLS
- CBBM
- CBD
- CC
- CCA Syndrome
- CCAL1
- CCAL2
- CCDS
- CCGE Syndrome
- CCM
- CCM Syndrome
- CCMS
- 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
- CDPX2
- CDPXD
- CEDNIK Syndrome
- Cabezas syndrome
- Cafe-Au-Lait Macules with Pulmonary Stenosis
- Calcific Uremic Arteriolopathy
- Calcific Vasculopathy
- Calcifying Epithelial Odontogenic Tumor
- Calciphylaxis
- Calcium Gout
- Calcium Gout, Familial
- Calcium Pyrophosphate Arthropathy
- Calcium Pyrophosphate Arthropathy, Familial
- Calcium Pyrophosphate Dihydrate Deposition Disease 1
- Calloso-Genital Dysplasia
- Calvarial Hyperostosis
- Camera Marugo Cohen Syndrome
- Campomelia Cumming Type
- Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys
- 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 arthropathy pericarditis syndrome
- Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
- Camptodactyly, Tall Stature, Scoliosis, and Hearing Loss Syndrome
- Camptodactyly, Tall Stature, and Hearing Loss Syndrome
- Camptodactyly-Ichthyosis Syndrome
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- Camptodactyly-arthropathy-coxa-vara-pericarditis 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
- Candidiasis Familial, 7
- Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive
- Candidiasis, Familial, 9
- Candidiasis, familial, 3
- Candidiasis, familial, 8
- Cap disease
- Cap myopathy
- Capillary Hemangioblastoma
- Capillary malformation of the lower lip, Lymphatic malformation of the face and neck, Asymmetry of the face and limbs, and Partial or generalized Overgrowth
- Carbamoyl Phosphate Synthetase 1 Deficiency
- Carbamyl Phosphate Synthetase Deficiency
- Carbohydrate Deficient Glycoprotein Syndrome
- Carbohydrate-deficient glycoprotein syndrome type I
- Carbohydrate-deficient glycoprotein syndrome type II
- Carcinoid Syndrome
- Carcinoid Tumor Childhood
- Carcinoid tumor
- Carcinoid tumors, intestinal
- Carcinoma of unknown primary
- Cardiac Diverticulum
- Cardiac Rupture
- Cardiac angiosarcoma
- Cardiac anomalies-developmental delay-facial dysmorphism syndrome
- Cardiac arrhythmia, Ankyrin-B-related
- Cardioauditory Syndrome of Sanchez Cascos
- Cardiocranial Syndrome
- Cardiofaciocutaneous Syndrome
- Cardiogenic shock
- Cardiomegaly
- Cardiomyopathic Mitochondrial DNA Depletion Syndrome 10
- 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
- Cardiomyopathy, dilated, 1gg
- Cardiomyopathy, dilated, 1hh
- Cardiomyopathy, dilated, 1t
- Cardiomyopathy, dilated, 1u
- Cardiomyopathy, dilated, 1v
- Cardioskeletal Syndrome Kuwaiti Type
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardiospasm
- Carnevale Hernandez Castillo Syndrome
- Carnevale Syndrome
- Carnevale-Krajewska-Fischetto Syndrome
- Carney Complex
- Carnitine Deficiency
- Carnitine Palmitoyl Transferase 2 Deficiency
- Carnitine Palmitoyltransferase Deficiency Type 2
- Carnitine Palmitoyltransferase I Deficiency, Muscle
- 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
- Carnosinase Deficiency
- Carnosinemia
- Caroli Disease
- Carotid body tumor
- Carpal Deformity Micrognathia Microstomia
- Carpenter Syndrome
- Carpo Tarsal Osteolysis Recessive
- Carpotarsal Osteochondromatosis
- Cartilage-Hair Hypoplasia
- Carvajal Syndrome
- Caspase-8 Deficiency
- Castleman's Disease
- Cat Eye Syndrome
- Cat Scratch Disease
- Cat cry syndrome
- Catalase deficiency
- Catamenial Pneumothorax
- Cataract 18
- Cataract 32, Multiple Types
- Cataract Anterior Polar Dominant
- Cataract Ataxia Deafness
- Cataract Mental Retardation Hypogonadism
- Cataract Microcornea Syndrome
- Cataract Microphthalmia Septal Defect
- Cataract and Cardiomyopathy
- Cataract and Congenital Ichthyosis
- Cataract, Alopecia, Sclerodactyly
- Cataract, Anterior Polar
- Cataract, Anterior Polar, 1
- Cataract, Autosomal Recessive Congenital 2
- Cataract, Congenital, with Microcornea or Slight Microphthalmia
- Cataract, Hypertrichosis, and Mental Retardation Syndrome
- Cataract, Posterior Polar, 5
- Cataract-Hypertrichosis-Intellectual Disability Syndrome
- 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
- Catel-Manzke Type Palatodigital Syndrome
- Cathepsin D Deficiency
- Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
- 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
- Centronuclear myopathy
- Centrotemporal Epilepsy
- Ceramide Trihexosidosis
- Cercarial Dermatitis
- Cerebellar Agenesis
- Cerebellar Astrocytoma, Childhood
- Cerebellar Ataxia - Ectodermal Dysplasia
- 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 Ataxia-Ectodermal Dysplasia Syndrome
- 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 Palsy Spastic Diplegic
- Cerebral Poliodystrophy
- Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease
- Cerebral Ventricle Cancer
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral creatine deficiency syndromes
- Cerebral folate deficiency
- Cerebral folate deficiency syndrome
- Cerebral folate transport deficiency
- Cerebro Facio Thoracic Dysplasia
- Cerebro Oculo Dento Auriculo Skeletal Syndrome
- Cerebro-Costo-Mandibular Syndrome
- Cerebro-Oculo-Facio-Skeletal Syndrome
- Cerebroretinal microangiopathy with calcifications and cysts
- Cerebrotendinous Xanthomatosis
- Ceroid Lipofuscinosis Neuronal 1
- Ceroid Lipofuscinosis Neuronal 10
- Ceroid Lipofuscinosis Neuronal 2
- Ceroid Lipofuscinosis Neuronal 2, Variable Age At Onset
- 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 6B (Kufs Type)
- Ceroid Lipofuscinosis Neuronal 7
- Ceroid Lipofuscinosis Neuronal 8
- Ceroid Lipofuscinosis Neuronal 9
- Ceroid Lipofuscinosis Neuronal, Parry Type
- Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset
- Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
- Ceroid lipofuscinosis, neuronal 14 (cln14)
- Cerulean Cataract
- Cervical Dystonia
- Cervical Hypertrichosis Neuropathy
- Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction
- Cervical Ribs, Sprengel Anomaly, Preaxial Polydactyly, Anal Atresia, and Urethral Obstruction
- Cervical lymphocele with bowed long bones
- cDGA
