Chediak Higashi Syndrome |
Cherubism |
Choroideremia |
Cleidocranial Dysplasia |
Crigler-Najjar Syndrome |
Crohn Disease |
Cystic Fibrosis |
Cystinuria |
Creutzfeldt Jakob Syndrome |
Chronic Idiopathic Jaundices |
Canavan Disease |
Congenital contractural arachnodactyly |
Craniofrontonasal dysplasia |
Coffin Lowry Syndrome |
Coffin-Siris syndrome |
Congenital chloride diarrhea |
Charcot-Marie-Tooth disease, X-linked, 1 |
Congenital bilateral aplasia of vas deferens |
Complex, Carney |
Central Core Myopathies |
Cardiofaciocutaneous syndrome |
Congenital central hypoventilation syndrome |
Congenital amegakaryocytic thrombocytopenia |
Charcot-Marie-Tooth disease, Type 4B1 |
Creatine deficiency, X-linked |
Corneal endothelial dystrophy type 2 |
Cerebral Cavernous Malformations 2 |
Charcot-Marie-Tooth disease, Type 4C |
Ceroid Lipofuscinosis, Neuronal, 2 |
Charcot-Marie-Tooth Disease, Type 4j |
Carcinoma, Hepatocellular |
Craniometaphyseal dysplasia autosomal dominant |
Char syndrome |
Ceroid Lipofuscinosis, Neuronal, 1 |
Clubfoot |
Chondrodysplasia, Grebe type |
Ceroid Lipofuscinosis, Neuronal, 7 |
Ceroid lipofuscinosis, neuronal 5 |
Charcot-Marie-Tooth Disease, Type 4H |
Cardiomyopathy dilated with Woolly hair and keratoderma |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
Charcot-Marie-Tooth disease, Type 2E |
Corticosteroid-Binding Globulin Deficiency |
Cornea Plana 2 |
Corneal Dystrophy, Congenital Stromal |
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi |
Cytochrome-c Oxidase Deficiencies |
Ceroid lipofuscinosis, neuronal 8 |
Cataract, Zonular Pulverulent 1 |
Ceroid Lipofuscinosis, Neuronal, 10 |
Ceroid Lipofuscinosis, Neuronal, 6 |
Congenital disorder of glycosylation type 2A |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e |
Congenital myasthenic syndrome with episodic apnea |
Congenital atransferrinemia |
Charcot-Marie-Tooth disease, Type 2K |
Congenital myasthenic syndrome ib |
Carcinoma, Renal Cell |
Cardiomyopathies, Dilated |
Cleft Lip |
Cockayne Syndrome |
Colorectal Neoplasm |
Colorectal Neoplasms, Hereditary Nonpolyposis |
Congenital Hypothyroidism |
Cryptorchidism |
Chronic Granulomatous Diseases |
Citrullinemia |
Congenital disorder of glycosylation, type 2C |
Costeff optic atrophy syndrome |
Corpus callosum agenesis neuronopathy |
Carnitine palmitoyl transferase 1A deficiency |
Cardiomyopathy, Dilated, 1D |
Cardiomyopathy, Dilated, 1C |
Charcot-Marie-Tooth disease, Type 2D |
Cardiomyopathy, Dilated, 1E |
Cardiomyopathy, Dilated, 1M |
Cardiomyopathy, Dilated, 1l |
Charcot-Marie-Tooth disease, Type 2B1 |
Cardiomyopathy, Dilated, 1i |
Cataract, Autosomal Dominant |
Cardiomyopathy, Dilated, 1g |
Cone-Rod Dystrophy 3 |
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
Cataract, posterior polar, 1 |
Cardiomyopathy, Familial Hypertrophic, 4 |
Cardiomyopathy, Familial Hypertrophic, 2 |
Cerebral Cavernous Malformations 3 |
Cataract, Zonular Pulverulent 3 |
Ciliary Dyskinesia, Primary, 7 |
Cardiomyopathy, Dilated, 1EE |
Cardiomyopathy, Familial Hypertrophic, 14 |
Cardiomyopathy, Familial Hypertrophic, 13 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
Cleft Palate |
Carbamoyl-Phosphate Synthase I Deficiency Disease |
Cataract, Coppock-Like |
Cerebellar Ataxia, Cayman Type |
Cardiomyopathies, Hypertrophic |
Carpal Tunnel Syndrome |
Cholestases |
Cholesterol Ester Storage Disease |
Chondrosarcoma |
Common Variable Immunodeficiency |
Camurati Engelmann Syndrome |
Combined Hyperlipidemia, Familial |
Cyclic neutropenia |
Cerebrotendinous Xanthomatoses |
Cohen syndrome |
Corneal dystrophy of Bowman layer, type 1 |
Congenital Amauroses, Leber |
Congenital disorder of glycosylation type 1A |
Complement Factor H Deficiency |
Coumarin Resistance |
Cantu syndrome |
Chylomicron retention disease |
Corneal dystrophy Avellino type |
Currarino triad |
Cataract, Congenital, Cerulean Type, 2 |
CAPOS syndrome |
Charcot-Marie-Tooth disease, Type 2B |
Cataract, Congenital Zonular, with Sutural Opacities |
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
Capillary Malformation-Arteriovenous Malformation |
Cone-Rod Dystrophy, X-Linked, Type 1 |
Convulsions benign familial neonatal dominant form |
Corneal dystrophy and perceptive deafness |
Craniosynostosis, Type 2 |
Cushing's symphalangism |
Cardiomyopathy, Familial Restrictive, 1 |
Crigler Najjar syndrome, type 2 |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
Chilblain lupus 1 |
Charcot-Marie-Tooth disease, Type 1C |
Congenital disorder of glycosylation type 1B |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects |
CODAS syndrome |
Cataract and cardiomyopathy |
Crouzon Syndrome With Acanthosis Nigricans |
Congenital Cortical Hyperostoses |
Craniosynostosis radial aplasia syndrome |
Carnitine-Acylcarnitine Translocase Deficiency |
Chromosome 3-Linked Frontotemporal Dementia |
Charcot-Marie-Tooth disease, Type 4A |
Cholestasis, progressive familial intrahepatic 3 |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
Congenital disorder of glycosylation type 1C |
Carney-Stratakis Syndrome |
Charcot-Marie-Tooth disease, Type 2F |
Chudley-Mccullough syndrome |
CD59 Deficiency |
Cerebroretinal Microangiopathy with Calcifications and Cysts |
Coloboma |
Cowchock syndrome |
Chondrocalcinosis 2 |
Corneal Dystrophy, Fleck |
Corneal dystrophy, Thiel-Behnke type |
Congenital disorder of glycosylation type 1D |
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
Chromosome 17q21.31 Deletion Syndrome |
Cardiac Arrhythmia, Ankyrin-B-Related |
Cutis Laxa, Autosomal Recessive, Type IIB |
C9 Deficiency |
Cerebrooculofacioskeletal Syndrome 1 |
Cerebrocostomandibular Syndrome |
COACH syndrome |
Charcot-Marie-Tooth disease, Type 4B2 |
Cone-Rod Dystrophy 7 |
Congenital disorder of glycosylation type 1H |
Congenital disorder of glycosylation type 1K |
Cranioectodermal Dysplasia |
Congenital disorder of glycosylation type 1F |
Czech dysplasia, metatarsal type |
Congenital disorder of glycosylation type 1E |
Catel Manzke syndrome |
Congenital Disorder Of Glycosylation, Type IIB |
Calcification of Joints and Arteries |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
Congenital Disorder Of Glycosylation, Type In |
Congenital disorder of glycosylation type 1J |
Congenital disorder of glycosylation type 1L |
Combined Malonic and Methylmalonic Aciduria |
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation |
Cone-Rod Dystrophy 5 |
Congenital Disorder Of Glycosylation, Type Im |
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia |
Cold-induced sweating syndrome 1 |
Congenital nonprogressive myopathy with Moebius and Robin sequence |
Corneal dystrophy, Fuchs' endothelial, 1 |
Complement Component 7 Deficiency |
Cone Dystrophy 3 |
Congenital Disorder Of Glycosylation, Type IIH |
Complement Factor I Deficiency |
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type |
Corneal dystrophy, epithelial basement membrane |
Choreoathetosis-Spasticity, Episodic |
Carnitine Palmitoyltransferase II Deficiency, Infantile |
Colorectal Adenomatous Polyposis, Autosomal Recessive |
Charcot-Marie-Tooth disease, Type 2J |
Charcot-Marie-Tooth disease, Type 1D |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
Craniofacial deafness hand syndrome |
Charcot-Marie-Tooth disease, Type 2B2 |
Combined Oxidative Phosphorylation Deficiency 4 |
Chondrodysplasia, blomstrand type |
CATSHL syndrome |
Combined Saposin Deficiency |
Charcot-Marie-Tooth Disease, Axonal, Type 2n |
Congenital disorder of glycosylation type 1G |
Carcinoma, Non Small Cell Lung |
Carcinoma, Squamous Cell |
Cardiomyopathies, Restrictive |
Charcot Marie Tooth Disease |
Colitis, Ulcerative |
Coronary Disease |
Craniofacial Dysostoses |
Craniopharyngioma |
Craniosynostoses |
Cutis Laxa |
Ceroid Lipofuscinosis, Neuronal |
Combined Immunodeficiencies, Severe |
Cataracts |
Cartilage-hair hypoplasia |
Congenital Generalized Lipodystrophies |
Congenita, Pachyonychia |
Cutis Laxa, Autosomal Recessive, Type I |
Cutis Laxa, Autosomal Recessive, Type IIA |
Congenital Nongoitrous Hypothyroidism |
Corneal Dystrophy, Juvenile Epithelial of Meesmann |
Congenital Plasminogen Deficiency |
Complement Factor D Deficiency |
Chromosome 5q Deletion Syndrome |
CADASIL |
Carnevale syndrome |
Cardiomyopathy |
Crisponi syndrome |
Cardiomyopathy, Familial Hypertrophic, 6 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
Carnitine Palmitoyltransferase II Deficiency, Late-Onset |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal |
Cardiomyopathy, Familial Hypertrophic, 10 |
Cardiomyopathy, Dilated, 1s |
Cone-Rod Dystrophy 11 |
Cardiomyopathy, Dilated, 1p |
Combined Oxidative Phosphorylation Deficiency 1 |
CD8 Deficiency, Familial |
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly |
Carney Complex Variant |
Cardiomyopathy, Familial Hypertrophic, 8 |
Cardiomyopathy, Dilated, 1o |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
Corpus Callosum, Partial Agenesis of, X-Linked |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
Craniolenticulosutural Dysplasia |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
Charcot-Marie-Tooth disease, Type 1F |
Charcot-Marie-Tooth disease, Type 4A, axonal form |
Cone-Rod Dystrophy 10 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
Cerebrooculofacioskeletal Syndrome 4 |
Cerebrooculofacioskeletal Syndrome 2 |
Convulsions, Benign Familial Infantile, 2 |
Cataract, posterior polar, 3 |
Cardiomyopathy, Dilated, 1J |
Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Negative |
Cystic Kidney Disease with Ventriculomegaly |
Conotruncal cardiac defects |
Cataract, Congenital Nuclear, Autosomal Recessive 2 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency |
Candidiasis familial chronic mucocutaneous, autosomal recessive |
Cardiomyopathy, Familial Hypertrophic, 9 |
Cardiomyopathy, Familial Hypertrophic, 3 |
Cataract, posterior polar, 4 |
Combined Oxidative Phosphorylation Deficiency 3 |
Combined Oxidative Phosphorylation Deficiency 2 |
Cataract, autosomal recessive congenital 2 |
Cardiomyopathy, Dilated, 1x |
Combined Cellular And Humoral Immune Defects With Granulomas |
Combined Oxidative Phosphorylation Deficiency 5 |
Cone-Rod Dystrophy 12 |
Ciliary Dyskinesia, Primary, 11 |
Ciliary Dyskinesia, Primary, 10 |
Chromosome 2q32-Q33 Deletion Syndrome |
Cardiomyopathy, Dilated, 1AA |
Cardiomyopathy, Familial Hypertrophic, 11 |
Cardiomyopathy, Dilated, 2a |
Cardiomyopathy, Dilated, 1z |
Cardiomyopathy, Dilated, 1y |
Chondrodysplasia, Megarbane-Dagher-Melki Type |
Cardiomyopathy, Dilated, 1FF |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
Cardiomyopathy, Familial Hypertrophic, 15 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
Cone-Rod Dystrophy 13 |
Ciliary Dyskinesia, Primary, 13 |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities |
Cardiomyopathy, Dilated, 1DD |
Cardiomyopathy, Dilated, 1CC |
Central Areolar Choroidal Dystrophy-2 |
Cone Dystrophy 4 |
Cerebral Palsy, Spastic Quadriplegic, 1 |
Congenital Disorder of Glycosylation, Type Io |
Congenital disorder of glycosylation type 1X |
Cystinosis, ocular nonnephropathic |
Cholestasis, progressive familial intrahepatic 4 |
Craniometaphyseal dysplasia, autosomal recessive type |
Cardiomyopathy, Dilated, 1V |
Complement Component 3 Deficiency, Autosomal Recessive |
Cardiomyopathy, Dilated, 1u |
Cardiomyopathy, Familial Hypertrophic, 1 |
Charcot-Marie-Tooth disease, Type 2I |
Cone-rod synaptic disorder, congenital nonprogressive |
Carcinoma, Lobular |
Cutaneous Mastocytoses |
Chromosome 2q37 deletion syndrome |
Cutis Laxa, Autosomal Dominant |
Capillary Malformations, Congenital, 1 |
Cchs With Hirschsprung Disease |
Cataract, zonular |
Chronic Pancreatitis |
Cerulean cataract |
Chondrodysplasia punctata, brachytelephalangic |
Cerebrofaciothoracic Dysplasia |
Cole Carpenter syndrome |
Chordoma |
Complement Component 6 Deficiency |
Cardiac valvular dysplasia, X-linked |
Complement component 5 deficiency |
Curly hair-ankyloblepharon-nail dysplasia syndrome |
Choroidal Dystrophy, Central Areolar |
Curth-Macklin type ichthyosis hystrix |
Cone-Rod Dystrophy, X-Linked, 3 |
Cataract microcornea syndrome |
Cakut |
Congenital Disorder Of Glycosylation, Type IIF |
Corneal Dystrophy, Fuchs Endothelial, 3 |
Cachexia |
Celiac Disease |
Chondrodysplasia Punctata |
Colitides |
Colonic Neoplasms |
Cushing Syndrome |
Coagulations, Disseminated Intravascular |
Chronic Neutrophilic Leukemia |
Cholangiocarcinoma |
Cholestasis, Intrahepatic, Of Pregnancy |
Chondrodysplasia Punctata, Rhizomelic |
Chondrosarcoma, Extraskeletal Myxoid |
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies |
Cataract, Pulverulent |
Ciliary Dyskinesia, Primary, 5 |
Congenital disorder of glycosylation type II |
Camptosynpolydactyly, Complex |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia |
Cerebrooculofacioskeletal Syndrome 3 |
Cryptophthalmos, Unilateral or Bilateral, Isolated |
Complement Component 4, Partial Deficiency Of |
Cold-induced sweating syndrome 2 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
Cardiac Valvular Defect, Developmental |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
Cardiomyopathy, Dilated, 1w |
Coronary Artery Disease, Autosomal Dominant 2 |
Ciliary Dyskinesia, Primary, 12 |
Ciliary Dyskinesia, Primary, 9 |
Cardiomyopathy, Familial Restrictive, 3 |
Cardiac Conduction Defect, Nonspecific |
CSNB1C |
CLAPO Syndrome |
Cone-Rod Dystrophy, Aipl1-Related |
Cardiomyopathy, Dilated, 1BB |
Congenital disorder of glycosylation type 2D |
Congenital disorder of glycosylation type 2E |
Congenital disorder of glycosylation, type 2G |
Cerebral Amyloid Angiopathy, App-Related, Dutch Variant |
Ceroid lipofuscinosis, neuronal 1, infantile |
Colorectal cancer, hereditary nonpolyposis, type 1 |
Complement Component C1s Deficiency |
Cirrhoses, Liver |
Carcinoma, Transitional Cell |
Cystitides |
Cortisone reductase deficiency |
Complement Component 4a Deficiency |
Ciliopathies |
Chronic Myelomonocytic Leukemias |
Chromosome 1p36 Deletion Syndrome |
Candidiases, Chronic Mucocutaneous |
Cervical Neoplasm, Uterine |
Cardiomegaly |
Cystic Kidney Diseases |
Cardiomyopathy, infantile histiocytoid |
Contiguous Abcd1-Dxs1375e Deletion Syndrome |
Congenital idiopathic intestinal pseudoobstruction |
Congenital thrombotic disease, due to Protein C deficiency |
Chondrodysplasia Punctata 1, X-Linked |
Calcinoses |
Carcinoma |
Cardiovascular Disease |
Cell Neoplastic Transformation |
Cerebral Infarction |
Cholelithiases |
Cholestases, Intrahepatic |
Carcinoma, Adenoid Cystic |
Compressions, Spinal Cord |
Central Nervous System Neoplasms |
Cocaine Related Disorders |
Combined Pituitary Hormone Deficiency |
Cardiac Conduction System Diseases |
Cholestasis, progressive familial intrahepatic 1 |
Congenital Methemoglobinemia |
Congenital Disorders of Glycosylation |
Corneal Dystrophy, Posterior Polymorphous, 1 |
Carnitine palmitoyl transferase 2 deficiency |
Carboxypeptidase N Deficiency |
Choroid Plexus Carcinoma |
Chondrocalcinoses |
Choroidal Neovascularization |
Cardiotoxicities |
Cardiomyopathies, Familial Hypertrophic |
Congenital Fibrosis of Extraocular Muscles |
Continuous Muscle Fiber Activity, Hereditary |
Carotid Intimal Medial Thickness 1 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
Caudal Dysgenesis Syndrome |
Caudal Duplication Anomaly |
Cardiomyopathy, Dilated, 1N |
Cataract, Pulverulent, Juvenile-Onset |
Cirrhosis, Familial |
Cataract, Congenital Nuclear, Autosomal Recessive 3 |
Cavitary Optic Disc Anomalies |
Ciliary Dyskinesia, Primary, 6 |
Cryopyrin-Associated Periodic Syndrome |
Chromosome 15q13.3 Microdeletion Syndrome |
Cerebral Small Vessel Diseases |
Cataract, Autosomal Recessive Congenital 3 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
Cataract, congenital, with microcornea or slight microphthalmia |
Cerebral Hemorrhage |
Cataract, Autosomal Recessive Congenital 1 |
Chemical and Drug Induced Liver Injury |
Cystinosis |
Congenital Ichthyosiform Erythrodermas |
Chorea |
Color Vision Defects |
Cyanoses |
Cutaneous T Cell Lymphoma |
Coronary Artery Disease, Autosomal Dominant, 1 |
Cortical Development Malformations |
Cone Rod Dystrophies |
Cholangitides |
Cardiac Death, Sudden |
Cerebellar Hypoplasia |
Cyclopia |
Cobblestone Lissencephaly |
Candidiases |
Cholangitides, Sclerosing |
Choledochal Cyst |
Cognition Disorders |
Coma |
Connective Tissue Diseases |
Constipation |
Coronary Vasospasm |
Cough |
Cysts |
Castleman's Disease |
Cutaneous Leishmaniases |
Condition, Precancerous |
Corneal Neovascularization |
Cervical Intraepithelial Neoplasia |
Cafe au Lait Spots |
Carcinoma, Small Cell |
Calcification, Vascular |
Cholesteryl Ester Transfer Protein Deficiency |
Chronic Eosinophilic Leukemia |
Cystic medial necrosis of aorta |
Charcot-Marie-Tooth disease, Type 4E |
Cleft Soft Palate |
Carcinogenesis |
Congenital Structural Myopathy |
Coronary Syndromes, Acute |
Carcinoma, Ductal, Breast |
Cylindromatosis, familial |
Creutzfeldt-Jakob Disease, Sporadic |
Cerebellar hypoplasia with endosteal sclerosis |
Chondroblastoma |
Clear-cell metastatic renal cell carcinoma |
Cap Myopathy |
Carcinoma, Medullary |
Coenzyme Q10 Deficiency |
Chlamydia Infection |
Coronary Restenoses |
Coronary Thromboses |
Cri-du-Chat Syndrome |
Chronic Periodontitides |
Cholecystolithiasis |
Carcinoma, Intraductal, Noninfiltrating |
Catatonic Schizophrenias |
Carolis Disease |
Carcinoma, Pancreatic Ductal |
Carotid Stenoses |
Contact Dermatitides |
Carcinoma, Neuroendocrine |
Craniodiaphyseal Dysplasia |
Cystinuria, Type B |
Carcinosarcoma |
Cartilage Disease |
Catalepsies |
Central Nervous System Diseases |
Chorioamnionitides |
Cytomegalovirus Infection |
Chronic Pains |
Cystitides, Interstitial |
Congenital anosmia |
Chondroma |
Carcinoma, Islet Cell |
Cystinuria, Type A |
Cerebellar Ataxia, Deafness, and Narcolepsy |
Cutis laxa, recessive |
Carcinoid Tumor |
Cardiomyopathy, Alcoholic |
Cerebral Palsy |
Cerebrovascular Disorders |
Ciliary Motility Disorder |
Colonic Polyps |
Corneal Ulcer |
Complication, Pregnancy |
CREST Syndrome |
Carcinoma, Large Cell |
Carcinoma, Lewis Lung |
Cardiovascular Abnormalities |
Chloracne |
CEREBRAL AMYLOID ANGIOPATHY FAMILIAL |
Cutis marmorata telangiectatica congenita |
Cayler cardiofacial syndrome |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
Charcot-Marie-Tooth disease, Type 2G |
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma |
Classical Lissencephalies and Subcortical Band Heterotopias |
Carnosinemia |
Cadmium Poisoning |
Candidiases, Oral |
Carbohydrate Metabolism, Inborn Errors |
Carcinoma, Merkel Cell |
Cardiac Output, Low |
Cardiac Tamponade |
Carotid Artery Thromboses |
Catatonia |
Cecal Neoplasm |
Cellulitis |
Cerebellar Disease |
Chest Pain |
Child Development Disorders, Pervasive |
Cholecystitis |
Chromosome Disorders |
Chromosome Deletion |
Cochlear Disease |
Compartment Syndromes |
Confusion |
Conjunctival Disease |
Contracture |
Corneal Disease |
Corneal Dystrophies, Hereditary |
Corneal Opacity |
Coxsackievirus Infection |
Cardiac Edemas |
Cysts, Follicular |
C Disease, Hemoglobin |
Carcinoid Syndrome, Malignant |
Cysts, Ovarian |
Cutaneous Anaphylaxis, Passive |
Complications, Postoperative |
Cardiovascular Pregnancy Complication |
Cardiac Output, High |
Chills |
Caliciviridae Infections |
Cardiovirus Infections |
Chondrosarcoma, Mesenchymal |
Carcinoma, Endometrioid |
Carcinoma, Mucoepidermoid |
Chronobiology Disorder |
Coronary Stenosis |
Cytosolic acetoacetyl-CoA thiolase deficiency |
Choroidal sclerosis |
Carcinoid Tumors, Intestinal |
Carbon Tetrachloride Poisoning |
Coma, Post Head Injury |
Chronic Renal Insufficiency |
Candidiasis, Vulvovaginal |
Choledocholithiasis |
Chromosome 3, monosomy 3p |
Coloboma, cleft lip-palate and mental retardation syndrome |
Congenital facial diplegia |
Chromosomal Instabilities |
Calculi, Ureteral |
Caroli disease isolated |
Chondrodysplasia, acromesomelic, with genital anomalies |
Cataract, Central Saccular, With Sutural Opacities |
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness |
Cataract anterior polar dominant |
Chorea, Benign Familial |
CAMFAK syndrome |
Cataract, Nuclear Diffuse Nonprogressive |
Cataract, Crystalline Aculeiform |
Cardiac Conduction Defect, Nonprogressive |
Copper-Overload Cirrhosis |
Cataract, Autosomal Dominant, Multiple Types 1 |
Cataract, Cortical, Juvenile-Onset |
Creutzfeldt-Jakob Disease, Heidenhain Variant |
Choreoathetosis And Congenital Hypothyroidism |
Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities |
Chromosome 22q11.2 Microduplication Syndrome |
Capillary Malformation Without Arteriovenous Malformation |
Chromosome 15q26-Qter Deletion Syndrome |
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
Cataract, Juvenile, With Microcornea And Glucosuria |
Chromosome 22q11.2 Deletion Syndrome, Distal |
Chromosome Xq28 Duplication Syndrome |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
Cap Myopathy, Tpm2-Related |
Cap Myopathy, Tpm3-Related |
Chromosome 17p13.3 Duplication Syndrome |
Chromosome 5p13 Duplication Syndrome |
Cerebral Amyloid Angiopathy, Gsn-Related |
Cerebral Amyloid Angiopathy, App-Related, Arctic Variant |
Cone rod dystrophy amelogenesis imperfecta |
Chromosome 3, monosomy 3p25 |
Chromosomal mosaicism due to mitotic instability |
Chromosome 5, monosomy 5q35 |
Chromosome 8, monosomy 8p23 1 |
Chromosome 17 deletion |
Chromosome 2, monosomy 2q24 |
Cystathionase Deficiency |
Carnosinase Deficiency |
Cerebrocostomandibular-Like Syndrome |
Cyclic Hematopoesis |
Congenital Microtia |
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant |
Cerebral Amyloid Angiopathy, App-Related, Italian Variant |
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant |
Cataract, total congenital |
Calcium Metabolism Disorder |
Cryoglobulinemia |
Cushion Defect, Endocardial |
Charcot-Marie-Tooth disease, Type 1E |
Cutaneous Lupus Erythematosus |
Chylothorax, congenital |
Cancer Pains |
Cleft Palate-Lateral Synechia Syndrome |
Cone Dystrophy, X-Linked, 1 |
Cornea Plana 1 |
Charcot-Marie-Tooth disease and deafness |
Cardio-Renal Syndromes |
Carbon Monoxide Poisoning |
Carcinoma, Ehrlich Tumor |
Cataplexy |
Cestode Infections |
Cardiomyopathy, Chagas' |
Chiari Frommel Syndrome |
Choline Deficiencies |
Clonorchiases |
Colonic Disease |
Colonic Disease, Functional |
Conjunctivitides |
Crush Syndrome |
Cryptococcoses |
Compression Syndrome, Nerve |
Complication, Infectious Pregnancy |
Cumulative Trauma Disorder |
Coronavirus Infection |
Chromosome 9, partial monosomy 9p |
Cogan Syndrome |
Central Nervous System Viral Diseases |
Cord Ischemia, Spinal |
Chromosome 9p Deletion Syndrome |
Chlamydophila Infection |
Constriction, Pathologic |
Cardiomyopathy, Takotsubo |
Cataract, Congenital, Cerulean Type, 3 |
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k |
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma |
Corticosteroid-Binding Globulin, Elevated |
Cicatrix |
Chromosome 10q23 Deletion Syndrome |
Cataract, Posterior Polar, 2 |
Cold Hypersensitivity |
Cataract, Punctate, Progressive Juvenile-Onset |
Carotid Body Tumor |
Carney Triad |
Choriocarcinoma |
Cavernous Hemangiomas |
Cleft Palate with Ankyloglossia |
Chilblain |
Cysts, Epidermal |
Cysts, Pancreatic |
Corneal Dystrophy, Band-Shaped |
Cirrhosis, Cryptogenic |
Colon Diverticulum |
Carinatum, Pectus |
Carnitine Acetyltransferase Deficiency |
Campomelic Dysplasia with Autosomal Sex Reversal |
Cafe au lait spots, multiple |
Carcinoma, Papillary |
Cervicitides, Uterine |
Cervical Dysplasia, Uterine |
Cervical Incompetence, Uterine |
Chalazion |
Cheilitides |
Chloramphenicol Resistance |
Cholera |
Cholesteatoma |
Chorioretinitides |
Choristoma |
Choroid Hemorrhage |
Churg Strauss Syndrome |
Chylothorax |
Circadian Rhythm |
Cluster Headache |
Contrast Sensitivity |
Cor Triatriatum |
Cystic Adenomatoid Malformation of Lung, Congenital |
Cystocele |
Cyst, Dermoid |
Contracture, Dupuytren's |
Count, Erythrocyte |
Color, Eye |
Chronic Fatigue Syndromes |
Chest, Funnel |
Color, Hair |
Contractures, Hip |
Congenital Hip Dislocations |
Count, Leukocyte |
Cysts, Mesenteric |
Constrictive Pericarditides |
Count, Platelet |
Cell Trait, Sickle |
Cysts, Thyroglossal |
Chagas Disease |
Cyst, Urachal |
Capacities, Vital |
Congenital heart block |
Conduct Disorder |
Colic, Renal |
Cervical Ribs |
Cicatrix, Hypertrophic |
Carcinoma, Adenosquamous |
Carcinoma, Embryonal |
Carcinoma, Signet Ring Cell |
Cystadenocarcinoma, Serous |
Carcinomatoses, Meningeal |
Choanal Atresia, Posterior |
Complete atrioventricular septal defect |
Colic |
Collagenous Colitis |
Coxa Valgas |
Coxa Vara |
Camptocormia |
Colonic Atresia |
Cystinuria type 1 |
Connective Tissue Nevus |
Coproporphyria |
Callosities |
Cord, Nuchal |
Colpocephaly |
Corneal Topographies |
Chorioretinopathies, Central Serous |
Carotid Artery, Internal, Dissection |
Candidemias |
Channelopathies |
Chromosome 5, trisomy 5q |
Cataract, Age-Related Nuclear |
Cerebelloparenchymal Disorder VI |
Cerebellar Granule Cell Hypertrophy and Megalencephaly |
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only |
Coronary Sclerosis, Medial, of Infancy |
Coxa Magnas |
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly |
Cervical Vertebral Dysplasia |
Calvarial hyperostosis |
Charcot-Marie-Tooth disease, Type 2A |
Chronic Kidney Disease Mineral and Bone Disorder |
Central Nervous System Infections |
Child Abuse |
Carboxylase Deficiencies, Multiple |
Cysts, Synovial |
Coinfection |
Cyst, Ganglion |
Cell Tumor, Giant |
Carcinoma, Verrucous |
Collagen Diseases |
Choriomeningitis, Lymphocytic |
Carcinoma, Acinar Cell |
Crohn's disease, pediatric |
Cutis Laxa, Autosomal Recessive |
Condylomata Acuminata |
Cysts, Radicular |
Cervical Disease, Uterine |
Cystadenoma |
Chromosome 11p Deletion Syndrome |
Cat-Scratch Disease |
Cerebrospinal Fluid Rhinorrhea |
Coccidioidomycoses |
Communication Disorder |
Cryptosporidioses |
Cysts, Dentigerous |
Crimean Hemorrhagic Fevers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Cell Tumor, Granular |
Cholesteatoma, Middle Ear |
Cystadenoma, Serous |
Cerebral Palsy, Ataxic, Autosomal Recessive |
Chronic recurrent multifocal osteomyelitis |
Chromosome 18 deletion syndrome |
Chromosome 18, trisomy 18q |
Central Nervous System Sensitization |
Congenital Hypothyroidism, Nongoitrous, 3 |
Chromosome 18q syndrome |
Calciphylaxis |
Carcinoid Heart Disease |
Cerebellar Neoplasm |
Chondromatoses, Synovial |
Colds, Common |
Conversion Disorder |
Cysticercoses |
Cysts, Odontogenic |
Cough, Whooping |
Choroid Plexus Neoplasm |
Cutaneous Leishmaniases, Diffuse |
Cryptococcal Meningitides |
Cytomegalovirus Retinitis |
Cirrhosis, Familial, with Pulmonary Hypertension |
Capillary Leak Syndrome |
Chromosome 9, trisomy |
Complex Regional Pain Syndromes |
Composite Lymphoma |
Chromosome 10, monosomy 10q |
Chromosome 15q, trisomy |
Candidiases, Invasive |
Cerebrofrontofacial Syndrome |
Corneal dystrophy, Fuchs' endothelial, 2 |
Charcot-Marie-Tooth disease, Type 2C |
Corneal Dystrophy, Posterior Amorphous |
Collagenopathy, type 2 alpha 1 |
Chronic Traumatic Encephalopathy |
Chancroid |
Cowpox |
Croup |
Cystadenoma, Mucinous |
Congenital Toxoplasmoses |
Colitis, Ischemic |
Cystadenocarcinoma, Mucinous |
Carcinoma, Giant Cell |
Chromosome 9, partial trisomy 9p |
Congenital pseudoarthrosis |
Chromosome 1, monosomy 1p |
Chromosome 11q trisomy |
Chorioretinal atrophy, progressive bifocal |
Coronary Artery Dissection, Spontaneous |
Collagenosis, Familial Reactive Perforating |
Cochleosaccular degeneration of the inner ear and progressive cataracts |
Coumarin Sensitivity |
Carrington syndrome |
Cutaneous anthrax |
Campylobacter Infection |
Candidiases, Cutaneous |
Caplans Syndrome |
Catastrophic Illness |
Causalgia |
Cementoma |
Cerebellar Dyssynergia, Myoclonic |
Chancre |
Cheyne Stokes Respiration |
Choroid Disease |
Choroiditides |
Chromoblastomycoses |
Coccidioses |
Combat Disorder |
Congenital macroglossia |
Conjunctival Neoplasm |
Conjunctivitides, Viral |
Consciousness Disorder |
Cranial Nerve Disease |
Crisscross Heart |
Cyclothymic Disorder |
Cystadenocarcinoma |
Colonic Diverticulosis |
Contagious Ecthyma |
Complex, Eisenmenger |
Cysts, Jaw |
Cyst, Mediastinal |
Connective Tissue Neoplasm |
Congenital Rubella Syndromes |
Cutaneous Tuberculoses |
Crystal Arthropathy |
Chondromatosis |
Carcinoma, Papillary, Follicular |
Cystadenocarcinoma, Papillary |
Congenital hypertrichosis lanuginosa |
Carotid Cavernous Sinus Fistula |
Cavernous Sinus Thrombosis |
Chromosome 22, trisomy |
Cholecystitis, Acalculous |
Cerebral palsy, spastic, diplegic |
Cryofibrinogenemia |
Cyst, Colloid |
Cystadenofibroma |
Calcifying Epithelial Odontogenic Tumor |
Catamenial pneumothorax |
Cardiac Complexes, Premature |
Congenitally corrected transposition of the great arteries |
Cholesteatoma, Congenital |
Cutaneous Fistula |
Chromosome 18p deletion syndrome |
Cardiovascular Infections |
Central Nervous System Vascular Malformations |
Chromosome 2, trisomy 2p |
Chromosome 2, trisomy 2q |
Chromosome 3, trisomy 3q |
Chromosome 4, trisomy 4q |
Chromosome 6, monosomy 6q |
Chromosome 7 ring syndrome |
Chromosome 7, trisomy 7p |
Chromosome 7, trisomy 7q |
Chromosome 8, monosomy 8p |
Chromosome 8, trisomy 8p |
Chromosome 8, trisomy 8q |
Chromosome 9, tetrasomy 9p |
Chromosome 10, monosomy 10p |
Chromosome 12 ring |
Chromosome 12, 12p trisomy |
Chromosome 12, trisomy 12q |
Chromosome 15q, tetrasomy |
Chromosome 17, trisomy 17p |
Chromosome 18, tetrasomy 18p |
Chromosome 21 monosomy |
Chromosome 17 trisomy |
Compulsive Personality Disorder |
Cataract congenital dominant non nuclear |
Craniosynostosis, Philadelphia Type |
Cataract, anterior polar 2 |
Cleft Lip, Congenital Healed |
Cone-Rod Dystrophy 1 |
Craniosynostosis, Adelaide Type |
Charcot-Marie-Tooth disease, X-linked recessive, 3 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
Cataract, Variable Zonular Pulverulent |
Cataract, Autosomal Dominant Nuclear |
Copper Toxicosis, Idiopathic |
Chromate Resistance |
Chlorpropamide-Alcohol Flushing |
Cerebral sarcoma |
Catatrichy |
Craniosynostosis with Ectopia Lentis |
Craniosynostosis, anal anomalies, and porokeratosis |
Crossed Polydactyly, Type I |
COPD, Severe Early-Onset |
Chromosome 3q29 Deletion Syndrome |
Convulsions, Benign Familial Infantile, 4 |
Chromosome 6pter-P24 Deletion Syndrome |
Cowden-Like Syndrome |
Chronic malaria |
Chromosome 4q- Syndrome |
Chromosome 7, trisomy mosaic |
Chromosome 15, trisomy mosaicism |
Congenital Deficiency of Pulmonary Surfactant Protein B |
Congenital alopecia X-linked |
Chromosome 16p13.3 Deletion Syndrome |
Cystinosis, Infantile Nephropathic |
Calcification, Physiologic |
Capillary |
Cell Differentiation |
Cell Nucleus |
Cell |
Cerebellum |
Cerebral Cortex |
Choroid |
Chromosome |
Chromosomes, Human, Pair 14 |
Chromosomes, Human, Pair 16 |
Chromosomes, Human, Pair 6 |
Chronic Disease |
Clavicle |
Cognition |
Cold Temperatures |
Colors |
Communicable Disease |
Complement Pathway, Classical |
Cornea |
Callosum, Corpus |
Corpus Striatum |
Cytoplasmic Granule |
Canal, Ear |
Colliculi, Inferior |
Chromosome Inversion |
Cortex, Kidney |
Cell, Natural Killer |
Cycle, Menstrual |
Chiasm, Optic |
Chromatid Exchange, Sister |
Cord, Spinal |
Cord, Vocal |
Cerebellar Vermis |
Chromosome 12p deletion |
Charcot-Marie-Tooth disease, Type 2H |
Cardiocranial syndrome |