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Disease	Synonyms	Description	Articles	Phenotypes
calcaneonavicular coalition	Multiple synostosis syndrome (disorder); SYNOSTOSE.. [+] Multiple synostosis syndrome (disorder); SYNOSTOSES, TARSAL, CARPAL AND DIGITAL; Multiple synostosis syndrome; [-]	A synostosis characterized by the fusion of carpal..[+] A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. [-]
calcific tendinitis		n_a
calcinosis	pathologic calcification; Pathologically calcified.. [+] pathologic calcification; Pathologically calcified structure; [-]	A calcium metabolism disease that is the result of..[+] A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. [-]
calciphylaxis		n_a
calcium metabolism disease		n_a	3 articles
calcium oxalate nephrolithiasis		A nephrolithiasis that is characterized by charact..[+] A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. [-]	1 articles
calvarial doughnut lesions with bone fragility		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. [-]
campomelic dysplasia	Acampomelic Campomelic Dysplasia;	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. [-]	3 articles
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	CACP; CACP syndrome; congenital familial hypertrop.. [+] CACP; CACP syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome; arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; Jacobs syndrome; CAP syndrome; [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
camptodactyly-tall stature-scoliosis-hearing loss syndrome	CATSHL syndrome;	A syndrome characterized by camptodactyly, tall st..[+] A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. [-]
campylobacteriosis	(Campylobacter GIT infection (& [diarrhea] or [ent.. [+] (Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis); Campylobacteriosis (disorder); Campylobacteriosis; [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. [-]
cancer	malignant neoplasm; primary cancer; malignant tumo.. [+] malignant neoplasm; primary cancer; malignant tumor ; [-]	A disease of cellular proliferation that is malign..[+] A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. [-]	140 articles	93 matches
cancerophobia	cancer phobia; Fear of getting cancer (finding); F.. [+] cancer phobia; Fear of getting cancer (finding); Fear of getting cancer; [-]	n_a
candidal paronychia	candidiasis of skin; candidiasis of skin and nails.. [+] candidiasis of skin; candidiasis of skin and nails; [-]	A candidiasis that results_in fungal infection of ..[+] A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. [-]
candidiasis	systemic candidiasis; Disseminated candidiasis;	An opportunistic mycosis that involves fungal infe..[+] An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. [-]
cannabis abuse	marijuana abuse;	A substance abuse that involves the recurring use ..[+] A substance abuse that involves the recurring use of cannabis despite negative consequences. [-]
cannabis dependence		A drug dependence that involves the continued use ..[+] A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. [-]
capillariasis	Capillaria infection (disorder); Capillaria infect.. [+] Capillaria infection (disorder); Capillaria infection; [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. [-]
capillary disease	disease of capillaries;	A vascular disease that is located_in the capillar..[+] A vascular disease that is located_in the capillaries. [-]
capillary hemangioma	Capillary hemangioma (disorder); Capillary hemangi.. [+] Capillary hemangioma (disorder); Capillary hemangioma (morphologic abnormality); cellular hemangioma of Infancy (Strawberry nevus); Congenital vascular hamartoma; Infantile hemangioma; Strawberry haemangioma; Strawberry nevus; Congenital vascular naevus; Strawberry nevus of skin (disorder); Capillary hemangioma; cellular hemangioma of Infancy; Juvenile hemangioma; Strawberry nevus of skin; Capillary haemangioma; [-]	A hemangioma that is characterized by the presence..[+] A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. [-]
capillary leak syndrome	Capillary leak syndrome; Capillary leak syndrome (.. [+] Capillary leak syndrome; Capillary leak syndrome (disorder); [-]	A capillary disease characterized by hypotension, ..[+] A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. [-]
capillary lymphangioma	cutaneous lymphangioma;	n_a
carbamazepine allergy	carbamazepen allergy; Tegretol allergy;	A drug allergy that has_allergic_trigger carbamaze..[+] A drug allergy that has_allergic_trigger carbamazepine. [-]
carbamoyl phosphate synthetase I deficiency disease	CPS I deficiency;	A urea cycle disorder that involves accumulation o..[+] A urea cycle disorder that involves accumulation of ammonia in the blood. [-]
carbapenem allergy		A drug allergy that has_allergic_trigger carbapene..[+] A drug allergy that has_allergic_trigger carbapenems. [-]
carbohydrate metabolic disorder	disorder of carbohydrate transport and metabolism;.. [+] disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolism disorder; inborn errors of carbohydrate metabolism; [-]	An inherited metabolic disorder that affect the ca..[+] An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. [-]	34 articles
carboxypeptidase N deficiency	anaphylotoxin inactivator deficiency; deficiency o.. [+] anaphylotoxin inactivator deficiency; deficiency of carboxypeptidase B; [-]	A plasma protein metabolism disease characterized ..[+] A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. [-]
carbuncle	carbuncle and furuncle of any part of face except .. [+] carbuncle and furuncle of any part of face except eye; carbuncle and furuncle of foot; carbuncle and furuncle of gluteal region; carbuncle and furuncle of hand; carbuncle and furuncle of neck; carbuncle and furuncle of trunk; carbuncle and furuncle of upper arm and forearm; Carbuncle and furuncle of face; carbuncle and furuncle of leg except foot; Carbuncle and furuncle of buttock; [-]	n_a
carcinoma	epithelioma; malignant Epithelioma; epithelial can.. [+] epithelioma; malignant Epithelioma; epithelial cancer; [-]	A cell type cancer that has_material_basis_in abno..[+] A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [-]	11 articles	20 matches
carcinoma arising in nasal papillomatosis		n_a
carcinoma of supraglottis	carcinoma of supraglottis (disorder); Supraglottic.. [+] carcinoma of supraglottis (disorder); Supraglottic carcinoma; [-]	n_a
carcinosarcoma	malignant mixed mesodermal (mullerian) tumor; meso.. [+] malignant mixed mesodermal (mullerian) tumor; mesodermal mixed tumor; mixed Mesodermal (mullerian) tumor; MMMT; mullerian mixed tumor (morphologic abnormality); Mesodermal mixed tumor (morphologic abnormality); Mesodermal mixed tumor; malignant mixed Mullerian tumor; mullerian mixed tumor; [-]	A mixed cell type cancer that has_material_basis_i..[+] A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. [-]
cardia cancer	Ca cardia - stomach; malignant neoplasm of cardia .. [+] Ca cardia - stomach; malignant neoplasm of cardia of stomach; [-]	A cancer located_in the gastric cardia.
cardiac arrest	cardiopulmonary arrest; circulatory arrest;	A congestive heart failure characterized by a sudd..[+] A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. [-]	3 articles
cardiac granular cell neoplasm	granular cell tumor of Heart;	n_a
cardiac sarcoidosis	Cardiac sarcoidosis (disorder); Cardiac sarcoidosi.. [+] Cardiac sarcoidosis (disorder); Cardiac sarcoidosis; [-]	A sarcoidosis that is characterized by conduction ..[+] A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. [-]
cardiac tamponade	pericardial tamponade; Rose's tamponade;	A pericardial effusion in which fluid accumulates ..[+] A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. [-]
cardiac tuberculosis	cardiovascular tuberculosis;	A tuberculosis located in the heart.
cardiofaciocutaneous syndrome	cardio-facial-cutaneous syndrome; CFC syndrome;	A RASopathy characterized by unusually sparse, bri..[+] A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. [-]	1 articles
cardiofaciocutaneous syndrome 1	CFC1;	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. [-]
cardiofaciocutaneous syndrome 2	CFC2;	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. [-]
cardiofaciocutaneous syndrome 3	CFC3;	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. [-]
cardiofaciocutaneous syndrome 4	CFC4;	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. [-]
cardiomyopathy	Cardiomyopathies;	A heart disease and a myopathy that is characteriz..[+] A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. [-]	45 articles
cardiovascular cancer	cardiovascular neoplasm; Cardiovascular tumors;	An organ system cancer that located_in the heart a..[+] An organ system cancer that located_in the heart and blood vessels. [-]
cardiovascular organ benign neoplasm		An organ system benign neoplasm disease located_in..[+] An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. [-]
cardiovascular syphilis		A tertiary syphilis that is manifested as aneurysm..[+] A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. [-]
cardiovascular system disease	disease of subdivision of hemolymphoid system;	A disease of anatomical entity which occurs in the..[+] A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. [-]	144 articles	79 matches
carnitine palmitoyltransferase I deficiency	carnitine palmitoyl transferase 1A deficiency; CPT.. [+] carnitine palmitoyl transferase 1A deficiency; CPT I deficiency; CPT1A deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic CPT deficiency type I; carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency; hepatic carnitine palmitoyl transferase I deficiency; [-]	A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. [-]
carnitine palmitoyltransferase II deficiency	CPT-II; lethal neonatal carnitine palmitoyltransfe.. [+] CPT-II; lethal neonatal carnitine palmitoyltransferase II deficiency; infantile carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency; [-]	A lipid metabolism disorder characterized by an en..[+] A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [-]

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