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Disease	Synonyms	Description	Articles	Phenotypes
carnitine-acylcarnitine translocase deficiency	CACT deficiency; CACTD;	A lipid metabolism disorder characterized by impai..[+] A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. [-]
carotenemia	hypercarotinemia;	An acquired metabolic disease that is characterize..[+] An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. [-]
carotid artery disease	disorder of carotid artery (disorder); disorder of.. [+] disorder of carotid artery (disorder); disorder of carotid artery; [-]	n_a
carotid artery dissection	Carotid artery dissection (disorder); Dissection o.. [+] Carotid artery dissection (disorder); Dissection of carotid artery; Carotid artery dissection; [-]	n_a
carotid artery occlusion	Occlusion and stenosis of carotid artery;	n_a
carotid artery thrombosis	Carotid artery thrombosis; Carotid artery thrombos.. [+] Carotid artery thrombosis; Carotid artery thrombosis (disorder); [-]	n_a
carotid body cancer	malignant Carotid body Paraganglioma; malignant ca.. [+] malignant Carotid body Paraganglioma; malignant carotid body tumor (morphologic abnormality); cancer of carotid body; malignant carotid body tumor; [-]	A vascular cancer that is characterized by an enca..[+] A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. [-]
carotid stenosis	Carotid artery stenosis (disorder); Stenosis, caro.. [+] Carotid artery stenosis (disorder); Stenosis, carotid artery; Carotid artery stenosis; [-]	n_a
carp allergy	Cyprinus carpio fish allergy;	A fish allergy triggered by Cyprinus carpio.
carpal tunnel syndrome	carpal tunnel median neuropathy; Carpal tunnel syn.. [+] carpal tunnel median neuropathy; Carpal tunnel syndrome; Carpal tunnel syndrome (disorder); Median nerve entrapment; Median nerve entrapment (disorder); CTS - Carpal tunnel syndrome; [-]	A nerve compression syndrome characterized by pres..[+] A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. [-]
carpal tunnel syndrome 1	CTS1;	A carpal tunnel syndrome that has_material_basis_i..[+] A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. [-]
carpal tunnel syndrome 2	CTS2;	A carpal tunnel syndrome that has_material_basis_i..[+] A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. [-]
cartilage cancer		A connective tissue tumor that can be a benign cho..[+] A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. [-]
cartilage disease	Chondropathy; Cartilage disorder;	A connective tissue disease that is located_in car..[+] A connective tissue disease that is located_in cartilage. [-]
cartilage-hair hypoplasia	McKusick type metaphyseal chondrodysplasia; Metaph.. [+] McKusick type metaphyseal chondrodysplasia; Metaphyseal chondrodysplasia, McKusick type; CHH; [-]	An ectodermal dysplasia characterized by short-lim..[+] An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. [-]
cascade stomach	Hourglass stricture or stenosis of stomach;	n_a
castration-resistant prostate carcinoma		A prostate carcinoma that is characterized by cont..[+] A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. [-]
cat-scratch disease	Debre's Syndrome; Debre-Mollaret Syndrome; Foshay-.. [+] Debre's Syndrome; Debre-Mollaret Syndrome; Foshay-Mollaret Cat Scratch Fever; benign lymphoreticulosis; cat scratch fever; [-]	A bartonellosis that results_in infection located_..[+] A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. [-]
cataract		A lens disease characterized by clouding of the le..[+] A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. [-]	20 articles	46 matches
cataract 1 multiple types	cataract 1, multiple types, with or without microc.. [+] cataract 1, multiple types, with or without microcornea; CZP1; zonular pulverulent cataract 1; CAE1; CTRCT1; Duffy linked cataract; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. [-]	2 articles
cataract 10 multiple types	CCZS; congenital zonular cataract with sutural opa.. [+] CCZS; congenital zonular cataract with sutural opacities; CTRCT10; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. [-]
cataract 11 multiple types	CPP4; CTPP4; CTRCT11; posterior polar cataract 4;	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. [-]
cataract 12 multiple types	CTRCT12;	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. [-]
cataract 13 with adult i phenotype	CTRCT13;	A cataract that has_material_basis_in homozygous o..[+] A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. [-]
cataract 14 multiple types	CTRCT14; CZP3; CAE3; zonular pulverulent cataract .. [+] CTRCT14; CZP3; CAE3; zonular pulverulent cataract 3; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. [-]	2 articles
cataract 15 multiple types	CTRCT15;	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. [-]	2 articles
cataract 16 multiple types	CTRCT16; posterior polar cataract 2; CTPP2;	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. [-]
cataract 17 multiple types	autosomal recessive congenital nuclear cataract 3;.. [+] autosomal recessive congenital nuclear cataract 3; CATCN3; CTRCT17; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. [-]
cataract 18	autosomal recessive congenital cataract 2; CATC2; .. [+] autosomal recessive congenital cataract 2; CATC2; CTRCT18; cataract 18 autosomal recessive; [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. [-]
cataract 19 multiple types	CTRCT19;	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. [-]
cataract 2 multiple types	cataract 2 multiple types with or without microcor.. [+] cataract 2 multiple types with or without microcornea; CTRCT2; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. [-]
cataract 20 multiple types	CTRCT20;	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. [-]
cataract 21 multiple types	cataract 21 multiple types with or without microco.. [+] cataract 21 multiple types with or without microcornea; CTRCT21; CCA4; congenital cataract Cerulean type 4; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. [-]
cataract 22 multiple types	autosomal recessive congenital nuclear cataract 2;.. [+] autosomal recessive congenital nuclear cataract 2; CATCN2; CTRCT22; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. [-]
cataract 23	CTRCT23; lamellar cataract 23;	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. [-]
cataract 24	anterior polar cataract 24; CTAA2; CTRCT24; anteri.. [+] anterior polar cataract 24; CTAA2; CTRCT24; anterior polar cataract 2; [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 17p13. [-]
cataract 25	CCSSO; central pouch-like cataract with sutural op.. [+] CCSSO; central pouch-like cataract with sutural opacities; central saccular cataract with sutural opacities; CTRCT25; early-onset cataract with Y-shaped suture opacities; [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 15q21-q22. [-]
cataract 26 multiple types	CTRCT26;	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 9q13-q22. [-]
cataract 27	cataract 27 nuclear progressive; CTRCT27;	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the region 2p12. [-]
cataract 28	age-related cortical cataract 1; ARCC1; CTRCT28;	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 6p12-q12. [-]
cataract 29	cataract 29 coralliform;	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 2pter-p24. [-]
cataract 3 multiple types	cataract 3 multiple types with or without microcor.. [+] cataract 3 multiple types with or without microcornea; CTRCT3; CCA2; congenital Cerulean type cataract 2; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. [-]
cataract 30	cataract 30 pulverulent; CTRCT30; Dusty cataract; .. [+] cataract 30 pulverulent; CTRCT30; Dusty cataract; cataract Coppock-like; [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. [-]
cataract 31 multiple types	CTPP3; CTRCT31; CPP3; posterior polar cataract 3;	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. [-]
cataract 32 multiple types	CTAA1; CTPP5; CTRCT32; anterior polar cataract 1; .. [+] CTAA1; CTPP5; CTRCT32; anterior polar cataract 1; posterior polar cataract 5; [-]	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the region 14q22-q23. [-]
cataract 33	cortical cataract 33; CTRCT33;	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. [-]
cataract 34 multiple types	cataract 34 multiple types with or without microco.. [+] cataract 34 multiple types with or without microcornea; CATC3; CTRCT34; autosomal recessive congenital cataract 3; [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. [-]
cataract 35	autosomal recessive congenital nuclear cataract 1;.. [+] autosomal recessive congenital nuclear cataract 1; CATCN1; CTRCT35; cataract 35, congenital nuclear; [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 19q13. [-]
cataract 36	CATC4; autosomal recessive congenital cataract 4; .. [+] CATC4; autosomal recessive congenital cataract 4; CTRCT36; [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. [-]	1 articles	9 matches
cataract 37	CTRCT37; CCA5; congenital cataract cerulean type 5.. [+] CTRCT37; CCA5; congenital cataract cerulean type 5; [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. [-]

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