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Disease	Synonyms	Description	Articles	Phenotypes
chronic traumatic encephalopathy		A tauopathy that is characterized by an abundance ..[+] A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. [-]
chronic tubotympanic suppurative otitis media		A suppurative otitis media which is an inflammator..[+] A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. [-]
chronic tympanitis		n_a
chronic ulcer of skin	Callous ulcer (morphologic abnormality); Indolent .. [+] Callous ulcer (morphologic abnormality); Indolent ulcer (morphologic abnormality); Callous ulcer; Indolent ulcer; [-]	n_a
chronic urticaria		An urticaria that is characterized by the presence..[+] An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. [-]
chronic venous insufficiency		n_a
chronic wasting disease		n_a
chylocele of tunica vaginalis		n_a
chylomicron retention disease	Anderson disease; CMRD;	A lipid metabolism disorder characterized by malnu..[+] A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. [-]
cicatricial ectropion		n_a
cicatricial entropion		n_a
cicatricial lagophthalmos		n_a
cicatricial pemphigoid	benign mucous membrane pemphigoid; Cicatricial pem.. [+] benign mucous membrane pemphigoid; Cicatricial pemphigoid with ocular involvement; Ocular pemphigoid; benign mucous membrane pemphigoid with ocular involvement; ocular pemphigus; [-]	A pemphigoid that is characterized by skin lesions..[+] A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. [-]
ciliary body cancer	malignant tumor of the Ciliary body; neoplasm of c.. [+] malignant tumor of the Ciliary body; neoplasm of ciliary body (disorder); malignant tumor of ciliary body (disorder); malignant neoplasm of ciliary body; malignant tumor of ciliary body; tumor of the Ciliary body; neoplasm of ciliary body; [-]	n_a
ciliary body disease		An iris disease that is located_in the ciliary bod..[+] An iris disease that is located_in the ciliary body. [-]
ciliary body epithelioid cell melanoma		n_a
ciliary body mixed cell melanoma		n_a
ciliary body spindle cell melanoma	spindle cell melanoma of the Ciliary body;	A ciliary body cancer that is located_in the cilia..[+] A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. [-]
ciliopathy		A genetic disease associated with mutations encodi..[+] A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. [-]	46 articles	74 matches
citrullinemia	deficiency of citrulline-aspartate ligase; ASS def.. [+] deficiency of citrulline-aspartate ligase; ASS deficiency; classic citrullinemia; [-]	An inherited urea cycle disorder that involves the..[+] An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. [-]
classic citrullinemia		A citrullinemia that has_material_basis_in homozyg..[+] A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. [-]
classic congenital mesoblastic nephroma		n_a
classic dopamine transporter deficiency syndrome	classic DTDS; infantile parkinsonism-dystonia 1; P.. [+] classic DTDS; infantile parkinsonism-dystonia 1; PKDYS1; [-]	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. [-]
classic galactosemia	galactose-1-phosphate uridyltransferase deficiency.. [+] galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; GALT deficiency; [-]	A galactosemia that has_material_basis_in homozygo..[+] A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3. [-]
classic pulmonary blastoma		n_a
classic variant of chromophobe renal cell carcinoma		n_a
clear cell acanthoma	Clear cell acanthoma (disorder); Clear cell acanth.. [+] Clear cell acanthoma (disorder); Clear cell acanthoma (morphologic abnormality); Pale (Clear cell) acanthoma; Clear cell acanthoma; [-]	n_a
clear cell adenocarcinoma	Clear cell adenocarcinoma (morphologic abnormality.. [+] Clear cell adenocarcinoma (morphologic abnormality); Clear cell adenocarcinoma NOS (morphologic abnormality); Mesonephroid Clear cell carcinoma; Mesonephroma NOS (morphologic abnormality); Water-Clear cell adenocarcinoma; Water-clear cell adenocarcinoma (morphologic abnormality); Water-clear cell carcinoma; malignant Mesonephroma; Mesonephroma, malignant (morphologic abnormality); Clear cell adenocarcinoma; Mesonephroma; mesonephroma; Mesonephroma, malignant; Water-clear cell adenocarcinoma; Wolffian duct neoplasm; [-]	An adenocarcinoma that derives_from epithelial cel..[+] An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. [-]
clear cell adenofibroma	Clear cell adenofibroma; Clear cell adenofibroma (.. [+] Clear cell adenofibroma; Clear cell adenofibroma (morphologic abnormality); [-]	An adenofibroma that is characterized by the prese..[+] An adenofibroma that is characterized by the presence of cells with clear cytoplasm. [-]
clear cell adenoma	Clear cell adenoma (morphologic abnormality); Clea.. [+] Clear cell adenoma (morphologic abnormality); Clear cell adenoma; [-]	An adenoma that is composed_of cells with a clear ..[+] An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. [-]
clear cell basal cell carcinoma	skin clear cell basal cell carcinoma;	n_a
clear cell chondrosarcoma	Clear cell chondrosarcoma (morphologic abnormality.. [+] Clear cell chondrosarcoma (morphologic abnormality); Clear cell chondrosarcoma; [-]	n_a
clear cell cystadenofibroma	Clear cell cystadenofibroma;	A cystadenofibroma that is characterized by the pr..[+] A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. [-]
clear cell ependymoma		n_a
clear cell hidradenoma	Clear cell myoepithelioma; Clear cell hidradenoma .. [+] Clear cell myoepithelioma; Clear cell hidradenoma (morphologic abnormality); Clear cell Hidradenoma; Clear cell hidradenoma; [-]	n_a
clear cell meningioma	Clear cell meningioma; Clear cell meningioma (morp.. [+] Clear cell meningioma; Clear cell meningioma (morphologic abnormality); [-]	n_a
clear cell renal cell carcinoma	Clear cell carcinoma of kidney (disorder); clear c.. [+] Clear cell carcinoma of kidney (disorder); clear cell kidney carcinoma; conventional renal cell carcinoma; renal clear cell carcinoma; Clear cell carcinoma of kidney; Clear-cell metastatic renal cell carcinoma; conventional (Clear cell) renal cell carcinoma; [-]	A renal cell carcinoma that has_material_basis_in ..[+] A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. [-]
clear cell sarcoma	Clear cell sarcoma (morphologic abnormality); mali.. [+] Clear cell sarcoma (morphologic abnormality); malignant melanoma of soft parts; melanoma, malignant, of soft parts; adult soft part clear cell sarcoma; malignant melanoma of soft tissues (disorder); Clear cell sarcoma; Clear cell sarcoma of soft Parts; malignant melanoma of soft tissues; [-]	A sarcoma that is characterized by solid nests and..[+] A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. [-]
clear cell squamous cell skin carcinoma	Clear cell squamous cell skin carcinoma; Clear cel.. [+] Clear cell squamous cell skin carcinoma; Clear cell squamous cell carcinoma of skin (disorder); Clear cell squamous cell carcinoma of skin; [-]	n_a
clear cell variant infiltrating bladder urothelial carcinoma		n_a
cleft lip	cleft lip, unilateral, complete; Labium leporinum;.. [+] cleft lip, unilateral, complete; Labium leporinum; hare lip; complete unilateral cleft lip; cheiloschisis; [-]	An orofacial cleft that is characterized by a cong..[+] An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. [-]	6 articles
cleft lip-palate-ectodermal dysplasia syndrome	cleft lip/palate-syndactyly-pili torti syndrome; C.. [+] cleft lip/palate-syndactyly-pili torti syndrome; CLPED1; Margarita type of ectodermal dysplasia; syndactyly-ectodermal dysplasia-cleft/lip palate; Zlotogora-Zilberman-Tenenbaum syndrome; [-]	A syndrome characterized by cleft lip, cleft palat..[+] A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. [-]
cleft palate	cleft velum; Palatoschisis; Uranostaphyloschisis (.. [+] cleft velum; Palatoschisis; Uranostaphyloschisis (disorder); [-]	An orofacial cleft characterized by a fissure of t..[+] An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. [-]	11 articles
cleft palate, cardiac defects, and intellectual disabillity	CPCMR; cleft palate, cardiac defects, and mental r.. [+] CPCMR; cleft palate, cardiac defects, and mental retardation; cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies; [-]	A syndrome characterized by a combination of conge..[+] A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. [-]
cleft palate-lateral synechia syndrome	CPLS syndrome; syngnathia;	A physical disorder that is characterized by fusio..[+] A physical disorder that is characterized by fusion of maxilla and mandible. [-]
cleft soft palate	cleft velum; cleft velum palatinum; soft cleft pal.. [+] cleft velum; cleft velum palatinum; soft cleft palate; [-]	A cleft palate that is characterized as a fissure ..[+] A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. [-]
cleidocranial dysplasia	cleidocranial dysostosis; Marie-Sainton Disease;	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. [-]
clitoris cancer	carcinoma of Clitoris; clitoral cancer; malignant .. [+] carcinoma of Clitoris; clitoral cancer; malignant neoplasm of clitoris (disorder); malignant tumor of Clitoris; Clitoral Ca; malignant neoplasm of clitoris; [-]	A vulva cancer that is located_in the clitoris.
clivus chondroid chordoma	Chondroid Chordoma of the Clivus;	A chondroid chordoma and chordoma of the clivus th..[+] A chondroid chordoma and chordoma of the clivus that is located_in the clivus. [-]
clivus chordoma	Chordoma of Clivus;	A chordoma of skull base that is located in the cl..[+] A chordoma of skull base that is located in the clivus. [-]

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