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Disease	Synonyms	Description	Articles	Phenotypes
central precocious puberty 1	CPPB1;	A central precocious puberty that has_material_bas..[+] A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. [-]
central precocious puberty 2	CPPB2;	A central precocious puberty that has_material_bas..[+] A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. [-]
central pterygium		A progressive peripheral pterygium that is charact..[+] A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. [-]
central retinal artery occlusion		A retinal artery occlusion characterized by blocka..[+] A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. [-]
central retinal vein occlusion	central retinal vein occlusion (disorder);	n_a
central sleep apnea	central sleep apnea syndrome; primary central slee.. [+] central sleep apnea syndrome; primary central sleep apnea; [-]	A sleep apnea that is characterized by a malfuncti..[+] A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. [-]
centronuclear myopathy	myotubular myopathy;	A congenital structural myopathy characterized by ..[+] A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. [-]
centronuclear myopathy 2	CNM2;	An autosomal recessive centronuclear myopathy that..[+] An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. [-]
centronuclear myopathy 6 with fiber-type disproportion	CNM6;	An autosomal recessive centronuclear myopathy that..[+] An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. [-]
centronuclear myopathy X-linked	CNMX; MTM1; myotubular myopathy 1; X-linked myotub.. [+] CNMX; MTM1; myotubular myopathy 1; X-linked myotubular myopathy; XLCNM; XLMTM; [-]	A centronuclear myopathy that has_material_basis_i..[+] A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. [-]
cepacia syndrome	CS;	An opportunistic bacterial infectious disease char..[+] An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. [-]
cephalosporin allergy		A drug allergy that has_allergic_trigger cephalosp..[+] A drug allergy that has_allergic_trigger cephalosporin. [-]
cercarial dermatitis	Sea bather's eruption (disorder); Cutaneous schist.. [+] Sea bather's eruption (disorder); Cutaneous schistosomiasis; Sea bather's eruption; [-]	A schistosomiasis that is a short-term, cutaneous ..[+] A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. [-]
cerebellar angioblastoma	Hemangioblastoma of Cerebellum;	n_a
cerebellar astrocytoma	astrocytoma of Cerebellum;	n_a
cerebellar ataxia		A cerebellar disease characterized by ataxia origi..[+] A cerebellar disease characterized by ataxia originating in the cerebellum. [-]	5 articles
cerebellar ataxia type 41	SCA41;	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. [-]
cerebellar ataxia type 42	SCA42;	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. [-]
cerebellar ataxia type 43	SCA43;	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. [-]
cerebellar ataxia type 47	SCA47;	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. [-]
cerebellar ataxia type 48	SCA48;	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. [-]
cerebellar ataxia type 9	SCA9;	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. [-]
cerebellar ataxia, mental retardation and dysequlibrium syndrome	CAMRQ; Cerebellar Ataxia, Mental Retardation, and .. [+] CAMRQ; Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1); VLDLR Cerebellar Hypoplasia; Uner Tan syndrome; [-]	An syndrome characterized by congenital onset of n..[+] An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. [-]
cerebellar atrophy, visual impairment, and psychomotor retardation	CAVIPMR;	A syndrome that is characterized by cerebellar atr..[+] A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. [-]
cerebellar disease		A brain disease that is characterized by damage to..[+] A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. [-]	6 articles
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay		A syndrome with a cerebellar malformation as a maj..[+] A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. [-]	2 articles
cerebellar hypoplasia		A cerebellar disease that is characterized by a ce..[+] A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. [-]	1 articles
cerebellar liponeurocytoma	Cerebellar liponeurocytoma; Lipomatous Medulloblas.. [+] Cerebellar liponeurocytoma; Lipomatous Medulloblastoma; [-]	A cerebellum cancer that is characterized by consi..[+] A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. [-]
cerebellar medulloblastoma		A cerebellum cancer that begins in the lower part ..[+] A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. [-]
cerebellar vermis medulloblastoma	Vermis Medulloblastoma;	n_a
cerebellofaciodental syndrome	cerebellar-facial-dental syndrome;	A syndrome that is characterized by delayed develo..[+] A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. [-]
cerebellopontine angle meningioma	Cerebellopontine angle meningioma (disorder); Cere.. [+] Cerebellopontine angle meningioma (disorder); Cerebellopontine angle meningioma; meningioma of the Cerebellar Pontine Angle; [-]	n_a
cerebellopontine angle primitive neuroectodermal tumor	Cerebellopontine Angle PNET;	n_a
cerebellopontine angle tumor	Cerebellopontine angle tumor (disorder); neoplasm .. [+] Cerebellopontine angle tumor (disorder); neoplasm of the Cerebellopontine Angle; Cerebellopontine angle tumor; Cerebellopontine angle tumour; cerebellopontine angle tumour; [-]	A brain stem cancer that is characterized by neopl..[+] A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. [-]
cerebellum cancer	malignant tumor of Cerebellum; cerebellar cancer;	n_a
cerebral amyloid angiopathy	dutch hereditary cerebral amyloid angiopathy; Here.. [+] dutch hereditary cerebral amyloid angiopathy; Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder); Cerebral Hemorrhage, Hereditary, with Amyloidosis; Hereditary Cerebral Hemorrhage with Amyloidosis; [-]	An amyloidosis where amyloid protein progressively..[+] An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. [-]
cerebral angioma	hemangioma of Cerebrum;	A brain angioma that is characterized by vascular ..[+] A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. [-]
cerebral arterial disease		n_a
cerebral arteritis	Cerebral arteritis (disorder); Cerebral arteritis;.. [+] Cerebral arteritis (disorder); Cerebral arteritis; [-]	n_a
cerebral artery occlusion		A cerebrovascular disease that is characterized by..[+] A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries. [-]
cerebral atherosclerosis	Cerebral atherosclerosis; Cerebral atherosclerosis.. [+] Cerebral atherosclerosis; Cerebral atherosclerosis (disorder); [-]	n_a
cerebral cavernous malformation	cavernous angiomatous malformations; CCM; familial.. [+] cavernous angiomatous malformations; CCM; familial cavernous angioma; cerebral capillary malformations; [-]	A cerebrovascular disease that is characterized by..[+] A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. [-]
cerebral cavernous malformation 2	CCM2;	A cerebral cavernous malformation that has_materia..[+] A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. [-]
cerebral cavernous malformation 3	CCM3;	A cerebral cavernous malformation that has_materia..[+] A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. [-]
cerebral convexity meningioma	Cerebral Hemispheric Convexity meningioma;	n_a
cerebral creatine deficiency syndrome		An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. [-]	1 articles
cerebral creatine deficiency syndrome 1	CEREBRAL CREATINE DEFICIENCY SYNDROME 1; SLC6A8 de.. [+] CEREBRAL CREATINE DEFICIENCY SYNDROME 1; SLC6A8 deficiency; creatine transporter deficiency; [-]	A cerebral creatine deficiency syndrome that is ch..[+] A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. [-]	1 articles
cerebral degeneration	Brain degeneration;	A brain disease that is characterized by loss of s..[+] A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. [-]	8 articles	4 matches
cerebral falx meningioma	Falcine meningioma;	n_a
cerebral folate receptor alpha deficiency	Neurodegeneration due to cerebral folate transport.. [+] Neurodegeneration due to cerebral folate transport deficiency; [-]	A vitamin metabolic disorder that has_material_bas..[+] A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. [-]

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