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Disease	Synonyms	Description
Charcot-Marie-Tooth disease type 4B3	CMT4B3;	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. [-]
Charcot-Marie-Tooth disease type 4C	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C; Charcot-Marie-Tooth neuropathy type 4C; CMT4C; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. [-]
Charcot-Marie-Tooth disease type 4D	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; Charcot-Marie-Tooth neuropathy type 4D; CMT4D; hereditary motor abd sensory neuropathy LOM type; HMSN Lom type; HMSN-Lom; HMSN4D; HMSNL; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. [-]
Charcot-Marie-Tooth disease type 4E	autosomal recessive congenital hypomyelinating or .. [+] autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Charcot-Marie-Tooth neuropathy type 4E; CMT4E; Neuropathy, congenital hypomyelinating, 1; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. [-]
Charcot-Marie-Tooth disease type 4F	CMT4F;	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. [-]
Charcot-Marie-Tooth disease type 4G	autosomal recessive Charcot-Marie-Tooth disease ty.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4G; Charcot-Marie-Tooth neuropathy type 4G; CMT4G; hereditary motor and sensory neuropathy Russe type; HMSNR; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. [-]
Charcot-Marie-Tooth disease type 4H	autosomal recessive Charcot-Marie-Tooth disease ty.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4H; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H; Charcot-Marie-Tooth neuropathy type 4H; CMT4H; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). [-]
Charcot-Marie-Tooth disease type 4J	autosomal recessive Charcot-Marie-Tooth disease ty.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4J; CMT4J; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. [-]
Charcot-Marie-Tooth disease type 4K	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K; CMT4K; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. [-]
Charcot-Marie-Tooth disease type 5	hereditary motor and sensory neuropathy with pyram.. [+] hereditary motor and sensory neuropathy with pyramidal features; [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. [-]
Charcot-Marie-Tooth disease type 6	hereditary motor and sensory neuropathy type 6;	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. [-]
Charcot-Marie-Tooth disease type 7		A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. [-]
Charcot-Marie-Tooth disease type X	Cowchock syndrome; COWCK;	A Charcot-Marie-Tooth disease that has_material_ba..[+] A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. [-]
Charcot-Marie-Tooth disease, axonal type 2W	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2W; Charcot-Marie-Tooth neuropathy type 2W; CMT2W; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. [-]
Charlevoix-Saguenay spastic ataxia		n_a
Chediak-Higashi syndrome	Chediak - Steinbrinck anomaly; CHS;	An autosomal recessive disease characterized by oc..[+] An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has material basis in mutations in the CHS1 gene. [-]
Chilblain lupus		n_a
Christianson syndrome	mental retardation, microcephaly, epilepsy, and at.. [+] mental retardation, microcephaly, epilepsy, and ataxia syndrome; mental retardation, X-linked syndromic, Christianson type; MRXSCH; X-linked Angelman-like syndrome; X-linked intellectual disability, South African type; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. [-]
Churg-Strauss syndrome	Allergic granulomatosis angiitis (disorder); Aller.. [+] Allergic granulomatosis angiitis (disorder); Allergic Granulomatous Angiitis; Churg-Strauss vasculitis; [-]	A vasculitits that is systemic vasculitis realized..[+] A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. [-]
Chuvash polycythemia	autosomal recessive benign erythrocytosis; Chuvash.. [+] autosomal recessive benign erythrocytosis; Chuvash erythromatosis; Chuvash type polycythemia; familial erythrocytosis 2; [-]	n_a
Clostridium difficile colitis	Pseudomembranous colitis;	A colitis characterized by an overgrowth of Clostr..[+] A colitis characterized by an overgrowth of Clostridium difficile bacteria. [-]
Clouston syndrome	Clouston's hidrotic ectodermal dysplasia ; Clousto.. [+] Clouston's hidrotic ectodermal dysplasia ; Clouston's syndrome; hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome (disorder); [-]	n_a
Coats disease	Coats' disease; Coats' syndrome; Exudative retinop.. [+] Coats' disease; Coats' syndrome; Exudative retinopathy; [-]	n_a
Cockayne syndrome	Cockayne's syndrome; Neill-Dingwall syndrome;	An autosomal recessive disease that has material b..[+] An autosomal recessive disease that has material basis in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. [-]
Coffin-Lowry syndrome	Coffin-Lowry syndrome (disorder);	n_a
Coffin-Siris syndrome	Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Sh.. [+] Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Short Stature-Onychodysplasia.; [-]	A genetic disease that is characterized by underde..[+] A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. [-]
Coffin-Siris syndrome 1	autosomal dominant mental retardation 12; CSS1; fi.. [+] autosomal dominant mental retardation 12; CSS1; fifth digit syndrome; MRD12; [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3. [-]
Coffin-Siris syndrome 2	autosomal dominant mental retardation 14; CSS2; MR.. [+] autosomal dominant mental retardation 14; CSS2; MRD14; [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11. [-]
Coffin-Siris syndrome 3	autosomal dominant mental retardation 15; CSS3; MR.. [+] autosomal dominant mental retardation 15; CSS3; MRD15; [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23. [-]
Coffin-Siris syndrome 4	autosomal dominant mental retardation 16; CSS4; MR.. [+] autosomal dominant mental retardation 16; CSS4; MRD16; [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2. [-]
Cogan syndrome	Cogan's syndrome; diffuse interstitual keratitis;	An eye disease characterized by nonsyphilitic inte..[+] An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [-]
Cogan-Reese syndrome		An eye disease characterized by variable iris atro..[+] An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. [-]
Cole-Carpenter syndrome		An osteogenesis imperfecta characterized by cranio..[+] An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. [-]
Colorado tick fever	Tick fever, American mountain;	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. [-]
Compton-North congenital myopathy		n_a
Conn's syndrome	Conn syndrome; primary aldosteronism; primary hype.. [+] Conn syndrome; primary aldosteronism; primary hyperaldosteronism; [-]	An adrenal admenoma characterized by over producti..[+] An adrenal admenoma characterized by over production of aldosterone. [-]
Cor pulmonale	cardiopulmonary disease; pulmonary heart disease;	A congestive heart failure that involves a failure..[+] A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. [-]
Cornelia de Lange syndrome	Brachmann de Lange syndrome; De Lange syndrome;	A genetic disease that is characterized by slow gr..[+] A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. [-]
Costello syndrome	Faciocutaneoskeletal Syndrome; FCS SYNDROME;	A syndrome characterized by craniofacial dysmorpho..[+] A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]
Cowden disease	dysplastic Gangliocytoma of Cerebellum; Lhermitte-.. [+] dysplastic Gangliocytoma of Cerebellum; Lhermitte-Duclos disease (disorder); multiple hamartoma syndrome; [-]	An autosomal dominant disease characterized by mul..[+] An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. [-]
Cowper gland carcinoma		A male reproductive organ cancer that has_material..[+] A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. [-]
Creutzfeldt-Jakob disease	CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob.. [+] CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob syndrome; Creutzfeldt Jakob disease; Creutzfeldt-Jacob disease; Jakob-Creutzfeldt disease; Subacute spongiform encephalopathy; Transmissible virus dementia (disorder); [-]	n_a
Cri-Du-Chat syndrome	5p deletion syndrome; 5p partial monosomy syndrome.. [+] 5p deletion syndrome; 5p partial monosomy syndrome (disorder); chromosome 5 short arm deletion syndrome; chromosome 5p deletion syndrome; Cri-du-chat syndrome; [-]	n_a
Crigler-Najjar syndrome	Bilirubin UDP glucuronyl transferase deficiency; C.. [+] Bilirubin UDP glucuronyl transferase deficiency; Crigler Najjar syndrome; Crigler-Najjar syndrome, type I (disorder); [-]	A bilirubin metabolic disorder that involves a bui..[+] A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). [-]
Crimean-Congo hemorrhagic fever	CHF Congo virus; Congo-Crimean Hemorrhagic Fever; .. [+] CHF Congo virus; Congo-Crimean Hemorrhagic Fever; Crimean hemorrhagic fever [CHF Congo virus]; [-]	A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. [-]
Crohn's colitis		An inflammatory bowel disease characterized by inf..[+] An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. [-]
Crohn's disease	Crohn disease; Crohn's disease of colon (disorder).. [+] Crohn disease; Crohn's disease of colon (disorder); Crohn's disease of large bowel; Granulomatous Colitis; Pediatric Crohn's disease; [-]	An intestinal disease that involves inflammation l..[+] An intestinal disease that involves inflammation located_in intestine. [-]
Cronkhite-Canada syndrome	gastric Cronkhite Canada polyposis;	n_a
Crouzon syndrome	Craniofacial Dysostosis; Crouzon's disease;	A craniosynostosis that involves premature fusion ..[+] A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. [-]
Crouzon syndrome-acanthosis nigricans syndrome	CAN; Crouzon-dermoskeletal syndrome; Crouzonodermo.. [+] CAN; Crouzon-dermoskeletal syndrome; Crouzonodermoskeletal syndrome; [-]	An autosomal dominant disease characterized by Cro..[+] An autosomal dominant disease characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. [-]

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