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Disease	Synonyms	Description
Charcot-Marie-Tooth disease type 4	hereditary motor and sensory neuropathy;	A Charcot-Marie-Tooth disease characterized by demyelinating..[+] A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. [-]
Charcot-Marie-Tooth disease type 4A	Charcot-Marie-Tooth neuropathy type 4A; CMT4A; autosomal rec.. [+] Charcot-Marie-Tooth neuropathy type 4A; CMT4A; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. [-]
Charcot-Marie-Tooth disease type 4B1	autosomal recessive Charcot-Marie-Tooth disease with focally.. [+] autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1; Charcot-Marie-Tooth neuropathy type 4B1; CMT4B1; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). [-]
Charcot-Marie-Tooth disease type 4B2	autosomal recessive Charcot-Marie-Tooth disease with focally.. [+] autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2; CMT4B2; Charcot-Marie-Tooth neuropathy type 4B2; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. [-]
Charcot-Marie-Tooth disease type 4B3	CMT4B3;	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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-Tooth diseas.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C; CMT4C; Charcot-Marie-Tooth neuropathy type 4C; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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-Tooth diseas.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; CMT4D; hereditary motor abd sensory neuropathy LOM type; HMSN Lom type; HMSN-Lom; HMSNL; Charcot-Marie-Tooth neuropathy type 4D; HMSN4D; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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 amyelinati.. [+] autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Charcot-Marie-Tooth neuropathy type 4E; Neuropathy, congenital hypomyelinating, 1; CMT4E; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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_material_basis..[+] 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 type 4G; CMT.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4G; CMT4G; hereditary motor and sensory neuropathy Russe type; HMSNR; Charcot-Marie-Tooth neuropathy type 4G; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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 demyelinating Charcot-Marie-Tooth diseas.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H; Charcot-Marie-Tooth neuropathy type 4H; CMT4H; autosomal recessive Charcot-Marie-Tooth disease type 4H; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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 type 4J; CMT.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4J; CMT4J; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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-Tooth diseas.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; CMT4K; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K; [-]	A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+] 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 pyramidal featu.. [+] hereditary motor and sensory neuropathy with pyramidal features; [-]	A Charcot-Marie-Tooth disease that is characterized by pyram..[+] 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 characterized by early..[+] 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 characterized by optic..[+] 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_basis_in X-l..[+] 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 disease type 2.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2W; CMT2W; Charcot-Marie-Tooth neuropathy type 2W; [-]	A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+] 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	CHS; Chediak - Steinbrinck anomaly;	A syndrome characterized by oculocutaneous albinism, immune ..[+] A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene. [-]
Chilblain lupus		A cutaneous form of systemic lupus erythermatosus that is ch..[+] A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. [-]
Christianson syndrome	mental retardation, X-linked syndromic, Christianson type; M.. [+] mental retardation, X-linked syndromic, Christianson type; MRXSCH; X-linked Angelman-like syndrome; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome; mental retardation, microcephaly, epilepsy, and ataxia syndrome; X-linked intellectual disability, South African type; [-]	A syndromic X-linked intellectual disability characterized b..[+] 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); Allergic granul.. [+] Allergic granulomatosis angiitis (disorder); Allergic granulomatosis angiitis; Allergic Granulomatous Angiitis; Churg-Strauss vasculitis; [-]	A vasculitits that is systemic vasculitis realized as blood ..[+] A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. [-]
Clostridium difficile colitis	Pseudomembranous colitis;	A colitis characterized by an overgrowth of Clostridium diff..[+] A colitis characterized by an overgrowth of Clostridium difficile bacteria. [-]
Clouston syndrome	Clouston's hidrotic ectodermal dysplasia ; Clouston's syndro.. [+] Clouston's hidrotic ectodermal dysplasia ; Clouston's syndrome; Hidrotic ectodermal dysplasia syndrome (disorder); ectodermal dysplasia 2, Clouston type; hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome; [-]	n_a
Coats disease	Coats' disease; Coats' syndrome; Exudative retinopathy;	n_a
Cockayne syndrome	Neill-Dingwall syndrome; Cockayne's syndrome;	A syndrome that has_material_basis_in rare mutations in two ..[+] A syndrome 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);	A syndrome that is characterized by skeletal malformations, ..[+] A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. [-]
Coffin-Siris syndrome	Fifth Digit Syndrome; Short Stature-Onychodysplasia.; Dwarfi.. [+] Fifth Digit Syndrome; Short Stature-Onychodysplasia.; Dwarfism-Onychodysplasia; [-]	An autosomal dominant non-syndromic intellectual disability ..[+] An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. [-]
Coffin-Siris syndrome 1	autosomal dominant mental retardation 12; CSS1; fifth digit .. [+] autosomal dominant mental retardation 12; CSS1; fifth digit syndrome; MRD12; [-]	An autosomal dominant non-syndromic intellectual disability ..[+] 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; MRD14;	An autosomal dominant non-syndromic intellectual disability ..[+] 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; MRD15;	An autosomal dominant non-syndromic intellectual disability ..[+] 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; MRD16;	An autosomal dominant non-syndromic intellectual disability ..[+] 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 interstitial k..[+] 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 atrophy, pigme..[+] 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. [-]
Cohen syndrome	COH1; Hypotonia, obesity, and prominent incisors; Pepper syn.. [+] COH1; Hypotonia, obesity, and prominent incisors; Pepper syndrome; [-]	A syndrome characterized by facial dysmorphism, microcephaly..[+] A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2. [-]
Cole-Carpenter syndrome		An osteogenesis imperfecta characterized by craniosynostosis..[+] 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 infection, has_ma..[+] 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		A congenital myopathy that has_material_basis_in homozygous ..[+] A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. [-]
Conn's syndrome	Conn syndrome; primary hyperaldosteronism; primary aldostero.. [+] Conn syndrome; primary hyperaldosteronism; primary aldosteronism; [-]	An adrenal adenoma characterized by the over production of a..[+] An adrenal adenoma characterized by the over production of aldosterone. [-]
Cor pulmonale	pulmonary heart disease; cardiopulmonary disease;	A congestive heart failure that involves a failure of the ri..[+] 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	De Lange syndrome; Brachmann de Lange syndrome;	A syndrome that is characterized by slow growth before and a..[+] A syndrome 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. [-]
Cornelia de Lange syndrome 4	CDLS4; Cornelia De Lange syndrome 4 with or without midline .. [+] CDLS4; Cornelia De Lange syndrome 4 with or without midline brain defects; [-]	A Cornelia de Lange syndrome that has_material_basis_in hete..[+] A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. [-]
Coronavirus infectious disease		A viral infectious disease that has_material_basis_in Corona..[+] A viral infectious disease that has_material_basis_in Coronavirus. [-]
Costello syndrome	Faciocutaneoskeletal Syndrome; FCS SYNDROME;	A RASopathy characterized by craniofacial dysmorphology, car..[+] A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]
Cowden syndrome	Lhermitte-Duclos disease (disorder); multiple hamartoma synd.. [+] Lhermitte-Duclos disease (disorder); multiple hamartoma syndrome; Cowden disease; dysplastic Gangliocytoma of Cerebellum; Lhermitte-Duclos disease; [-]	A syndrome characterized by multiple noncancerous, tumor-lik..[+] A syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. [-]
Cowper gland carcinoma		A male reproductive organ cancer that has_material_basis_in ..[+] 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 syndrome;.. [+] CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob syndrome; Creutzfeldt Jakob disease; Jakob-Creutzfeldt disease; Transmissible virus dementia (disorder); Subacute spongiform encephalopathy; CJD; Creutzfeldt-Jacob disease; Transmissible virus dementia; [-]	n_a
Cri-Du-Chat syndrome	5p deletion syndrome; chromosome 5 short arm deletion syndro.. [+] 5p deletion syndrome; chromosome 5 short arm deletion syndrome; Cri-du-chat syndrome; 5p partial monosomy syndrome (disorder); 5p partial monosomy syndrome; chromosome 5p deletion syndrome; [-]	A syndrome that has_material_basis_in deletion of the end of..[+] A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. [-]
Crigler-Najjar syndrome	Bilirubin UDP glucuronyl transferase deficiency; Crigler Naj.. [+] Bilirubin UDP glucuronyl transferase deficiency; Crigler Najjar syndrome; Crigler-Najjar syndrome, type I (disorder); Crigler-Najjar syndrome, type I; [-]	A bilirubin metabolic disorder that involves a build up of b..[+] 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). [-]

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