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Disease	Synonyms	Description	Articles	Phenotypes
Charcot-Marie-Tooth disease type 4D	hereditary motor and sensory neuropathy LOM type; .. [+] hereditary motor and sensory neuropathy LOM type; HMSN-Lom; HMSN4D; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; CMT4D; hereditary motor abd sensory neuropathy LOM type; HMSN Lom type; HMSNL; Charcot-Marie-Tooth neuropathy type 4D; [-]	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; Neuropathy, congenital hypomyelinating, 1; CMT4E; [-]	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; CMT4G; hereditary motor and sensory neuropathy Russe type; HMSNR; Charcot-Marie-Tooth neuropathy type 4G; [-]	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 demyelinating Charcot-Marie-To.. [+] 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_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; 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_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. [-]	1 articles
Charcot-Marie-Tooth disease, axonal type 2W	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] 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_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		An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. [-]
Chediak-Higashi syndrome	CHS; Chediak - Steinbrinck anomaly;	A syndrome characterized by oculocutaneous albinis..[+] A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. [-]
Chilblain lupus		A cutaneous form of systemic lupus erythermatosus ..[+] 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. [-]
Chlamydia pneumonia		A bacterial pneumonia has_material_basis_in Chlamy..[+] A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. [-]
Christianson syndrome	mental retardation, X-linked syndromic, Christians.. [+] 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 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 granulomatosis angiitis; 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. [-]
Clark-Baraitser syndrome	autosomal dominant intellectual disability 49; aut.. [+] autosomal dominant intellectual disability 49; autosomal dominant mental retardation 49; Baraitser syndrome; CLABARS; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. [-]
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 syndrome (disorder); ectodermal dysplasia 2, Clouston type; hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome; [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. [-]
Coats disease	Coats' disease; Coats' syndrome; Exudative retinop.. [+] Coats' disease; Coats' syndrome; Exudative retinopathy; [-]	n_a	1 articles
Cockayne syndrome	Cockayne's syndrome; Neill-Dingwall syndrome;	A syndrome that is characterized by an abnormally ..[+] A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. [-]
Cockayne syndrome A	Cockayne syndrome type 1; Cockayne syndrome type I.. [+] Cockayne syndrome type 1; Cockayne syndrome type I; [-]	A Cockayne syndrome that has_material_basis_in hom..[+] A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. [-]
Cockayne syndrome B	Cockayne syndrome 2; Cockayne syndrome type II;	A Cockayne syndrome that is characterized by sever..[+] A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. [-]
Coffin-Lowry syndrome	Coffin-Lowry syndrome (disorder);	A syndrome that is characterized by skeletal malfo..[+] 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-Onychodysplasi.. [+] Fifth Digit Syndrome; Short Stature-Onychodysplasia.; Dwarfism-Onychodysplasia; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. [-]	2 articles	6 matches
Coffin-Siris syndrome 1	autosomal dominant mental retardation 12; CSS1; fi.. [+] autosomal dominant mental retardation 12; CSS1; fifth digit syndrome; MRD12; [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. [-]
Coffin-Siris syndrome 10	CSS10;	A Coffin-Siris syndrome characterized by mild to s..[+] A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. [-]
Coffin-Siris syndrome 11	CSS11;	A Coffin-Siris syndrome characterized by global de..[+] A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. [-]
Coffin-Siris syndrome 12	CSS12;	A Coffin-Siris syndrome characterized by global de..[+] A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. [-]
Coffin-Siris syndrome 2	autosomal dominant mental retardation 14; CSS2; MR.. [+] autosomal dominant mental retardation 14; CSS2; MRD14; [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. [-]
Coffin-Siris syndrome 3	autosomal dominant mental retardation 15; CSS3; MR.. [+] autosomal dominant mental retardation 15; CSS3; MRD15; [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. [-]
Coffin-Siris syndrome 4	autosomal dominant mental retardation 16; CSS4; MR.. [+] autosomal dominant mental retardation 16; CSS4; MRD16; [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. [-]
Coffin-Siris syndrome 5	CSS5;	A Coffin-Siris syndrome characterized by delayed p..[+] A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. [-]
Coffin-Siris syndrome 6		A Coffin-Siris syndrome that is characterized by s..[+] A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that\nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. [-]
Coffin-Siris syndrome 7	CSS7;	A Coffin-Siris syndrome characterized by global de..[+] A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. [-]
Coffin-Siris syndrome 8	CSS8;	A Coffin-Siris syndrome characterized by variable ..[+] A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. [-]
Coffin-Siris syndrome 9	autosomal dominant mental retardation 27; MRD27; a.. [+] autosomal dominant mental retardation 27; MRD27; autosomal dominant non-syndromic intellectual disability 27; [-]	An Coffin-Siris syndrome characterized by mild int..[+] An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. [-]
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. [-]
Cohen syndrome	COH1; Hypotonia, obesity, and prominent incisors; .. [+] COH1; Hypotonia, obesity, and prominent incisors; Pepper syndrome; [-]	A syndrome characterized by facial dysmorphism, mi..[+] 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 the VPS13B gene on chromosome 8q22.2. [-]
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	congenital myopathy 12;	A congenital myopathy that has_material_basis_in h..[+] 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.. [+] Conn syndrome; primary hyperaldosteronism; primary aldosteronism; [-]	An adrenal adenoma characterized by the over produ..[+] 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..[+] 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 be..[+] 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 1		A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. [-]
Cornelia de Lange syndrome 2		A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. [-]

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