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Disease	Synonyms	Description
Charcot-Marie-Tooth disease type 1C	Charcot-Marie-Tooth neuropathy type 1C; CMT slow n.. [+] Charcot-Marie-Tooth neuropathy type 1C; CMT slow nerve conduction type C; CMT1C; HMSN IC; HMSN1C; neuropathy hereditary motor and sensory type 1C; [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. [-]
Charcot-Marie-Tooth disease type 1D	Charcot-Marie-Tooth neuropathy type 1D; CMT1D; her.. [+] Charcot-Marie-Tooth neuropathy type 1D; CMT1D; hereditary motor and sensory neuropathy 1D; HMSN ID; HMSN1D; [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). [-]
Charcot-Marie-Tooth disease type 1E	autosomal dominant Charcot-Marie-Tooth neuropathy .. [+] autosomal dominant Charcot-Marie-Tooth neuropathy and deafness; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease-deafness; CMT1E; [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22) [-]
Charcot-Marie-Tooth disease type 1F	Charcot-Marie-Tooth neuropathy type 1F; CMT1F;	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. [-]
Charcot-Marie-Tooth disease type 2	hereditary motor and sensory neuropathy Guadalajar.. [+] hereditary motor and sensory neuropathy Guadalajara neuronal type; hereditary motor and sensory neuropathy Okinawa type; hereditary motor and sensory neuropathy type 2; [-]	A Charcot-Marie-Tooth disease characterized by abn..[+] A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [-]
Charcot-Marie-Tooth disease type 2A1	autosomal dominant Charcot-Marie-Tooth disease axo.. [+] autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; hereditary motor and sensory neuropathy IIA1; HMSN IIA1; HMSN2A1; [-]	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 KIF1B gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease type 2A2A	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth neuronal type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; CMT2A2; hereditary motor and sensory neuropathy IIA2; HMSN IIA2; HMSN2A2; CMT2A2A; [-]	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 MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2B	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2B; Charcot-Marie-Tooth neuropathy type 2B; CMT2B; hereditary motor and sensory nueropathy IIB; HMSN IIB; HMSN2B; [-]	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 RAB7 gene on chromosome 3q21. [-]
Charcot-Marie-Tooth disease type 2B1	autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1; autosomal recessive axonal CMT4C1; autosomal recessive Charcot-Marie-Tooth disease type 2B1; Charcot-Marie-Tooth disease neuronal type 2B1; Charcot-Marie-Tooth neuropathy type 2B1; CMT2B1; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. [-]
Charcot-Marie-Tooth disease type 2B2	AR-CMT2B2; ARCMT2B; autosomal recessive axonal Cha.. [+] AR-CMT2B2; ARCMT2B; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2; Autosomal recessive axonal CMT4C3; Charcot-Marie-Tooth disease neuronal type 2B2; Charcot-Marie-Tooth neuropathy type 2B2; CMT2B2; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. [-]
Charcot-Marie-Tooth disease type 2D	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2D; Charcot-Marie-Tooth disease neuronal type 2D; Charcot-Marie-Tooth neuropathy type 2D; CMT2D; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. [-]
Charcot-Marie-Tooth disease type 2DD	ATP1A1-related autosomal dominant Charcot-Marie-To.. [+] ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; ATP1A1-related CMT2; Charcot-Marie-Tooth disease, axonal, type 2DD; Charcot-Marie-Tooth neuropathy, type 2DD; CMT2DD; [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. [-]
Charcot-Marie-Tooth disease type 2E	autosomal dominant Charcot-Marie-Tooth disease typ.. [+] autosomal dominant Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth neuropathy type 2E; CMT2E; [-]	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 light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. [-]
Charcot-Marie-Tooth disease type 2I	Charcot-Marie-Tooth neuropathy type 2I; CMT2I;	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 myelin protein-zero gene (MPZ) on chromosome 1q23. [-]
Charcot-Marie-Tooth disease type 2J	Charcot-Marie-Tooth disease type 2 with hearing lo.. [+] Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth neuropathy type 2J; CMT2J; [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. [-]
Charcot-Marie-Tooth disease type 2R	autosomal recessive axonal Charcot-Marie-Tooth dis.. [+] autosomal recessive axonal Charcot-Marie-Tooth disease type 2R; Charcot-Marie-Tooth neuropathy type 2R; CMT2R; [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. [-]
Charcot-Marie-Tooth disease type 2Y	autosomal dominant axonal Charcot-Marie-Tooth type.. [+] autosomal dominant axonal Charcot-Marie-Tooth type 2Y; autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation; Charcot-Marie-Tooth neuropathy type 2Y; CMT2 due to VCP mutation; CMT2Y; [-]	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 VCP gene on chromosome 9p13. [-]
Charcot-Marie-Tooth disease type 3	DEJERINE-SOTTAS NEUROPATHY; DEJERINE-SOTTAS SYNDRO.. [+] DEJERINE-SOTTAS NEUROPATHY; DEJERINE-SOTTAS SYNDROME; [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. [-]
Charcot-Marie-Tooth disease type 4	hereditary motor and sensory neuropathy;	A Charcot-Marie-Tooth disease characterized by dem..[+] 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	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth neuropathy type 4A; CMT4A; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] 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 wi.. [+] 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_mate..[+] 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 wi.. [+] autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2; Charcot-Marie-Tooth neuropathy type 4B2; CMT4B2; [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] 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_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;	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. [-]
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; Allergic granulomatosis angiitis; [-]	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. [-]
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 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 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. [-]

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