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Disease	Synonyms	Description
cone-rod dystrophy 7	CORD7	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13. [-]
cone-rod dystrophy 3	CORD3	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22. [-]
cone-rod dystrophy 8	CORD8	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. [-]
cone-rod dystrophy 13	CORD13	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. [-]
cone-rod dystrophy 10	CORD10	A cone-rod dystrophy that has_material_basis_in co..[+] A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. [-]
cone-rod dystrophy 11	CORD11	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. [-]
cone-rod dystrophy 12	CORD12	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. [-]
cone-rod dystrophy 9	CORD9	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. [-]
cone-rod dystrophy 15	CORD15	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. [-]
cone-rod dystrophy 16	CORD16; retinal dystrophy with early macular invol.. [+] CORD16; retinal dystrophy with early macular involvement [-]	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. [-]
cone-rod dystrophy 17	CORD17	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. [-]
cone-rod dystrophy 18	CORD18	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. [-]
cone-rod dystrophy 19	CORD19	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. [-]
cone-rod dystrophy 20	CORD20	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. [-]
CADASIL 1	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 [-]	A CADASIL characterized by migraine, strokes, and ..[+] A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. [-]
CADASIL 2	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 [-]	A CADASIL characterized by stroke, transient ische..[+] A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. [-]
congenital bile acid synthesis defect 5	CBAS5	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. [-]
congenital bile acid synthesis defect 6	CBAS6	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. [-]
congenital bile acid synthesis defect 4	CBAS4; intrahepatic cholestasis with defective con.. [+] CBAS4; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; trihydroxycoprostanic acid in bile [-]	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. [-]
congenital bile acid synthesis defect 2	cholestasis with delta(4)-3-oxosteroid 5-beta-redu.. [+] cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; CBAS2 [-]	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. [-]
congenital bile acid synthesis defect 3	CBAS3; oxysterol 7-alpha-hydroxylase deficiency	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. [-]
congenital bile acid synthesis defect 1	CBAS1	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. [-]
congenital generalized lipodystrophy type 1	CGL1; Berardinelli-Seip Congenital Lipodystrophy, .. [+] CGL1; Berardinelli-Seip Congenital Lipodystrophy, Type 1; Brunzell syndrome AGPAT2-related; BSCL1 [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. [-]
congenital generalized lipodystrophy type 2	CGL2; congenital lipoatrophic diabetes; Berardinel.. [+] congenital lipoatrophic diabetes; CGL2; Berardinelli-Seip congenital lipodystrophy type 2; Brunzell syndrome BSCL2-related; total lipodystrophy and acromegaloid gigantism; Berardinelli-Seip syndrome [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. [-]
congenital generalized lipodystrophy type 3	CGL3; Berardinelli-Seip congenital lipodystrophy t.. [+] CGL3; Berardinelli-Seip congenital lipodystrophy type 3; BSCL3 [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. [-]
congenital generalized lipodystrophy type 4	CGL4; Berardinelli-Seip congenital lipodystrophy t.. [+] CGL4; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; Brunzell syndrome AGPAT2-related; BSCL4; GCL4; generalized congenital lipodystrophy type 4; generalized congenital lipodystrophy with myopathy [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of PTRF on chromosome 17q21.2. [-]
congenital mirror movement disorder	familial congenital controlateral synkinesia; fami.. [+] familial congenital controlateral synkinesia; familial congenital mirror movements; hereditary congenital controlateral synkinesia; hereditary congenital mirror movements; isolated congenital controlateral synkinesia; isolated congenital mirror movements [-]	A movement disease characterized by involuntary mo..[+] A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. [-]
Castleman disease	angiofollicular lymph hyperplasia; angiofollicular.. [+] angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; giant lymph node hyperplasia; lymphoid hamartoma [-]	A lymphoproliferative syndrome characterized by on..[+] A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. [-]
camptodactyly-tall stature-scoliosis-hearing loss syndrome	CATSHL syndrome	An autosomal genetic disease characterized by camp..[+] An autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. [-]
Crouzon syndrome-acanthosis nigricans syndrome	Crouzonodermoskeletal syndrome; Crouzon-dermoskele.. [+] Crouzonodermoskeletal syndrome; Crouzon-dermoskeletal syndrome; CAN [-]	A syndrome characterized by Crouzon-like features,..[+] A syndrome 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. [-]
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 1	CNM1	An autosomal dominant centronuclear myopathy chara..[+] An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. [-]
congenital muscular dystrophy-dystroglycanopathy type A11	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11; MDDGA11; Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. [-]
congenital muscular dystrophy-dystroglycanopathy A7	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; MDDGA7; Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. [-]
congenital muscular dystrophy-dystroglycanopathy type A2	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; MDDGA2; Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. [-]
congenital dyserythropoietic anemia type Ia	CDAN1A; CDA Ia	A congenital dyserythropoietic anemia type I that ..[+] A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. [-]
classic galactosemia	galactose-1-phosphate uridyltransferase deficiency.. [+] galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; GALT deficiency [-]	A galactosemia that has_material_basis_in homozygo..[+] A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3. [-]
cardiofaciocutaneous syndrome 1	CFC1	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. [-]
combined oxidative phosphorylation deficiency 35	COXPD35	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. [-]
combined oxidative phosphorylation deficiency 30	COXPD30	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. [-]
combined oxidative phosphorylation deficiency 5	COXPD5; hypotonia with lactic acidemia and hyperam.. [+] COXPD5; hypotonia with lactic acidemia and hyperammonemia [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. [-]
combined oxidative phosphorylation deficiency 20	COXPD20	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. [-]
combined oxidative phosphorylation deficiency 24	COXPD24	A combined oxidative phosphorylation deficiency ty..[+] A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. [-]
combined oxidative phosphorylation deficiency 7	COXPD7; severe C12ORF65-related combined oxidative.. [+] COXPD7; severe C12ORF65-related combined oxidative phosphorylation defect; severe C12ORF65-related COXPD [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. [-]
combined oxidative phosphorylation deficiency 15	COXPD15	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. [-]
combined oxidative phosphorylation deficiency 12	COXPD12; leukoencephalopathy with thalamus and bra.. [+] COXPD12; leukoencephalopathy with thalamus and brainstem involvement and high lactate; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; LTBL [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. [-]
combined oxidative phosphorylation deficiency 22	COXPD22	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. [-]
combined oxidative phosphorylation deficiency 29	COXPD29	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. [-]
Charcot-Marie-Tooth disease type 2DD	Charcot-Marie-Tooth neuropathy, type 2DD; CMT2DD; .. [+] CMT2DD; Charcot-Marie-Tooth neuropathy, type 2DD; Charcot-Marie-Tooth disease, axonal, type 2DD; ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; ATP1A1-related CMT2 [-]	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. [-]
combined D-2- and L-2-hydroxyglutaric aciduria	combined D-2-hydroxyglutaric aciduria and L-2-hydr.. [+] combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia; combined D,L-2-hydroxyglutaric aciduria; D,L-2-HGA; D,L-2-hydroxyglutaric acidemia; D,L-2-hydroxyglutaric aciduria [-]	A 2-hydroxyglutaric aciduria characterized by neon..[+] A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. [-]

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