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Disease	Synonyms	Description
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	congenital lipoatrophic diabetes; CGL2; Berardinel.. [+] CGL2; congenital lipoatrophic diabetes; 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; BSCL3; Berardinelli-Seip congenital lipodyst.. [+] CGL3; BSCL3; Berardinelli-Seip congenital lipodystrophy type 3 [-]	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; congenital generalised lipodystrophy type 4; .. [+] congenital generalised lipodystrophy type 4; CGL4; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; BSCL4; GCL4; generalized congenital lipodystrophy type 4; Brunzell syndrome AGPAT2-related; generalised congenital lipodystrophy type 4; generalised congenital lipodystrophy with myopathy; 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 CAVIN1 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; isolated congenital controlateral synkinesia; isolated congenital mirror movements; hereditary 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	A syndrome characterized by camptodactyly, tall st..[+] A syndrome 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	Crouzon-dermoskeletal syndrome; Crouzonodermoskele.. [+] Crouzon-dermoskeletal syndrome; Crouzonodermoskeletal 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 2	CNM2	An autosomal recessive centronuclear myopathy that..[+] An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. [-]
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 5	CNM5	An autosomal recessive centronuclear myopathy char..[+] An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. [-]
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. [-]
centronuclear myopathy 4	CNM4	An autosomal dominant centronuclear myopathy that ..[+] An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. [-]
centronuclear myopathy X-linked	CNMX; MTM1; myotubular myopathy 1; X-linked myotub.. [+] CNMX; MTM1; myotubular myopathy 1; X-linked myotubular myopathy; XLCNM; XLMTM [-]	A centronuclear myopathy that has_material_basis_i..[+] A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. [-]
congenital muscular dystrophy-dystroglycanopathy type A	congenital muscular alpha-dystroglycanopathy with .. [+] congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; klissencephaly type 2 with muscular and ocular involvement; MDDGA [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. [-]
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 type A8	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8; MDDGA8; Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. [-]
congenital muscular dystrophy-dystroglycanopathy type A9	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9; MDDGA9; Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. [-]
congenital muscular dystrophy-dystroglycanopathy A14	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14; MDDGA14; Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. [-]
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 A12	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12; MDDGA12; Walker-Warburg syndrome or muscle-eye-brain disease POMK-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. [-]
congenital muscular dystrophy-dystroglycanopathy type A3	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; MDDGA3; Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. [-]
congenital muscular dystrophy-dystroglycanopathy type A1	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; MDDGA1; Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. [-]
congenital muscular dystrophy-dystroglycanopathy type A13	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13; MDDGA13; Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related; Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. [-]
congenital muscular dystrophy-dystroglycanopathy type A10	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10; MDDGA10; Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. [-]
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 muscular dystrophy-dystroglycanopathy type A5	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; MDDGA5; Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. [-]
congenital muscular dystrophy-dystroglycanopathy type A6	congenital muscular dystrophy-dystroglycanopathy w.. [+] congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6; MDDGA6; Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. [-]
cerebrocostomandibular syndrome	cerebro-costo-mandibular syndrome; CCM syndrome; C.. [+] CCM syndrome; cerebro-costo-mandibular syndrome; CCMS; rib gap defects with micrognathia [-]	A syndrome characterized by severe micrognathia, p..[+] A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. [-]
combined malonic and methylmalonic acidemia	combined malonic and methylmalonic aciduria; CMAMM.. [+] combined malonic and methylmalonic aciduria; CMAMMA [-]	An organic acidemia characterized by elevated leve..[+] An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. [-]

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