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Disease	Synonyms	Description
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 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. [-]
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. [-]
CODAS syndrome	cerebral, ocular, dental, auricular, and skeletal .. [+] cerebral, ocular, dental, auricular, and skeletal syndrome; cerebro-oculo-dento-auriculo-skeletal syndrome [-]	A syndrome characterized by developmental delay, a..[+] A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. [-]
combined saposin deficiency	combined SAP deficiency; encephalopathy due to pro.. [+] combined SAP deficiency; encephalopathy due to prosaposin deficiency; PSAPD [-]	A sphingolipidosis characterized by absence of exp..[+] A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1. [-]
congenital leptin deficiency	LEPD; morbid obesity; obesity due to congenital le.. [+] LEPD; morbid obesity; obesity due to congenital leptin deficiency; leptin deficiency or dysfunction [-]	A syndrome characterized by severe early-onset obe..[+] A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. [-]
craniofacial-deafness-hand syndrome	CDHS; Sommer-Young-Wee-Frye syndrome	A syndrome characterized by a flat facial profile,..[+] A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. [-]
cholesterol-ester transfer protein deficiency	CEPT deficiency; familial hyperalphalipoproteinemi.. [+] CEPT deficiency; familial hyperalphalipoproteinemia [-]	A lipid metabolism disorder characterized by eleva..[+] A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. [-]
congenital dyserythropoietic anemia type I	Congenital dyserythropoietic anemia type 1; congen.. [+] Congenital dyserythropoietic anemia type 1; congenital dyserythropoietic anaemia type I; Congenital dyserythropoietic anaemia type 1; CDA type I; CDA type 1; CDA I [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. [-]
congenital dyserythropoietic anemia type Ib	CDAN1B; CDA, type Ib	A congenital dyserythropoietic anemia type I that ..[+] A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14. [-]
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. [-]
congenital dyserythropoietic anemia type III	congenital dyserythropoietic anaemia type III; Con.. [+] congenital dyserythropoietic anaemia type III; Congenital dyserythropoietic anaemia type 3; CDA type III; CDA type 3; Congenital dyserythropoietic anemia type 3; CDAN3; CDA III; anaemia with multinucleated erythroblasts; anemia with multinucleated erythroblasts; hereditary benign erythroreticulosis [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. [-]
congenital dyserythropoietic anemia type IV	CDA type 4; Congenital dyserythropoietic anemia ty.. [+] CDA type 4; Congenital dyserythropoietic anemia type 4; Congenital dyserythropoietic anaemia due to KLF1 mutation; Congenital dyserythropoietic anaemia type 4; CDA due to KLF1 mutation; Congenital dyserythropoietic anemia due to KLF1 mutation; congenital dyserythropoietic anaemia type IV; CDAN4; CDA type IV; CDA IV [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. [-]
congenital dyserythropoietic anemia type II	Congenital dyserythropoietic anemia type 2; CDAN2; .. [+] CDAN2; Congenital dyserythropoietic anemia type 2; CDA type 2; congenital dyserythropoietic anaemia type II; Congenital dyserythropoietic anaemia type 2; CDA type II; CDA II; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); SEC23B-CDG [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. [-]
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. [-]
cardiofaciocutaneous syndrome 2	CFC2	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. [-]
cardiofaciocutaneous syndrome 3	CFC3	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. [-]
cardiofaciocutaneous syndrome 4	CFC4	A cardiofaciocutaneous syndrome that has_material_..[+] A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. [-]
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 21	COXPD21	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. [-]
combined oxidative phosphorylation deficiency 38	COXPD38	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. [-]
combined oxidative phosphorylation deficiency 13	COXPD13	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. [-]
combined oxidative phosphorylation deficiency 25	COXPD25	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. [-]
combined oxidative phosphorylation deficiency 16	COXPD16; infantile hypertrophic cardiomyopathy due.. [+] COXPD16; infantile hypertrophic cardiomyopathy due to MRPL44 deficiency [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. [-]
combined oxidative phosphorylation deficiency 28	COXPD28; neonatal severe cardiopulmonary failure d.. [+] COXPD28; neonatal severe cardiopulmonary failure due to mitochondrial methylation defect [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. [-]
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 9	COXPD9	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. [-]
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 1	COXPD1; early fatal progressive hepatoencephalopat.. [+] COXPD1; early fatal progressive hepatoencephalopathy; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; hepatoencephalopathy due to COXPD1 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. [-]
combined oxidative phosphorylation deficiency 39	COXPD39	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. [-]
combined oxidative phosphorylation deficiency 19	COXPD19; severe neonatal lactic acidosis due to NF.. [+] COXPD19; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. [-]
combined oxidative phosphorylation deficiency 14	COXPD14	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. [-]
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 8	COXPD8	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. [-]
combined oxidative phosphorylation deficiency 10	COXPD10; infantile hypertrophic mitochondrial card.. [+] COXPD10; infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. [-]
combined oxidative phosphorylation deficiency 11	COXPD11; infantile encephaloneuromyopathy due to m.. [+] COXPD11; infantile encephaloneuromyopathy due to mitochondrial translation defect [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. [-]
combined oxidative phosphorylation deficiency 36	COXPD36	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. [-]
combined oxidative phosphorylation deficiency 2	COXPD2; agenesis of corpus callosum with dysmorphi.. [+] COXPD2; agenesis of corpus callosum with dysmorphism and fatal lactic acidosis [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. [-]
combined oxidative phosphorylation deficiency 18	COXPD18; growth and developmental delay-hypotonia-.. [+] COXPD18; growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. [-]

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