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Disease	Synonyms	Description	Articles	Phenotypes
congenital disorder of glycosylation type IIm	congenital disorder of glycosylation type 2m; deve.. [+] congenital disorder of glycosylation type 2m; developmental and epileptic encephalopathy 22; epileptic encephalopathy, early infantile, 22; SLC35A2-CDG; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
congenital disorder of glycosylation type IIn	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIn; CDG IIn; CDG syndrome type IIn; CDG2N; CDGIIdn; Congenital disorder of glycosylation type 2n; SLC39A8-CDG; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. [-]
congenital disorder of glycosylation type IIo	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIo; CCDC115-CDG; CDG IIo; CDG syndrome type IIo; CDG2O; CDGIIdo; Congenital disorder of glycosylation type 2o; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. [-]
congenital disorder of glycosylation type IIp	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIp; CDG IIp; CDG syndrome type IIp; CDG2P; CDGIIdp; Congenital disorder of glycosylation type 2p; TMEM199-CDG; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. [-]
congenital disorder of glycosylation type IIq	CDG IIq; CDG2Q; CDGIIdq; COG2-CDG; COG2-related co.. [+] CDG IIq; CDG2Q; CDGIIdq; COG2-CDG; COG2-related congenital disorder of glycosylation; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. [-]
congenital dyserythropoietic anemia	congenital dyshaematopoietic anaemia;	A congenital hemolytic anemia characterized by ine..[+] A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [-]
congenital dyserythropoietic anemia type I	CDA I; CDA type 1; CDA type I; Congenital dyseryth.. [+] CDA I; CDA type 1; CDA type I; Congenital dyserythropoietic anaemia type 1; congenital dyserythropoietic anaemia type I; Congenital dyserythropoietic anemia type 1; [-]	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 II	CDA II; CDA type II; Congenital dyserythropoietic .. [+] CDA II; CDA type II; Congenital dyserythropoietic anaemia type 2; congenital dyserythropoietic anaemia type II; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); SEC23B-CDG; CDA type 2; Congenital dyserythropoietic anemia type 2; CDAN2; [-]	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. [-]
congenital dyserythropoietic anemia type III	anaemia with multinucleated erythroblasts; anemia .. [+] anaemia with multinucleated erythroblasts; anemia with multinucleated erythroblasts; CDA III; CDAN3; Congenital dyserythropoietic anemia type 3; hereditary benign erythroreticulosis; CDA type 3; CDA type III; Congenital dyserythropoietic anaemia type 3; congenital dyserythropoietic anaemia type III; [-]	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 IV; CDA type IV; CDAN4; congenital dyserythrop.. [+] CDA IV; CDA type IV; CDAN4; congenital dyserythropoietic anaemia type IV; Congenital dyserythropoietic anemia due to KLF1 mutation; CDA due to KLF1 mutation; Congenital dyserythropoietic anaemia type 4; Congenital dyserythropoietic anaemia due to KLF1 mutation; Congenital dyserythropoietic anemia type 4; CDA type 4; [-]	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 Ia	CDA Ia; CDAN1A;	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 Ib	CDA, type Ib; CDAN1B;	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 epulis	Congenital Epulides; Congenital Epulis;	n_a
congenital fibrosarcoma	Infantile fibrosarcoma (disorder); Infantile fibro.. [+] Infantile fibrosarcoma (disorder); Infantile fibrosarcoma (morphologic abnormality); Infantile fibrosarcoma; [-]	n_a
congenital fibrosis of the extraocular muscles	Tukel syndrome;	An ocular motility disease that is characterized b..[+] An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. [-]
congenital fibrosis of the extraocular muscles 1		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. [-]
congenital fibrosis of the extraocular muscles 2		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. [-]
congenital fibrosis of the extraocular muscles 3A		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. [-]
congenital fibrosis of the extraocular muscles 5		A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. [-]
congenital generalized lipodystrophy	Beradinelli-Seip syndrome;	A lipodystrophy that is characterized by extreme s..[+] A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. [-]
congenital generalized lipodystrophy type 1	Berardinelli-Seip Congenital Lipodystrophy, Type 1.. [+] Berardinelli-Seip Congenital Lipodystrophy, Type 1; Brunzell syndrome AGPAT2-related; CGL1; 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	Berardinelli-Seip congenital lipodystrophy type 2;.. [+] Berardinelli-Seip congenital lipodystrophy type 2; Brunzell syndrome BSCL2-related; congenital lipoatrophic diabetes; total lipodystrophy and acromegaloid gigantism; CGL2; 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	BSCL3; CGL3; Berardinelli-Seip congenital lipodyst.. [+] BSCL3; CGL3; 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	Berardinelli-Seip congenital lipodystrophy type 4 .. [+] Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; BSCL4; CGL4; GCL4; generalized congenital lipodystrophy type 4; Brunzell syndrome AGPAT2-related; congenital generalised lipodystrophy type 4; 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 granular cell tumor		n_a
congenital heart block		An atrioventricular block characterized by the pre..[+] An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. [-]	1 articles
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	CDK13-Related CHDFIDD; CDK13-Related Disorder; CHD.. [+] CDK13-Related CHDFIDD; CDK13-Related Disorder; CHDFIDD; [-]	A syndrome characterized by congenital heart defec..[+] A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. [-]
congenital heart defects, hamartomas of tongue, and polysyndactyly	heart defect-tongue hamartoma-polysyndactyly syndr.. [+] heart defect-tongue hamartoma-polysyndactyly syndrome; Ostravik-Lindemann-Solberg syndrome; CHDTHP; [-]	A syndrome characterized by congenital heart defec..[+] A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. [-]
congenital heart disease	Congenital Heart Defects; Heart Malformation; hear.. [+] Congenital Heart Defects; Heart Malformation; heart defect; congenital heart defect; Heart-congenital defect; Congenital anomaly of heart; [-]	n_a	40 articles	77 matches
congenital hemolytic anemia	hereditary hemolytic anaemia; congenital hemolytic.. [+] hereditary hemolytic anaemia; congenital hemolytic anaemia; hereditary hemolytic anemia; [-]	n_a
congenital hereditary endothelial dystrophy of cornea	CHED;	A corneal endothelial dystrophy that has_material_..[+] A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. [-]	1 articles
congenital hypogammaglobulinemia	Congenital hypogammaglobulinaemia; Congenital hypo.. [+] Congenital hypogammaglobulinaemia; Congenital hypogammaglobulinemia (finding); Congenital hypogammaglobulinemia; [-]	n_a
congenital hypoplastic anemia	congenital aplastic anemia; Constitutional aplasti.. [+] congenital aplastic anemia; Constitutional aplastic anaemia; congenital aplastic anaemia; congenital hypoplastic anaemia; [-]	An aplastic anemia that is characterized by insuff..[+] An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. [-]	17 articles
congenital hypothyroidism	cretinism;	A hypothyroidism that is present at birth.	1 articles	3 matches
congenital hypotrichosis with juvenile macular dystrophy	hypotrichosis with cone-rod dystrophy; Hjmd;	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. [-]
congenital intrinsic factor deficiency	hereditary intrinsic factor deficiency;	A vitamin B12 deficiency that is characterized by ..[+] A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [-]
congenital kyphosis		A kyphosis that results_in abnormal formation loca..[+] A kyphosis that results_in abnormal formation located_in body of vertebra. [-]
congenital lactase deficiency	CLD; congenital alactasia; congenital lactose into.. [+] CLD; congenital alactasia; congenital lactose intolerance; disaccharide intolerance II; congenital lactose malabsorption; congenital alactasia syndrome; [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. [-]
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. [-]
congenital limbs-face contractures-hypotonia-developmental delay syndrome	CLIFAHDD syndrome; congenital contractures of the .. [+] CLIFAHDD syndrome; congenital contractures of the limbs and face, hypotonia, and developmental delay; [-]	A syndrome that is characterized by congenital con..[+] A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. [-]
congenital malabsorptive diarrhea 4	congenital malabsorptive diarrhea due to paucity o.. [+] congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; enteric anendocrinosis; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea 4; [-]	A congenital diarrhea characterized by chronic unr..[+] A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. [-]
congenital megabladder	MGBL;	A bladder disease characterized by a massively dil..[+] A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. [-]
congenital merosin-deficient muscular dystrophy 1A	MDC1A; CMD1A; Merosin-negative congenital muscular.. [+] MDC1A; CMD1A; Merosin-negative congenital muscular dystrophy; congenital muscular dystrophy due to laminin alpha2 deficiency; [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. [-]
congenital mesoblastic nephroma		A kidney cancer that is characterized by the prese..[+] A kidney cancer that is characterized by the presence of fibroblastic cells. [-]
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. [-]
congenital muscular dystrophy		A muscular dystrophy that is characterized by dimi..[+] A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. [-]	1 articles
congenital muscular dystrophy 1B	congenital muscular dystrophy type 1B; MDC1B; CMD1.. [+] congenital muscular dystrophy type 1B; MDC1B; CMD1B; [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. [-]
congenital muscular dystrophy due to LMNA mutation	congenital muscular dystrophy LMNA-related; L-CMD;.. [+] congenital muscular dystrophy LMNA-related; L-CMD; LMNA-related congenital muscular dystrophy; [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
congenital muscular dystrophy due to integrin alpha-7 deficiency	congenital muscular dystrophy with integrin alpha-.. [+] congenital muscular dystrophy with integrin alpha-7 deficiency; congenital myopathy due to integrin alpha-7 deficiency ; congenital muscular dystrophy with ITGA7 deficiency; [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. [-]
congenital muscular dystrophy with cataracts and intellectual disability		A congenital muscular dystrophy characterized by o..[+] A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. [-]

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