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Disease	Synonyms	Description	Articles
congenital bile acid synthesis defect 2	CBAS2; cholestasis with delta(4)-3-oxosteroid 5-be.. [+] CBAS2; cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; [-]	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 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 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 central hypoventilation syndrome	CCHS; central congenital hypoventilation syndrome;.. [+] CCHS; central congenital hypoventilation syndrome; Ondine curse; Ondine syndrome; congenital central alveolar hypoventilation syndrome; [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. [-]
congenital chylothorax		A pleural disease characterized by the accumulatio..[+] A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. [-]
congenital contractural arachnodactyly	arachnodactyly, contractural Beals type; CCA; cont.. [+] arachnodactyly, contractural Beals type; CCA; contractures, multiple with arachnodactyly; distal arthrogryposis type 9; Beals-Hecht syndrome; Beals syndrome; ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. [-]	1 articles
congenital diaphragmatic hernia	Diaphragmatic Hernia;	A diaphragm disease characterized by the lack of d..[+] A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. [-]	1 articles
congenital diarrhea		A diarrhea that is characterized by frequent loose..[+] A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. [-]
congenital diarrhea 5 with tufting enteropathy	congenital familial intractable diarrhea with epit.. [+] congenital familial intractable diarrhea with epithelial or epithelium abnormalities; DIAR5; tufting enteropathy; congenital diarrhoea 5 with tufting enteropathy; congenital familial intractable diarrhoea with epithelial or epithelium abnormalities; congenital tufting enteropathy; [-]	A congenital diarrhea characterized by intractable..[+] A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. [-]
congenital diarrhea 6	chronic diarrhea due to guanylate cyclase 2C overa.. [+] chronic diarrhea due to guanylate cyclase 2C overactivity; congenital diarrhoea 6; chronic diarrhoea due to guanylate cyclase 2C overactivity; [-]	A congenital diarrhea characterized by mild, early..[+] A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. [-]
congenital diarrhea 7 with exudative enteropathy	congenital chronic diarrhea with exudative enterop.. [+] congenital chronic diarrhea with exudative enteropathy; congenital chronic diarrhea with protein-losing enteropathy; congenital chronic diarrhoea with exudative enteropathy; congenital chronic diarrhoea with protein-losing enteropathy; congenital diarrhoea 7 with exudative enteropathy; [-]	A congenital diarrhea characterized by watery diar..[+] A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. [-]
congenital disorder of glycosylation	carbohydrate-deficient glycoprotein syndrome;	A carbohydrate metabolic disorder that involves de..[+] A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. [-]
congenital disorder of glycosylation Ia	congenital disorder of glycosylation 1a; PMM2-cong.. [+] congenital disorder of glycosylation 1a; PMM2-congenital disorder of glycosylation; [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. [-]
congenital disorder of glycosylation Ib	congenital disorder of glycosylation 1b;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. [-]
congenital disorder of glycosylation Icc	congenital disorder of glycosylation type Icc;	A congenital disorder of glycosylation type I char..[+] A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. [-]
congenital disorder of glycosylation Id	congenital disorder of glycosylation 1d;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. [-]
congenital disorder of glycosylation Ie	congenital disorder of glycosylation 1e;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. [-]
congenital disorder of glycosylation If	congenital disorder of glycosylation 1f;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. [-]
congenital disorder of glycosylation Ig	ALG12-congenital disorder of glycosylation; congen.. [+] ALG12-congenital disorder of glycosylation; congenital disorder of glycosylation 1g; [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. [-]
congenital disorder of glycosylation Ih	congenital disorder of glycosylation 1h;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. [-]
congenital disorder of glycosylation Ii	congenital disorder of glycosylation 1i;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. [-]
congenital disorder of glycosylation Ij	Congenital disorder of glycosylation 1j;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. [-]
congenital disorder of glycosylation Ik	congenital disorder of glycosylation 1k;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. [-]
congenital disorder of glycosylation Il	congenital disorder of glycosylation 1l;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. [-]
congenital disorder of glycosylation Im	congenital disorder of glycosylation 1m; dolichol .. [+] congenital disorder of glycosylation 1m; dolichol kinase deficiency; DOLK-congenital disorder of glycosylation; [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. [-]
congenital disorder of glycosylation In	congenital disorder of glycosylation 1n;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. [-]
congenital disorder of glycosylation Ip	congenital disorder of glycosylation 1p;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. [-]
congenital disorder of glycosylation Iq	congenital disorder of glycosylation 1q;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. [-]
congenital disorder of glycosylation Ir	congenital disorder of glycosylation 1r;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. [-]
congenital disorder of glycosylation It	congenital disorder of glycosylation 1t;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. [-]
congenital disorder of glycosylation Iu	congenital disorder of glycosylation 1u;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. [-]
congenital disorder of glycosylation Iw	congenital disorder of glycosylation 1w;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. [-]
congenital disorder of glycosylation Ix	congenital disorder of glycosylation 1x;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. [-]
congenital disorder of glycosylation Iy	congenital disorder of glycosylation 1y;	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. [-]
congenital disorder of glycosylation type I	ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG2-CDG (C.. [+] ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); DPAGT1-CDG (CDG-1j); DPM1-CDG (CDG-1e); DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); MPDU1-CDG (CDG-1f); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q); ALG12-CDG (CDG-1g); DOLK-CDG (CDG-1m); MPI-CDG (CDG-1b); [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
congenital disorder of glycosylation type II	B4GALT1-CDG (CDG-2d); MOGS-CDG (CDG-2b); MGAT2-CDG.. [+] B4GALT1-CDG (CDG-2d); MOGS-CDG (CDG-2b); MGAT2-CDG (CDG-2a); [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. [-]
congenital disorder of glycosylation type IIa	Alkuraya syndrome; carbohydrate-deficient glycopro.. [+] Alkuraya syndrome; carbohydrate-deficient glycoprotein syndrome, type II; CDG IIa; CDG2A; CDGIIa; CDGS2; congenital disorder of glycosylation, type IIa; mental retardation, growth retardation, prominent columella, and open mouth; [-]	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 MGAT2 gene on chromosome 14q21.3. [-]
congenital disorder of glycosylation type IIb	CDG IIb; CDG2B; glucosidase I deficiency; CDGIIb;	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 MOGS gene on chromosome 2p13.1. [-]
congenital disorder of glycosylation type IIc	CDG IIc; CDG2C; CDGIIc; Rambam-Hasharon syndrome;	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 SLC35C1 gene on chromosome 11p11.2. [-]
congenital disorder of glycosylation type IId	CDG2D; CDG IId; CDGIId;	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 B4GALT1 gene on chromosome 9p21.1. [-]
congenital disorder of glycosylation type IIe	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIe; CDG2E; CDGIIde; COG7-CDG; CDG IIe; CDG syndrome type IIe; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. [-]
congenital disorder of glycosylation type IIf	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIf; CDG IIf; CDG2F; SLC35A1-CDG; CDGIIdf; CMP-sialic acid transporter deficiency; [-]	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 SLC35A1 gene on chromosome 6q15. [-]
congenital disorder of glycosylation type IIg	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIg; CDG2G; CDGII/COG1 cerebrocostomandibular-like syndrome; CDGIIg; CDG IIg; Congenital disorder of glycosylation type IIg; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. [-]
congenital disorder of glycosylation type IIh	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIh; CDG2H; CDGIIdh; Congenital disorder of glycosylation type 2h; CDG IIh; COG8-CDG; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. [-]
congenital disorder of glycosylation type IIi	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIi; CDG IIi; CDG syndrome type IIi; CDG2I; CDGIIdi; COG5-CDG; Congenital disorder of glycosylation type 2i; [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. [-]
congenital disorder of glycosylation type IIj	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIj; CDG IIj; CDG syndrome type IIj; CDG2J; CDGIIdj; COG4-CDG; Congenital disorder of glycosylation type 2j; [-]	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 COG4 gene on chromosome 16q22.1. [-]
congenital disorder of glycosylation type IIk	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type IIk; CDG IIk; CDG syndrome type IIk; CDG2K; CDGIIdk; Congenital disorder of glycosylation type 2k; TMEM165-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 TMEM165 gene on chromosome 4q12. [-]
congenital disorder of glycosylation type IIl	CDG IIl; CDG syndrome type IIL; CDG2L; CDGIIdl; CO.. [+] CDG IIl; CDG syndrome type IIL; CDG2L; CDGIIdl; COG6-CGD; Congenital disorder of glycosylation type 2l; [-]	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 COG6 gene on chromosome 13q14.11. [-]

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