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Disease	Synonyms	Description	Articles
Coffin-Siris syndrome 2	CSS2; autosomal dominant mental retardation 14; MR.. [+] CSS2; autosomal dominant mental retardation 14; MRD14 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. [-]
Coffin-Siris syndrome 3	CSS3; autosomal dominant mental retardation 15; MR.. [+] CSS3; autosomal dominant mental retardation 15; MRD15 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. [-]
Coffin-Siris syndrome 4	CSS4; autosomal dominant mental retardation 16; MR.. [+] CSS4; autosomal dominant mental retardation 16; MRD16 [-]	A Coffin-Siris syndrome that has_material_basis_in..[+] A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. [-]
Coffin-Siris syndrome 9	autosomal dominant mental retardation 27; MRD27; a.. [+] autosomal dominant mental retardation 27; MRD27; autosomal dominant non-syndromic intellectual disability 27 [-]	An Coffin-Siris syndrome characterized by mild int..[+] An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. [-]
congenital nongoitrous hypothryoidism 4	CHNG4; isolated thyrotropin deficiency	A congenital hypothyroidism characterized by a per..[+] A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. [-]
congenital nongoitrous hypothryoidism 2	congenital hypothyroidism due to thyroid dysgenesi.. [+] congenital hypothyroidism due to thyroid dysgenesis or hypoplasia; CHNG2 [-]	A congenital hypothyroidism that has_material_basi..[+] A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. [-]
congenital nongoitrous hypothyroidism 5	CHNG5	A congenital hypothyroidism that has_material_basi..[+] A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. [-]
congenital nongoitrous hypothryoidism 1	CHNG1; TSH resistance	A congenital hypothyroidism that has_material_basi..[+] A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. [-]
congenital nongoitrous hypothryoidism 3	CHNG3	A congenital hypothyroidism characterized by autos..[+] A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1. [-]
congenital nongoitrous hypothryoidism 6	CHNG6	A congenital hypothyroidism that has_material_basi..[+] A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. [-]
congenital disorder of glycosylation type IIa	congenital disorder of glycosylation, type IIa; CD.. [+] congenital disorder of glycosylation, type IIa; CDGS2; CDGIIa; CDG2A; CDG IIa; carbohydrate-deficient glycoprotein syndrome, type II; Alkuraya syndrome; 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	CDGIIb; CDG2B; CDG IIb; glucosidase I 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 MOGS gene on chromosome 2p13.1. [-]
congenital disorder of glycosylation type IIc	CDGIIc; CDG2C; CDG IIc; 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	CDGIId; CDG IId; CDG2D	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	CDGIIde; COG7-CDG; CDG IIe; CDG syndrome type IIe; .. [+] CDG syndrome type IIe; CDG IIe; COG7-CDG; CDGIIde; CDG2E; Carbohydrate deficient glycoprotein 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	CDGIIdf; CMP-sialic acid transporter deficiency; C.. [+] CMP-sialic acid transporter deficiency; CDGIIdf; CDG2F; CDG IIf; Carbohydrate deficient glycoprotein syndrome type IIf; SLC35A1-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 SLC35A1 gene on chromosome 6q15. [-]
congenital disorder of glycosylation type IIg	Congenital disorder of glycosylation type IIg; CDG.. [+] Congenital disorder of glycosylation type IIg; CDG IIg; CDGIIg; CDGII/COG1 cerebrocostomandibular-like syndrome; CDG2G; Carbohydrate deficient glycoprotein syndrome 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	CDG IIh; COG8-CDG; Congenital disorder of glycosyl.. [+] COG8-CDG; CDG IIh; Congenital disorder of glycosylation type 2h; CDGIIdh; CDG2H; Carbohydrate deficient glycoprotein syndrome type IIh [-]	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	Congenital disorder of glycosylation type 2i; COG5.. [+] Congenital disorder of glycosylation type 2i; COG5-CDG; CDGIIdi; CDG2I; CDG syndrome type IIi; CDG IIi; Carbohydrate deficient glycoprotein syndrome type IIi [-]	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	Congenital disorder of glycosylation type 2j; COG4.. [+] Congenital disorder of glycosylation type 2j; COG4-CDG; CDGIIdj; CDG2J; CDG syndrome type IIj; CDG IIj; Carbohydrate deficient glycoprotein syndrome type IIj [-]	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	Congenital disorder of glycosylation type 2k; CDGI.. [+] Congenital disorder of glycosylation type 2k; CDGIIdk; CDG2K; CDG syndrome type IIk; CDG IIk; Carbohydrate deficient glycoprotein syndrome type IIk; 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	Congenital disorder of glycosylation type 2l; COG6.. [+] Congenital disorder of glycosylation type 2l; COG6-CGD; CDGIIdl; CDG2L; CDG syndrome type IIL; CDG IIl [-]	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. [-]
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	Congenital disorder of glycosylation type 2n; CDGI.. [+] Congenital disorder of glycosylation type 2n; CDGIIdn; CDG2N; CDG syndrome type IIn; CDG IIn; Carbohydrate deficient glycoprotein syndrome type IIn; 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	Congenital disorder of glycosylation type 2o; CDGI.. [+] Congenital disorder of glycosylation type 2o; CDGIIdo; CDG2O; CDG syndrome type IIo; CDG IIo; CCDC115-CDG; Carbohydrate deficient glycoprotein syndrome type IIo [-]	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	Congenital disorder of glycosylation type 2p; CDGI.. [+] Congenital disorder of glycosylation type 2p; CDGIIdp; CDG2P; CDG syndrome type IIp; CDG IIp; Carbohydrate deficient glycoprotein syndrome type IIp; 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	COG2-related congenital disorder of glycosylation; .. [+] COG2-related congenital disorder of glycosylation; COG2-CDG; CDGIIdq; CDG2Q; CDG IIq [-]	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. [-]
craniolenticulosutural dysplasia	cranio-lenticulo-sutural dysplasia, CLSD; Boyadjie.. [+] cranio-lenticulo-sutural dysplasia, CLSD; Boyadjiev-Jabs Syndrome [-]	A syndrome in neonates that is characterized by fa..[+] A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. [-]
childhood hepatocellular carcinoma	pediatric hepatocellular carcinoma	A hepatocellular carcinoma that occurs in children..[+] A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. [-]
childhood acute myeloid leukemia	childhood acute myeloid leukaemia; paediatric acut.. [+] childhood acute myeloid leukaemia; paediatric acute myeloid leukaemia; pediatric acute myeloid leukemia [-]	A childhood leukemia that is characterized by the ..[+] A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. [-]
celery allergy		A vegetable allergy triggered by celery (Apium gra..[+] A vegetable allergy triggered by celery (Apium graveolens). [-]
cerebellar hypoplasia		A cerebellar disease that is characterized by a ce..[+] A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. [-]	1 articles
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay		A syndrome with a cerebellar malformation as a maj..[+] A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. [-]	2 articles
classic citrullinemia		A citrullinemia that has_material_basis_in homozyg..[+] A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. [-]
CSF1R-related brain malformation and osteopetrosis	osteoporosis and infantile neuroaxonal dystrophy	A neuroaxonal dystrophy that has_material_basis_in..[+] A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. [-]
cataract 47	CTRCT47	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. [-]
cataract 48	CTRCT48	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. [-]
combined oxidative phosphorylation deficiency 44	COXPD44	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. [-]
combined oxidative phosphorylation deficiency 52	COXPD52	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. [-]
combined oxidative phosphorylation deficiency 53	COXPD53	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. [-]
combined oxidative phosphorylation deficiency 54	COXPD54	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. [-]
combined oxidative phosphorylation deficiency 55	COXPD55	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. [-]
combined oxidative phosphorylation deficiency 56	COXPD56	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. [-]
combined oxidative phosphorylation deficiency 57	COXPD57	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. [-]
carpal tunnel syndrome 1	CTS1	A carpal tunnel syndrome that has_material_basis_i..[+] A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. [-]
carpal tunnel syndrome 2	CTS2	A carpal tunnel syndrome that has_material_basis_i..[+] A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. [-]
chromosome 1p36.33 duplication syndrome	CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GEN.. [+] CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. [-]
childhood-onset neurodegeneration with brain atrophy	CONDBA; childhood-onset motor and cognitive regres.. [+] CONDBA; childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [-]	A neurodegenerative disease characterized by loss ..[+] A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. [-]
classic dopamine transporter deficiency syndrome	classic DTDS; infantile parkinsonism-dystonia 1; P.. [+] classic DTDS; infantile parkinsonism-dystonia 1; PKDYS1 [-]	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. [-]
chromosome 16p11.2 deletion syndrome, 593-kb	Proximal 16p11.2 microdeletion syndrome	A chromosomal deletion syndrome characterized by l..[+] A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). [-]

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