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Disease	Synonyms	Description	Articles
combined oxidative phosphorylation deficiency 24	COXPD24	A combined oxidative phosphorylation deficiency ty..[+] A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. [-]
combined oxidative phosphorylation deficiency 3	COXPD3; concentric cardiomyopathy, hypotonia, and .. [+] COXPD3; concentric cardiomyopathy, hypotonia, and lactic acidosis; encephalomyopathy, respiratory failure, and lactic acidosis; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3; Fatal mitochondrial disease due to COXPD3 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. [-]
combined oxidative phosphorylation deficiency 7	COXPD7; severe C12ORF65-related combined oxidative.. [+] COXPD7; severe C12ORF65-related combined oxidative phosphorylation defect; severe C12ORF65-related COXPD [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. [-]
combined oxidative phosphorylation deficiency 31	COXPD31; lethal left ventricular non-compaction-se.. [+] COXPD31; lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. [-]
combined oxidative phosphorylation deficiency 27	COXPD27	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. [-]
combined oxidative phosphorylation deficiency 26	COXPD26	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. [-]
combined oxidative phosphorylation deficiency 15	COXPD15	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. [-]
combined oxidative phosphorylation deficiency 32	COXPD32	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. [-]
combined oxidative phosphorylation deficiency 12	COXPD12; leukoencephalopathy with thalamus and bra.. [+] COXPD12; leukoencephalopathy with thalamus and brainstem involvement and high lactate; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; LTBL [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. [-]
combined oxidative phosphorylation deficiency 4	COXPD4	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. [-]
combined oxidative phosphorylation deficiency 33	COXPD33	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. [-]
combined oxidative phosphorylation deficiency 17	COXPD17	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. [-]
combined oxidative phosphorylation deficiency 34	COXPD34; syndromic sensorineural deafness due to c.. [+] COXPD34; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; syndromic sensorineural deafness due to COXPD; syndromic sensorineural hearing loss due to COXPD [-]	A combined oxidative phosphorylation deficiency ty..[+] A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. [-]
combined oxidative phosphorylation deficiency 22	COXPD22	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. [-]
combined oxidative phosphorylation deficiency 23	COXPD23	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. [-]
combined oxidative phosphorylation deficiency 29	COXPD29	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. [-]
combined oxidative phosphorylation deficiency 6	COXPD6; Mitochondrial encephalomyopathy due to com.. [+] COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; Mitochondrial encephalomyopathy due to COXPD6; severe X-linked mitochondrial encephalomyopathy [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
Currarino syndrome	Currarino triad	A syndrome characterized by anorectal malformation..[+] A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. [-]
Charcot-Marie-Tooth disease type 2A2B	CMT2A2B; Charcot-Marie-Tooth disease, axonal, type.. [+] CMT2A2B; Charcot-Marie-Tooth disease, axonal, type 2A2B; AR-CMT2, Ouvrier type; SEOAN due to MFN2 deficiency; severe early-onset axonal neuropathy due to MFN2 deficiency; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2DD	Charcot-Marie-Tooth neuropathy, type 2DD; CMT2DD; .. [+] CMT2DD; Charcot-Marie-Tooth neuropathy, type 2DD; Charcot-Marie-Tooth disease, axonal, type 2DD; ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; ATP1A1-related CMT2 [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. [-]
Charcot-Marie-Tooth disease type 2EE	CMT2EE; Charcot-Marie-Tooth disease, axonal, type .. [+] CMT2EE; Charcot-Marie-Tooth disease, axonal, type 2EE [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. [-]
Charcot-Marie-Tooth disease type 1G	CMT1G; PMP2-related Charcot-Marie-Tooth disease ty.. [+] CMT1G; PMP2-related Charcot-Marie-Tooth disease type 1; PMP2-related Charcot-Marie-Tooth neuropathy type 1; PMP2-related hereditary motor and sensory neuropathy type 1; PMP2-related CMT1 [-]	A Charcot-Marie-Tooth disease type 1 characterized..[+] A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. [-]
congenital vertical talus	CVT; congenital rocker-bottom foot; congenital con.. [+] congenital rocker-bottom foot; CVT; congenital convex pes valgus; congenital convex foot; rocker-bottom foot deformity [-]	A connective tissue disease characterized by dislo..[+] A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. [-]
C syndrome	Opitz C trigonocephaly; Opitz trigonocephaly C syn.. [+] Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opitz trigonocephaly syndrome; OTCS; trigonocephaly C syndrome [-]	A syndrome characterized by trigonocephaly, psycho..[+] A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. [-]
carboxypeptidase N deficiency	anaphylotoxin inactivator deficiency; deficiency o.. [+] anaphylotoxin inactivator deficiency; deficiency of carboxypeptidase B [-]	A plasma protein metabolism disease characterized ..[+] A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. [-]
carnitine-acylcarnitine translocase deficiency	CACTD; CACT deficiency	A lipid metabolism disorder characterized by impai..[+] A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. [-]
COACH syndrome	cerebellar vermis hypo/aplasia, oligophrenia, cong.. [+] cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Gentile syndrome; JS-H; Joubert syndrome with congenital hepatic fibrosis; Joubert syndrome with hepatic defect [-]	A syndrome characterized by autosomal recessive in..[+] A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). [-]
Cohen syndrome	COH1; Hypotonia, obesity, and prominent incisors; .. [+] COH1; Hypotonia, obesity, and prominent incisors; Pepper syndrome [-]	A syndrome characterized by facial dysmorphism, mi..[+] A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. [-]
congenital heart defects, hamartomas of tongue, and polysyndactyly	CHDTHP; heart defect-tongue hamartoma-polysyndacty.. [+] CHDTHP; heart defect-tongue hamartoma-polysyndactyly syndrome; Ostravik-Lindemann-Solberg syndrome [-]	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 contractural arachnodactyly	CCA; contractures, multiple with arachnodactyly; a.. [+] contractures, multiple with arachnodactyly; CCA; arachnodactyly, contractural Beals type; 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
combined D-2- and L-2-hydroxyglutaric aciduria	combined D-2-hydroxyglutaric acidemia and L-2-hydr.. [+] combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia; combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria; combined D,L-2-hydroxyglutaric aciduria; D,L-2-hydroxyglutaric acidemia; D,L-2-hydroxyglutaric aciduria; D,L-2-HGA [-]	A 2-hydroxyglutaric aciduria characterized by neon..[+] A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. [-]
corneal dystrophy-perceptive deafness syndrome	corneal dystrophy with progressive deafness; corne.. [+] corneal dystrophy with progressive deafness; corneal endothelial dystrophy and perceptive deafness; corneal dystrophy and perceptive deafness; CDPD1; CDPD; Harboyan syndrome [-]	A syndrome characterized by congenital corneal end..[+] A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. [-]
congenital sucrase-isomaltase deficiency	congenital sucrose intolerance; CSID; congenital s.. [+] CSID; congenital sucrose intolerance; congenital sucrase-isomaltose malabsorption; disaccharide intolerance; SI deficiency [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. [-]
congenital lactase deficiency	congenital alactasia syndrome; congenital lactose .. [+] congenital alactasia syndrome; congenital lactose malabsorption; congenital lactose intolerance; congenital alactasia; CLD; disaccharide intolerance II [-]	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. [-]
cleft palate, cardiac defects, and intellectual disabillity	cardiac malformation, cleft lip/palate, microcepha.. [+] cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies; cleft palate, cardiac defects, and mental retardation; CPCMR [-]	A syndrome characterized by a combination of conge..[+] A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. [-]
chromosome 2q37 deletion syndrome	2q37 microdeletion syndrome; Albright hereditary o.. [+] 2q37 microdeletion syndrome; Albright hereditary osteodystrophy type 3; Albright hereditary osteodystrophy-like syndrome; BDMR; Del(2)(q37); deletion 2q37; Brachydactyly-intellectual disability syndrome; monosomy 2q37qter; Albright's hereditary osteodystrophy-like syndrome [-]	A chromosomal deletion syndrome characterized by v..[+] A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. [-]
cryptophthalmia	cryptophthalmos	A physical disorder characterized by ocular dyspla..[+] A physical disorder characterized by ocular dysplasia with eyelid malformation. [-]
complete cryptophthalmia		An isolated cryptophthalmia characterized by failu..[+] An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. [-]
congenital symblepharon		An isolated cryptophthalmia characterized by fusio..[+] An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia. [-]
cerebellar ataxia type 42	SCA42	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. [-]
cerebellar ataxia type 47	SCA47	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. [-]
cerebellar ataxia type 41	SCA41	An autosomal dominant cerebellar ataxia that has_m..[+] An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. [-]
cerebellar ataxia type 43	SCA43	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. [-]
cerebellar ataxia type 48	SCA48	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. [-]
cerebellar ataxia type 9	SCA9	An autosomal dominant cerebellar ataxia characteri..[+] An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. [-]
congenital nystagmus 1	congenital motor nystagmus 1; NYS1; X-linked infan.. [+] congenital motor nystagmus 1; NYS1; X-linked infantile nystagmus 1 [-]	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. [-]
congenital nystagmus 7	autosomal dominant congenital nystagmus 7; NYS7	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. [-]
congenital nystagmus 2	congenital motor nystagmus 2; NYS2; autosomal domi.. [+] congenital motor nystagmus 2; NYS2; autosomal dominant congenital nystagmus 2 [-]	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. [-]
congenital nystagmus 3	autosomal dominant congenital nystagmus 3; NYS3	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. [-]
congenital nystagmus 6	NYS6; X-linked congenital nystagmus 6	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. [-]

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