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Disease	Synonyms	Description	Articles	Phenotypes
congenital myopathy 9B		A congenital myopathy that is neonatal hypotonia f..[+] A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. [-]
congenital nervous system abnormality	congenital neurologic anomaly;	n_a	25 articles	41 matches
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 2	CHNG2; congenital hypothyroidism due to thyroid dy.. [+] CHNG2; congenital hypothyroidism due to thyroid dysgenesis or hypoplasia; [-]	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 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 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 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 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 hypothyroidism 7	central hypothyroidism due to TRH receptor deficie.. [+] central hypothyroidism due to TRH receptor deficiency; CHNG7; resistance to thyrotropin-releasing hormone syndrome; TRH resistance syndrome; [-]	A congenital hypothyroidism characterized by norma..[+] A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. [-]
congenital nongoitrous hypothyroidism 8	CHNG8;	A congenital hypothyroidism characterized by relat..[+] A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. [-]
congenital nongoitrous hypothyroidism 9	CHNG9;	A congenital hypothyroidism characterized by a sma..[+] A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. [-]
congenital nonspherocytic hemolytic anemia	hereditary nonspherocytic hemolytic anemia; HNSHA;.. [+] hereditary nonspherocytic hemolytic anemia; HNSHA; congenital nonspherocytic hemolytic anaemia; hereditary nonspherocytic hemolytic anaemia; [-]	n_a
congenital nystagmus		A pathologic nystagmus, present at birth, characte..[+] A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. [-]
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 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 5	X-linked congenital nystagmus 5; NYS5;	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. [-]
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. [-]
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 ptosis		A ptosis characterized by eyelid drop present at b..[+] A ptosis characterized by eyelid drop present at birth. [-]
congenital secretory chloride diarrhea 1	congenital chloride diarrhea finnish type; congeni.. [+] congenital chloride diarrhea finnish type; congenital chloridorrhea; congenital chloride diarrhoea finnish type; congenital secretory chloride diarrhoea 1; [-]	A secretory diarrhea that has_material_basis_in mu..[+] A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. [-]	3 articles
congenital secretory sodium diarrhea 3	congenital secretory sodium diarrhea 3 syndromic; .. [+] congenital secretory sodium diarrhea 3 syndromic; congenital secretory sodium diarrhea 3 with or without other congenital anomalies; congenital secretory sodium diarrhoea 3; congenital secretory sodium diarrhoea 3 with or without other congenital anomalies; congenital secretory sodium diarrhoea 3 syndromic; [-]	A secretory diarrhea that has_material_basis_in ho..[+] A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. [-]
congenital secretory sodium diarrhea 8	DIAR8;	A secretory diarrhea that has_material_basis_in ho..[+] A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. [-]
congenital stationary night blindness	congenital essential nyctalopia;	A hereditary night blindness that is characterized..[+] A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. [-]
congenital stationary night blindness 1A	congenital stationary night blindness 1A X-linked;.. [+] congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; myopia-night blindness; NBMI; complete CSNB X-linked; hemeralopia-myopia; [-]	A congenital stationary night blindness that has_m..[+] A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. [-]
congenital stationary night blindness 1B	autosomal recessive complete congenital stationary.. [+] autosomal recessive complete congenital stationary night blindness; congenital stationary night blindness 1B autosomal recessive; CSNB1B; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. [-]
congenital stationary night blindness 1C	congenital stationary night blindness 1C autosomal.. [+] congenital stationary night blindness 1C autosomal recessive; CSNB1C; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. [-]
congenital stationary night blindness 1D	CSNB1D; congenital stationary night blindness 1D a.. [+] CSNB1D; congenital stationary night blindness 1D autosomal recessive; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. [-]
congenital stationary night blindness 1E	congenital stationary night blindness 1E autosomal.. [+] congenital stationary night blindness 1E autosomal recessive; CSNB1E; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. [-]
congenital stationary night blindness 1F	congenital stationary night blindness 1F autosomal.. [+] congenital stationary night blindness 1F autosomal recessive; CSNB1F; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. [-]
congenital stationary night blindness 1G	CSNB1G; congenital stationary night blindness type.. [+] CSNB1G; congenital stationary night blindness type 1G; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. [-]
congenital stationary night blindness 1H	congenital stationary night blindness type 1H; CSN.. [+] congenital stationary night blindness type 1H; CSNB1H; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. [-]
congenital stationary night blindness 2A	congenital stationary night blindness 2A X-linked;.. [+] congenital stationary night blindness 2A X-linked; [-]	A congenital stationary night blindness that has_m..[+] A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. [-]
congenital stationary night blindness autosomal dominant 1	CSNBAD1; rhodopsin-related congenital stationary n.. [+] CSNBAD1; rhodopsin-related congenital stationary night blindness; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. [-]
congenital stationary night blindness autosomal dominant 2	CSNBAD2; Rambusch type congenital stationary night.. [+] CSNBAD2; Rambusch type congenital stationary night blindness; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. [-]
congenital stationary night blindness autosomal dominant 3	CSNBAD3; Nougaret type congenital stationary night.. [+] CSNBAD3; Nougaret type congenital stationary night blindness; [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. [-]
congenital stromal corneal dystrophy	congenital hereditary stromal dystrophy; CSCD;	A stromal dystrophy that is characterized by the p..[+] A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. [-]
congenital structural myopathy		A myopathy that is characterized by hypotonia, mus..[+] A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. [-]
congenital sucrase-isomaltase deficiency	congenital sucrase-isomaltose malabsorption; conge.. [+] congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; disaccharide intolerance; SI deficiency; CSID; [-]	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 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. [-]
congenital symmetric circumferential skin creases 1	CSCSC1;	A multiple benign circumferential skin creases on ..[+] A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. [-]
congenital symmetric circumferential skin creases 2	CSCSC2;	A multiple benign circumferential skin creases on ..[+] A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. [-]
congenital syphilis		A syphilis that results_in a multisystem infection..[+] A syphilis that results_in a multisystem infection in the fetus via the placenta. [-]
congenital toxoplasmosis	Congenital toxoplasmosis; Congenital toxoplasmosis.. [+] Congenital toxoplasmosis; Congenital toxoplasmosis (disorder); Toxoplasmosis - congen.; [-]	A toxoplasmosis that involves a reactivated infect..[+] A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. [-]
congenital vertical talus	congenital convex foot; congenital convex pes valg.. [+] congenital convex foot; congenital convex pes valgus; CVT; rocker-bottom foot deformity; congenital rocker-bottom foot; [-]	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. [-]
congestive heart failure	CHF; Weak heart; Cardiac Failure Congestive; Conge.. [+] CHF; Weak heart; Cardiac Failure Congestive; Congestive heart disease; [-]	A heart disease that is characterized by any struc..[+] A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. [-]	6 articles
conidiobolomycosis		An subcutaneous mycosis that is a chronic inflamma..[+] An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. [-]
conjugate gaze palsy	Palsy of conjugate gaze;	n_a
conjunctival cancer	malignant Conjunctival tumor; malignant neoplasm o.. [+] malignant Conjunctival tumor; malignant neoplasm of conjunctiva; malignant tumor of conjunctiva (disorder); malignant neoplasm of conjunctiva (primary); neoplasm of conjunctiva; Conjunctival tumor; malignant tumor of conjunctiva; [-]	n_a
conjunctival concretion		n_a

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