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Disease	Synonyms	Description
corneal endothelial dystrophy	endothelial dystrophy	n_a
congenital stromal corneal dystrophy	CSCD; congenital hereditary stromal dystrophy	n_a
chromosome 2q31.1 duplication syndrome		n_a
chromosome 3q29 microduplication syndrome	3q29 microduplication; trisomy 3q29	n_a
chromosome 5p13 duplication syndrome	5p13 microduplication syndrome; trisomy 5p13	n_a
chromosome Xp11.23-p11.22 duplication syndrome	microduplication Xp11.22-p11.23 syndrome; trisomy .. [+] microduplication Xp11.22-p11.23 syndrome; trisomy Xp11.22-p11.23 [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. [-]
childhood onset epileptic encephalopathy	EEOC	An idiopathic generalized epilepsy characterized b..[+] An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. [-]
chicken egg allergy	Gallus gallus egg allergy	An egg allergy triggered by Gallus gallus eggs.
cherry allergy	Prunus avium fruit allergy	A fruit allergy triggered by Prunus avium plant fr..[+] A fruit allergy triggered by Prunus avium plant fruit food product. [-]
carp allergy	Cyprinus carpio fish allergy	A fish allergy triggered by Cyprinus carpio.
cow milk allergy	Bos taurus milk allergy	A milk allergy triggered by Bos taurus milk.
crustacean allergy		A shellfish allergy triggered by Crustacea.
Char syndrome		A patent ductus arteriosus with facial dysmorphism..[+] A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. [-]
cardiac tuberculosis	cardiovascular tuberculosis	n_a
chondrodysplasia-pseudohermaphroditism syndrome	chondrodysplasia-disorder of sex development syndr.. [+] chondrodysplasia-disorder of sex development syndrome; Nivelon-Nivelon-Mabille syndrome [-]	A syndrome characterized by the clinical features ..[+] A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. [-]
chronic recurrent multifocal osteomyelitis	CRMO; chronic multifocal osteomyelitis	An osteomyelitis characterized by multiple foci of..[+] An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. [-]
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. [-]
corneal opacification and other ocular anomalies	sclerocornea with other ocular anomalies	A sclerocornea that has_material_basis_in homozygo..[+] A sclerocornea that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis. [-]
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. [-]
cerebral cavernous malformation	CCM; cerebral capillary malformations; cavernous a.. [+] cerebral capillary malformations; CCM; cavernous angiomatous malformations; familial cavernous angioma [-]	A vascular anomaly of the central nervous system c..[+] A vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support. [-]
cerebral cavernous malformation 2	CCM2	A cerebral cavernous malformation that_has_materia..[+] A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13. [-]
cerebral cavernous malformation 3	CCM3	A cerebral cavernous malformation that has_materia..[+] A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. [-]
catecholaminergic polymorphic ventricular tachycardia		A heart conduction disease characterized by adrene..[+] A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. [-]
catecholaminergic polymorphic ventricular tachycardia 1	CVPT1	A catecholaminergic polymorphic ventricular tachyc..[+] A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. [-]
catecholaminergic polymorphic ventricular tachycardia 2	CVPT2	A catecholaminergic polymorphic ventricular tachyc..[+] A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13 [-]
catecholaminergic polymorphic ventricular tachycardia 3	CVPT3	A catecholaminergic polymorphic ventricular tachyc..[+] A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. [-]
catecholaminergic polymorphic ventricular tachycardia 4	CVPT4	A catecholaminergic polymorphic ventricular tachyc..[+] A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. [-]
catecholaminergic polymorphic ventricular tachycardia 5	CVPT5	A catecholaminergic polymorphic ventricular tachyc..[+] A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. [-]
Cayman type cerebellar ataxia	Cayman cerebellar ataxia	A cerebellar ataxia characterized by marked autoso..[+] A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. [-]
congenital central hypoventilation syndrome	congenital central alveolar hypoventilation syndro.. [+] congenital central alveolar hypoventilation syndrome; central congenital hypoventilation syndrome; CCHS; Ondine curse; Ondine 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. [-]
chromosome 9p deletion syndrome	9p syndrome; Alfi syndrome; monosomy 9p syndrome	A chromosome deletion syndrome characterized by tr..[+] A chromosome deletion syndrome characterized by trigonocephaly, flattened occiput, midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. [-]
cleft lip-palate-ectodermal dysplasia syndrome	CLPED1; cleft lip/palate-syndactyly-pili torti syn.. [+] CLPED1; cleft lip/palate-syndactyly-pili torti syndrome; Margarita type of ectodermal dysplasia; syndactyly-ectodermal dysplasia-cleft/lip palate; Zlotogora-Zilberman-Tenenbaum syndrome [-]	An autosomal recessive disease characterized by cl..[+] An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. [-]
congenital diarrhea		A diarrhea characterized by frequent loose or liqu..[+] A diarrhea characterized by frequent loose or liquid bowel movements where the disease is present from birth. [-]
congenital diarrhea 5 with tufting enteropathy	congenital tufting enteropathy; congenital familia.. [+] congenital tufting enteropathy; congenital familial intractable diarrhea with epithelial or epithelium abnormalities; DIAR5; 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 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 diarrhea 7 with exudative enteropathy	congenital chronic diarrhea with protein-losing en.. [+] congenital chronic diarrhea with protein-losing enteropathy; congenital chronic diarrhea 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 malabsorptive diarrhea 4	congenital malabsorptive diarrhea due to paucity o.. [+] congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; enteric anendocrinosis [-]	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 diarrhea 6	chronic diarrhea due to guanylate cyclase 2C overa.. [+] chronic diarrhea 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 secretory sodium diarrhea 3	congenital secretory sodium diarrhoea 3 with or wi.. [+] congenital secretory sodium diarrhoea 3 with or without other congenital anomalies; congenital secretory sodium diarrhoea 3 syndromic; congenital secretory sodium diarrhoea 3; congenital secretory sodium diarrhea 3 with or without other congenital anomalies; congenital secretory sodium diarrhea 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. [-]
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	corpus callosum, agenesis of, with mental retardat.. [+] corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; Graham-Cox syndrome; mental retardation, X-linked, syndromic 28; MRXS28 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. [-]
Christianson syndrome	mental retardation, microcephaly, epilepsy, and at.. [+] mental retardation, microcephaly, epilepsy, and ataxia syndrome; mental retardation, X-linked syndromic, Christianson type; MRXSCH; X-linked Angelman-like syndrome; X-linked intellectual disability, South African type; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. [-]
CST3-related cerebral amyloid angiopathy	Cerebral Hemorrhage, Hereditary, with Amyloidosis; .. [+] Cerebral Hemorrhage, Hereditary, with Amyloidosis; Amyloidosis VI; Amyloidosis, Cerebroarterial, Icelandic Type; HCHWA; Hereditary Cerebral Hemorrhage with Amyloidosis [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21. [-]
Coffin-Siris syndrome 1	CSS1; autosomal dominant mental retardation 12; fi.. [+] CSS1; autosomal dominant mental retardation 12; fifth digit syndrome; MRD12 [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3. [-]
Coffin-Siris syndrome 2	CSS2; autosomal dominant mental retardation 14; MR.. [+] CSS2; autosomal dominant mental retardation 14; MRD14 [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1A 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 [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2. [-]
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. [-]

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