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Disease	Synonyms	Description
congenital nongoitrous hypothyroidism 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 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 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 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. [-]
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. [-]
celery allergy		A vegetable allergy triggered by celery (Apium gra..[+] A vegetable allergy triggered by celery (Apium graveolens). [-]
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 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. [-]
chromosomal disease		A genetic disease that has_material_basis_in extra..[+] A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. [-]
craniodiaphyseal dysplasia		An osteosclerosis that results_in increased calciu..[+] An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. [-]
craniometaphyseal dysplasia		An osteosclerosis that is characterized by hyperos..[+] An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. [-]
Charcot-Marie-Tooth disease type 5	hereditary motor and sensory neuropathy with pyram.. [+] hereditary motor and sensory neuropathy with pyramidal features [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. [-]
Charcot-Marie-Tooth disease type 6	hereditary motor and sensory neuropathy type 6	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. [-]
Charcot-Marie-Tooth disease type 7		A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. [-]
congenital myopathy		n_a
Compton-North congenital myopathy	congenital myopathy 12	A congenital myopathy that has_material_basis_in h..[+] A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. [-]
congenital fiber-type disproportion		n_a
cylindrical spirals myopathy		A congenital myopathy that is characterized by glo..[+] A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions. [-]
contractures, pterygia, and spondylocarpotarsal fusion syndrome	multiple pterygium syndrome	A syndrome that is characterized by permanently be..[+] A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. [-]
congenital fibrosis of the extraocular muscles	Tukel syndrome	An ocular motility disease that is characterized b..[+] An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. [-]
childhood acute lymphocytic leukemia	Childhood Acute Lymphoblastic Leukemia	An acute lymphocytic leukemia occuring during chil..[+] An acute lymphocytic leukemia occuring during childhood. [-]
Cryptococcal meningitis		A fungal meningitis that has_material_basis in Cry..[+] A fungal meningitis that has_material_basis in Crypococcus fungal infection. [-]
Cytomegalovirus retinitis	CMV retinitis	A retinitis that has_material_basis_in Cytomegalov..[+] A retinitis that has_material_basis_in Cytomegalovirus. [-]
cutaneous candidiasis		A candidiasis that is characterized by Candida inf..[+] A candidiasis that is characterized by Candida infection located_in the skin. [-]
cloacal exstrophy		A bladder exstrophy-epispadias-cloacal exstrophy c..[+] A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. [-]
chronic neutrophilic leukemia		A chronic leukemia characterized by neutrophilic l..[+] A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. [-]
chronic myelomonocytic leukemia		A chronic leukemia characterized by monocytosis, i..[+] A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. [-]
Carey-Fineman-Ziter syndrome		A syndrome characterized by hypotonia, Moebius seq..[+] A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. [-]
congenital muscular dystrophy with cataracts and intellectual disability		A congenital muscular dystrophy characterized by o..[+] A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. [-]
colorectal carcinoma		A colorectal cancer that arises from the colon or ..[+] A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. [-]
CAKUT	Congenital anomalies of the kidney and urinary tra.. [+] Congenital anomalies of the kidney and urinary tract; Renal or urinary tract malformation [-]	A urinary system disease characterized by structur..[+] A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. [-]
CAKUT1		A CAKUT that has_material_ basis_in heterozygous m..[+] A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. [-]
CAKUT2	Congenital anomalies of the kidney and urinary tra.. [+] Congenital anomalies of the kidney and urinary tract 2 [-]	A CAKUT that has_material_basis_in heterozygous mu..[+] A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. [-]
Charcot-Marie-Tooth disease dominant intermediate G		A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. [-]
cleft palate-lateral synechia syndrome	CPLS syndrome; syngnathia	A physical disorder that is characterized by fusio..[+] A physical disorder that is characterized by fusion of maxilla and mandible. [-]
cold-induced sweating syndrome 3		A cold-induced sweating syndrome that has_material..[+] A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. [-]
Cornelia de Lange syndrome 1		A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. [-]
Cornelia de Lange syndrome 3	Cornelia De Lange syndrome 3 with or without midli.. [+] Cornelia De Lange syndrome 3 with or without midline brain defects; CDLS3 [-]	A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. [-]
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 Ic	congenital disorder of glycosylation 1c	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. [-]
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 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 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 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 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 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 myasthenic syndrome 22		A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. [-]
congenital myopathy 6	inclusion body myopathy 3; proximal myopathy and o.. [+] inclusion body myopathy 3; proximal myopathy and ophthalmoplegia [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]

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