Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
cepacia syndrome	CS	An opportunistic bacterial infectious disease char..[+] An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. [-]
congenital glutamine deficiency	congenital systemic glutamine synthase deficiency; .. [+] congenital systemic glutamine synthase deficiency; GLND [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. [-]
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. [-]	27 articles	19 matches
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. [-]	1 articles
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. [-]
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 myopathy 4A	congenital fiber-type disproportion; CFTD	A congenital myopathy that is characterized by ske..[+] A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. [-]
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 occurring during chi..[+] An acute lymphocytic leukemia occurring during childhood. [-]
childhood T-cell acute lymphoblastic leukemia	childhood precursor T-lymphoblastic lymphoma/leuke.. [+] childhood precursor T-lymphoblastic lymphoma/leukemia; T-cell childhood acute lymphocytic leukemia [-]	A childhood acute lymphoblastic leukemia that has_..[+] A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. [-]
childhood B-cell acute lymphoblastic leukemia		A childhood acute lymphoblastic leukemia that has_..[+] A childhood acute lymphoblastic leukemia that has_material_basis in B-cells. [-]
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. [-]	1 articles
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. [-]	8 articles	21 matches
CAKUT1	Congenital anomalies of the kidney and urinary tra.. [+] Congenital anomalies of the kidney and urinary tract 1 [-]	A CAKUT that has_material_basis_in heterozygous mu..[+] 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. [-]
Clark-Baraitser syndrome	CLABARS; autosomal dominant intellectual disabilit.. [+] CLABARS; autosomal dominant intellectual disability 49; autosomal dominant mental retardation 49; Baraitser syndrome [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. [-]
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. [-]
Coffin-Siris syndrome 6		A Coffin-Siris syndrome that is characterized by s..[+] A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that\nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. [-]
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. [-]
cone-rod dystrophy 14		A cone-rod dystrophy that is characterized by dete..[+] A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. [-]
Culler-Jones syndrome		A syndrome that is characterized by hypopituitaris..[+] A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. [-]
cold-induced sweating syndrome 1		A cold-induced sweating syndrome that has_material..[+] A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. [-]
cold-induced sweating syndrome 2		A cold-induced sweating syndrome that has_material..[+] A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. [-]
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. [-]
CLOVES syndrome	congenital lipomatous overgrowth, vascular malform.. [+] congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [-]	A syndrome that is characterized by congenital lip..[+] A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. [-]
chronic eosinophilic leukemia		A chronic leukemia characterized by a clonal proli..[+] A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. [-]
cerebral cavernous malformation 1		A cerebral cavernous malformation that has_materia..[+] A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. [-]
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 2		A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. [-]
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. [-]
Cornelia de Lange syndrome 4	Cornelia De Lange syndrome 4 with or without midli.. [+] Cornelia De Lange syndrome 4 with or without midline brain defects; CDLS4 [-]	A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. [-]
Cornelia de Lange syndrome 5		A Cornelia de Lange syndrome that has_material_bas..[+] A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. [-]
Carney-Stratakis syndrome		A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. [-]
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 Iaa	congenital disorder of glycosylation 1aa	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. [-]
congenital disorder of glycosylation Ib	congenital disorder of glycosylation 1b	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. [-]
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. [-]

???pagination.result.page??? ???pagination.result.prev??? 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 ???pagination.result.next???