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Disease	Synonyms	Description	Articles	Phenotypes
chronic venous insufficiency		n_a
colorectal adenoma		An intestinal benign neoplasm that has_material_ba..[+] An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. [-]
colorectal adenocarcinoma		A colorectal carcinoma that derives_from epithelia..[+] A colorectal carcinoma that derives_from epithelial cells of glandular origin. [-]	1 articles
Caroli disease		A bile duct disease that is characterized by abnor..[+] A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. [-]
corpus callosum oligodendroglioma		A brain oligodendroglioma located_in the corpus ca..[+] A brain oligodendroglioma located_in the corpus callosum. [-]
conjunctival nevus		A sensory organ benign neoplasm that is located in..[+] A sensory organ benign neoplasm that is located in the eye conjunctiva. [-]
cecum adenoma	caecum adenoma	A cecal benign neoplasm that has_material_basis_in..[+] A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [-]
colon adenoma		A colonic benign neoplasm that has_material_basis_..[+] A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [-]
cervical neuroblastoma		An extracranial neuroblastoma that has_material_ba..[+] An extracranial neuroblastoma that has_material_basis_in immature nerve cells. [-]
Charlevoix-Saguenay spastic ataxia		An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. [-]
cerebellar ataxia, mental retardation and dysequlibrium syndrome	Cerebellar Ataxia, Mental Retardation, and Dysequi.. [+] Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1); CAMRQ; VLDLR Cerebellar Hypoplasia; Uner Tan syndrome [-]	An syndrome characterized by congenital onset of n..[+] An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. [-]
C1 inhibitor deficiency	Quincke edema	A complement deficiency that is a functional defic..[+] A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. [-]
CD3zeta deficiency		A severe combined immunodeficiency that affects th..[+] A severe combined immunodeficiency that affects the development and function of T cells. [-]
CD45 deficiency		A severe combined immunodeficiency that is an auto..[+] A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. [-]
CD3delta deficiency	CD3D	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. [-]
CD3epsilon deficiency		A severe combined immunodeficiency that is an auto..[+] A severe combined immunodeficiency that is an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. [-]
CD3gamma deficiency		A severe combined immunodeficiency that has_materi..[+] A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. [-]
coronin-1A deficiency		A severe combined immunodeficiency that is an acti..[+] A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. [-]
CD40 ligand deficiency	HIGMX-1; X-linked hyper-IgM syndrome	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [-]
cell type benign neoplasm		A benign neoplasm that is classified by the type o..[+] A benign neoplasm that is classified by the type of cell or tissue from which it is derived. [-]	7 articles	4 matches
central nervous system benign neoplasm		A nervous system benign neoplasm that is character..[+] A nervous system benign neoplasm that is characterized by lack of malignancy. [-]	1 articles
cardiovascular organ benign neoplasm		An organ system benign neoplasm disease located_in..[+] An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. [-]
cartilage cancer		A connective tissue tumor that can be a benign cho..[+] A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. [-]
central nervous system embryonal tumor	CNS embryonal tumour, NEC/NOS; central nervous sys.. [+] CNS embryonal tumour, NEC/NOS; central nervous system primitive neuroectodermal neoplasm [-]	A central nervous system cancer of children and yo..[+] A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. [-]
cerebellar medulloblastoma		A cerebellum cancer that begins in the lower part ..[+] A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. [-]
cervical benign neoplasm		n_a
connective tissue benign neoplasm	soft tissue benign neoplasm; tumor of the soft tis.. [+] soft tissue benign neoplasm; tumor of the soft tissue; neoplasm of soft tissue; neoplasm of soft tissues; mesenchymal tissue neoplasm [-]	A musculoskeletal system benign neoplasm that is l..[+] A musculoskeletal system benign neoplasm that is located_in connective tissue. [-]
color agnosia		An agnosia that is a loss of the ability to recogn..[+] An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. [-]
cortical deafness		An agnosia that is a loss of the ability to percei..[+] An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. [-]
childhood spinal muscular atrophy	spinal muscular atrophies of childhood; survival m.. [+] spinal muscular atrophies of childhood; survival motor neuron spinal muscular atrophy [-]	A spinal muscular atrophy that is associated with ..[+] A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. [-]	1 articles
colitis		An inflammatory bowel disease that involves inflam..[+] An inflammatory bowel disease that involves inflammation located_in colon. [-]	1 articles
collagenous colitis		A colitis characterized by a distinctive thickenin..[+] A colitis characterized by a distinctive thickening of the subepithelial collagen table. [-]
Clostridium difficile colitis	Pseudomembranous colitis	A colitis characterized by an overgrowth of Clostr..[+] A colitis characterized by an overgrowth of Clostridium difficile bacteria. [-]
chemical colitis		A colitis caused_by introduction of various chemic..[+] A colitis caused_by introduction of various chemicals. [-]
Crohn's colitis		An inflammatory bowel disease characterized by inf..[+] An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. [-]
Cogan syndrome	Cogan's syndrome; diffuse interstitual keratitis	An eye disease characterized by nonsyphilitic inte..[+] An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [-]
Cogan-Reese syndrome		An eye disease characterized by variable iris atro..[+] An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. [-]
CREST syndrome		A syndrome characterized by calcinosis, Raynaud's ..[+] A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. [-]
cardiofaciocutaneous syndrome	CFC syndrome; cardio-facial-cutaneous syndrome	A RASopathy characterized by unusually sparse, bri..[+] A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. [-]	1 articles
Carpenter syndrome	acrocephalopolysyndactyly type II	An acrocephalosyndactylia characterized by cranios..[+] An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [-]
carnitine palmitoyltransferase II deficiency	CPT-II; lethal neonatal carnitine palmitoyltransfe.. [+] CPT-II; lethal neonatal carnitine palmitoyltransferase II deficiency; infantile carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency [-]	A lipid metabolism disorder characterized by an en..[+] A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [-]
congenital ptosis		A ptosis characterized by eyelid drop present at b..[+] A ptosis characterized by eyelid drop present at birth. [-]
combined oxidative phosphorylation deficiency		A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. [-]
cornea plana	flat cornea	n_a
cold-induced sweating syndrome	Crisponi syndrome; Sohar-Crisponi syndrome	A syndrome that is characterized by profuse sweati..[+] A syndrome that is characterized by profuse sweating induced by cold ambient temperature. [-]
complement component 2 deficiency		n_a
congenital secretory chloride diarrhea 1	congenital secretory chloride diarrhoea 1; congeni.. [+] congenital secretory chloride diarrhoea 1; congenital chloride diarrhoea finnish type; congenital chloridorrhea; congenital chloride diarrhea finnish type [-]	A secretory diarrhea that has_material_basis_in mu..[+] A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. [-]	3 articles
complement component 4a deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. [-]
complement component 4b deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. [-]
complement component 6 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. [-]

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