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Disease	Synonyms	Description
integumentary system benign neoplasm		An organ system benign neoplasm located_in the int..[+] An organ system benign neoplasm located_in the integumentary system organs. [-]
integumentary system cancer		An organ system cancer that is located_in the skin..[+] An organ system cancer that is located_in the skin, hair and nails. [-]
integrative agnosia		An agnosia that is a loss of the ability to integr..[+] An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. [-]
ischemic colitis		A colitis caused_by inadequate blood supply to the..[+] A colitis caused_by inadequate blood supply to the colon. [-]
ileitis	Crohn's ileitis	An inflammatory bowel disease characterized by inf..[+] An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. [-]
ileocolitis		An inflammatory bowel disease characterized by inf..[+] An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. [-]
intracranial berry aneurysm	familial aneurysmal subarachnoid hemorrhage; famil.. [+] familial aneurysmal subarachnoid hemorrhage; familial berry aneurysm; familial intracranial saccular aneurysm; saccular cerebral aneurysm [-]	An intracranial aneurysm with a characteristic rou..[+] An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. [-]
idiopathic scoliosis		A scoliosis with no known cause.
inguinal hernia		An intestinal disease characterized by a protrusio..[+] An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. [-]
Indian plum allergy	Ziziphus mauritiana fruit allergy	A fruit allergy triggered by Ziziphus mauritiana p..[+] A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. [-]
Indian prawn allergy	Fenneropenaeus indicus allergy	A crustacean allergy triggered by Fenneropenaeus i..[+] A crustacean allergy triggered by Fenneropenaeus indicus. [-]
isolated anhidrosis with normal sweat glands	Dann-Epstein-Sohar syndrome	An anhidrosis that has_material_basis in homozygou..[+] An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11. [-]
immunodeficiency with hyper-IgM type 2	activation-induced cytidine deaminase deficiency; .. [+] activation-induced cytidine deaminase deficiency; AID deficiency; HIGM2; hyper-IgM syndrome type 2 [-]	A hyper IgM syndrome that is characterized by norm..[+] A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. [-]
immunodeficiency with hyper IgM type 5	HIGM5; hyper-IgM syndrome 5; hyper-IgM syndrome du.. [+] HIGM5; hyper-IgM syndrome 5; hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome due to uracil N-glycosylase [-]	A hyperimmunoglobulin syndrome characterized by no..[+] A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. [-]
immunodeficiency with hyper-IgM type 4	HIGM4; hyper-IgM syndrome type 4	A hyperimmunoglobulin syndrome characterized by no..[+] A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. [-]
isolated microphthalmia 6	MCOP6; posterior nonsyndromic microphthalmia	A microphthalmia characterized by autosomal recess..[+] A microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. [-]
isolated microphthalmia 4	MCOP4	An isolated microphthalmia that has_material_basis..[+] An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. [-]
isolated microphthalmia 5	MCOP5; microphthalmia-retinitis pigmentosa-foveosc.. [+] MCOP5; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen [-]	A microphthalmia characterized by autosomal recess..[+] A microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. [-]
isolated microphthalmia 7	MCOP7	A microphthalmia characterized by unilateral micro..[+] A microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. [-]
isolated microphthalmia 2	MCOP2	An isolated microphthalmia characterized by autoso..[+] An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. [-]
isolated microphthalmia 1	MCOP1	A microphthalmia that has_material_basis_in variat..[+] A microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. [-]
isolated microphthalmia 8	MCOP8	A microphthalmia characterized by bilateral sever..[+] A microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. [-]
isolated microphthalmia 3	MCOP3	An isolated microphthalmia characterized by clinic..[+] An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. [-]
isolated growth hormone deficiency	IGHD; congenital IGHD; congenital isolated GH defi.. [+] IGHD; congenital IGHD; congenital isolated GH deficiency; congenital isolated growth hormone deficiency; familial isolated growth hormone deficiency; non-acquired isolated growth hormone deficiency [-]	A hypopituitarism characterized by abnormally low ..[+] A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. [-]
isolated growth hormone deficiency type II	IGHD II; autosomal dominant isolated growth hormon.. [+] IGHD II; autosomal dominant isolated growth hormone deficiency; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; congenital IGHD type II; congenital isolated GH deficiency type II; congenital isolated growth hormone deficiency type II [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. [-]
isolated growth hormone deficiency type IA	IGHD IA; Illig-type growth hormone deficiency; aut.. [+] Illig-type growth hormone deficiency; IGHD IA; autosomal recessive isolated growth hormone deficiency; pituitary dwarfism I; primordial dwarfism; sexual ateleiotic dwarfism [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. [-]
isolated growth hormone deficiency type IB	IGHD IB; congenital IGHD type IB; congenital isola.. [+] IGHD IB; congenital IGHD type IB; congenital isolated GH deficiency type IB; congenital isolated growth hormone deficiency type IB; dwarfism of Sindh [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. [-]
isolated growth hormone deficiency type III	IGHD III; congenital IGHD type III; congenital iso.. [+] IGHD III; congenital IGHD type III; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; Fleisher syndrome; growth hormone deficiency with hypogammaglobulinemia; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
ichthyosis bullosa of Siemens	bullous type ichthyosis; superficial epidermolytic.. [+] bullous type ichthyosis; superficial epidermolytic ichthyosis [-]	An ichthyosis characterized by autosomal dominant ..[+] An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
intestinal hypomagnesemia 1	intestinal hypomagnesemia with secondary hypocalce.. [+] intestinal hypomagnesemia with secondary hypocalcemia; HOMG1; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; hypomagnesemic tetany; primary hypomagnesemia with secondary hypocalcemia [-]	A hypomagnesemia characterized by very low serum m..[+] A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. [-]
ITM2B-related cerebral amyloid angiopathy 1	Cerebral Amyloid Angiopathy, British Type; Familia.. [+] Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD; Presenile Dementia with Spastic Ataxia [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
ITM2B-related cerebral amyloid angiopathy 2	Cerebellar Ataxia, Cataract, Deafness, and Dementi.. [+] Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Familial Danish Dementia; FDD; Heredopathia Ophthalmootoencephalica; HOOE [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. [-]
intrahepatic cholestasis of pregnancy 1	ICP1; pregnancy related cholestasis 1	An intrahepatic cholestasis of pregnancy character..[+] An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. [-]
ischemic bone disease		A bone disease that results_in an interruption of ..[+] A bone disease that results_in an interruption of blood supply located_in bone. [-]
inclusion-cell disease	I-cell disease; mucolipidosis II	n_a
infantile myofibromatosis		A connective tissue benign neoplasm that is charac..[+] A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. [-]
infantile histiocytoid cardiomyopathy		An intrinsic cardiomyopathy characterized by the p..[+] An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. [-]
infantile liver failure syndrome		A syndrome that is characterized by acute liver fa..[+] A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. [-]
IDH-mutant anaplastic astrocytoma		An anaplastic astrocytoma carrying IDH mutations.
immunoglobulin light chain amyloidosis	AL amyloidosis; Amyloidosis primary systemic; Ligh.. [+] AL amyloidosis; Amyloidosis primary systemic; Light chain amyloidosis; Primary AL amyloidosis; Primary systemic AL amyloidosis; Primary systemic amyloidosis; Systemic AL amyloidsis [-]	An amyloidosis that is characterized by misfolded ..[+] An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. [-]
intracranial berry aneurysm 3		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. [-]
intracranial berry aneurysm 6		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. [-]
intracranial berry aneurysm 12		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. [-]
intellectual developmental disorder with cardiac arrhythmia	GNB5-related intellectual disability-cardiac arrhy.. [+] GNB5-related intellectual disability-cardiac arrhythmia syndrome [-]	A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. [-]
infant-type hemispheric glioma		A malignant astrocytoma that is characterized by r..[+] A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. [-]
intellectual developmental disorder with ocular anomalies and distinctive facial features	IDDOF; MTSS2-related neurodevelopmental disorder	A syndromic intellectual disability that is charac..[+] A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome	ICF syndrome	An autosomal recessive disease characterized by im..[+] An autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome 1	ICF syndrome 1	An immunodeficiency-centromeric instability-facial..[+] An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome 2	ICF syndrome 2	An immunodeficiency-centromeric instability-facial..[+] An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome 3	ICF syndrome 3	An immunodeficiency-centromeric instability-facial..[+] An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. [-]

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