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Disease	Synonyms	Description	Articles
intracranial berry aneurysm	familial intracranial saccular aneurysm; familial .. [+] familial intracranial saccular aneurysm; familial aneurysmal subarachnoid hemorrhage; familial berry 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.	3 articles
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; hyper-IgM syndrome type 2; HIGM2 [-]	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 uracil N-glycosylase; hyper-IgM syndrome due to UNG deficiency [-]	A hyper IgM syndrome that is characterized by norm..[+] A hyper IgM syndrome that is 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 hyper IgM syndrome that is characterized by norm..[+] A hyper IgM syndrome that is 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	An isolated microphthalmia characterized by autoso..[+] An isolated 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; posterior microphthalmia with retinitis pig.. [+] MCOP5; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome [-]	An isolated microphthalmia characterized by autoso..[+] An isolated 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	An isolated microphthalmia characterized by unilat..[+] An isolated 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	An isolated microphthalmia that has_material_basis..[+] An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. [-]
isolated microphthalmia 8	MCOP8	An isolated microphthalmia characterized by bilate..[+] An isolated 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. [-]	1 articles
isolated growth hormone deficiency	IGHD; congenital isolated GH deficiency; familial .. [+] IGHD; congenital isolated GH deficiency; familial isolated growth hormone deficiency; non-acquired isolated growth hormone deficiency; congenital isolated growth hormone deficiency; congenital IGHD [-]	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 growth hormone deficiency type II; congenital isolated GH 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; primordial dwarfism; sexual ateleiotic dwarfism; pituitary dwarfism I [-]	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; dwarfism of Sindh; congenital isolated growth hormone deficiency type IB [-]	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 isolated GH deficiency type I.. [+] IGHD III; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; growth hormone deficiency with hypogammaglobulinemia; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency; congenital IGHD type III; Fleisher syndrome; X-linked hypogammaglobulinemia and 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. [-]
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 absorption 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 the ITM2B gene on chromosome 13q14.2. [-]
infantile-onset distal myopathy		A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. [-]
intrahepatic cholestasis of pregnancy	ICP; gravidic intrahepatic cholestasis; pregnancy .. [+] ICP; gravidic intrahepatic cholestasis; pregnancy related cholestasis; recurrent intrahepatic cholestasis of pregnancy [-]	An intrahepatic cholestasis characterized by rever..[+] An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. [-]
infantile parkinsonism-dystonia 2	Brain dopamine-serotonin vesicular transport disea.. [+] Brain dopamine-serotonin vesicular transport disease; PKDYS2 [-]	A movement disease characterized by parkinsonism, ..[+] A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. [-]
inflammatory poikiloderma with hair abnormalities and acral keratoses	IPHAK; LIPHAK; LIPHAK syndrome	A skin disease characterized by mottled hyper- and..[+] A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. [-]
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. [-]
intestinal pseudo-obstruction	neuronal intestinal dysplasia; Chronic intestinal .. [+] neuronal intestinal dysplasia; Chronic intestinal pseudo-obstruction [-]	A colonic disease that is characterized by bowel o..[+] A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. [-]
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. [-]
IgG4-related disease		An autoimmune disease that is characterized by tum..[+] An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. [-]
infantile or early childhood epileptic encephalopathy 1		An electroclinical syndrome characterized by onset..[+] An electroclinical syndrome characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. [-]
isolated microphthalmia		A microphthalmia that occurs by itself.	1 articles
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. [-]
infantile liver failure syndrome 1		An infantile liver failure syndrome that has_mater..[+] An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. [-]
intermittent asthma		A chronic asthma that is characterized by severity..[+] A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. [-]
intracranial meningioma		A meningioma that arises within the cranial cavity..[+] A meningioma that arises within the cranial cavity. [-]
IgA pemphigus		A pemphigus that is characterized by painful and p..[+] A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. [-]
IDH-mutant anaplastic astrocytoma		An anaplastic astrocytoma carrying IDH mutations.
IDH-wildtype anaplastic astrocytoma		An anaplastic astrocytoma lacking mutations in IDH..[+] An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. [-]
IDH-mutant and 1p/19q-codeleted oligodendroglioma	anaplastic oligodendroglioma, IDH-mutant and 1p/19.. [+] anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted; Oligodendroglioma, IDH-mutant and 1p/19q-codeleted [-]	An anaplastic oligodendroglioma that has_material_..[+] An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). [-]
immunoglobulin light chain amyloidosis	AL amyloidosis; Light chain amyloidosis; Amyloidos.. [+] AL amyloidosis; Light chain amyloidosis; Amyloidosis primary systemic; 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. [-]
immunoglobulin heavy chain amyloidosis	Ig heavy-chain–associated amyloidosis; AH amyloido.. [+] Ig heavy-chain–associated amyloidosis; AH amyloidosis; Amyloidosis derived from immunoglobulin heavy chain; Heavy chain amyloidosis [-]	An amyloidosis that is characterized by the aggreg..[+] An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. [-]
immunoglobulin heavy-and-light chain	Ig heavy-and-light-chain amyloidosis; AH/AL amyloi.. [+] Ig heavy-and-light-chain amyloidosis; AH/AL amyloidosis [-]	An amyloidosis that is characterized by both Ig he..[+] An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. [-]
intracranial berry aneurysm 1		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 7q11.2. [-]
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 5		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 Xp22. [-]

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