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Disease	Synonyms	Description	Articles
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. [-]
infantile hypotonia with psychomotor retardation and characteristic facies-3	IHPRF3; HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RET.. [+] IHPRF3; HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; TBCK-related intellectual disability syndrome [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. [-]
interstitial lung disease 1	Idiopathic pulmonary fibrosis	An interstitial lung disease characterized by a pr..[+] An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. [-]
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. [-]

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