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IAHSP see infantile-onset ascending hereditary spastic paralysis
IBD deficiency see isobutyryl-coenzyme A dehydrogenase deficiency
Ichthyosis Congenita, Harlequin Fetus Type see harlequin ichthyosis
Idiopathic pulmonary hypertension see pulmonary arterial hypertension
Ileitis see Crohn disease
Ileocolitis see Crohn disease
immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Immune System and Disorders
imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
INAD see infantile neuroaxonal dystrophy
incontinentia pigmenti
Infantile hypercalcemia see Williams syndrome
Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
infantile neuroaxonal dystrophy
infantile-onset ascending hereditary spastic paralysis
Infertility
inherited emphysema see alpha-1 antitrypsin deficiency
Inherited Human Transmissible Spongiform Encephalopathies see prion disease
inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies
Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
Intracerebral Cavernous Hemangioma see cerebral cavernous malformation
IP see incontinentia pigmenti
IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Iron storage disorder see hemochromatosis
isobutyryl-CoA dehydrogenase deficiency see isobutyryl-coenzyme A dehydrogenase deficiency
isobutyryl-coenzyme A dehydrogenase deficiency
Isolated deafness see nonsyndromic deafness
isovaleric acidemia
Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidemia
IVA see isovaleric acidemia
IVD deficiency see isovaleric acidemia


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