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I2S deficiency
see
mucopolysaccharidosis type II
IAHSP
see
infantile-onset ascending hereditary spastic paralysis
IBD deficiency
see
isobutyryl-coenzyme A dehydrogenase deficiency
IBM2
see
inclusion body myopathy 2
IBMPFD
see
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs
see
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Ichthyosis Congenita, Harlequin Fetus Type
see
harlequin ichthyosis
Ichthyotic neutral lipid storage disease
see
Chanarin-Dorfman syndrome
Idiopathic pulmonary hypertension
see
pulmonary arterial hypertension
IDUA deficiency
see
mucopolysaccharidosis type I
Iduronate 2-sulfatase deficiency
see
mucopolysaccharidosis type II
Ileitis
see
Crohn disease
Ileocolitis
see
Crohn disease
IMD2
see
Wiskott-Aldrich syndrome
immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Immune System and Disorders
immunodeficiency 2
see
Wiskott-Aldrich syndrome
Immunodeficiency with Hyper-IgM, type 1
see
X-linked hyper IgM syndrome
immunoosseous dysplasia, Schimke type
see
Schimke immuno-osseous dysplasia
imperforate anus-hand and foot anomalies syndrome
see
Townes-Brocks Syndrome
INAD
see
infantile neuroaxonal dystrophy
inclusion body myopathy 2
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
incontinentia pigmenti
Infantile hypercalcemia
see
Williams syndrome
infantile leukoencephalopathy and megalencephaly
see
megalencephalic leukoencephalopathy with subcortical cysts
Infantile Multiple Carboxylase Deficiency
see
holocarboxylase synthetase deficiency
infantile neuroaxonal dystrophy
infantile-onset ascending hereditary spastic paralysis
infantile onset multisystem inflammatory disease
see
neonatal onset multisystem inflammatory disease
infantile systemic hyalinosis
infantile thoracic dystrophy
see
asphyxiating thoracic dystrophy
Infertility
inherited emphysema
see
alpha-1 antitrypsin deficiency
Inherited Human Transmissible Spongiform Encephalopathies
see
prion disease
inherited systemic hyalinosis
see
infantile systemic hyalinosis
;
juvenile hyaline fibromatosis
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
IOMID syndrome
see
neonatal onset multisystem inflammatory disease
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
Published: January 23, 2009