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I-Cell Disease
see
mucolipidosis II alpha/beta
I2S deficiency
see
mucopolysaccharidosis type II
IAHSP
see
infantile-onset ascending hereditary spastic paralysis
IBD deficiency
see
isobutyryl-CoA dehydrogenase deficiency
IBIDS
see
trichothiodystrophy
IBM2
see
inclusion body myopathy 2
IBMPFD
see
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
ichthyoses, lamellar
see
lamellar ichthyosis
Ichthyosiform Erythroderma, Congenital
ichthyosiform erythroderma, corneal involvement, and deafness
see
keratitis-ichthyosis-deafness syndrome
Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs
see
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Ichthyosis
Ichthyosis Congenita, Harlequin Fetus Type
see
harlequin ichthyosis
ichthyosis, lamellar
see
lamellar ichthyosis
ichthyosis oligophrenia syndrome
see
Sjögren-Larsson syndrome
Ichthyotic neutral lipid storage disease
see
Chanarin-Dorfman syndrome
idic(15)
see
isodicentric chromosome 15 syndrome
idiopathic hyperphosphatasia
see
juvenile Paget disease
idiopathic infantile nystagmus
see
X-linked infantile nystagmus
idiopathic inflammatory myopathy
idiopathic juvenile osteoporosis
see
juvenile primary osteoporosis
idiopathic myelofibrosis
see
primary myelofibrosis
idiopathic proctocolitis
see
ulcerative colitis
idiopathic pulmonary fibrosis
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
imidodipeptidase deficiency
see
prolidase deficiency
immotile cilia syndrome
see
primary ciliary dyskinesia
immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Immune System and Disorders
immunodeficiency 2
see
Wiskott-Aldrich syndrome
immunodeficiency, common variable
see
common variable immune deficiency
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
Inclusion Cell Disease
see
mucolipidosis II alpha/beta
incontinentia pigmenti
infancy hyperinsulinemia hypoglycemia
see
familial hyperinsulinism
infantile epileptic-dyskinetic encephalopathy
see
X-linked infantile spasm syndrome
infantile genetic agranulocytosis
see
severe congenital neutropenia
infantile hemiplegia with porencephaly
see
familial porencephaly
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-onset spinocerebellar ataxia
infantile subacute necrotizing encephalopathy
see
Leigh syndrome
infantile systemic hyalinosis
infantile thoracic dystrophy
see
asphyxiating thoracic dystrophy
Infectious Mononucleosis
see
X-linked lymphoproliferative disease
Infertility
inflammatory bowel disease, ulcerative colitis type
see
ulcerative colitis
inflammatory myopathy, idiopathic
see
idiopathic inflammatory myopathy
inherited emphysema
see
alpha-1 antitrypsin deficiency
inherited erythroblastopenia
see
Diamond-Blackfan anemia
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
inherited thyroxine-binding globulin deficiency
Insley-Astley syndrome
see
otospondylomegaepiphyseal dysplasia
intellectual deficit, X-linked, South African type
see
Christianson syndrome
intermittent ataxia with pyruvate dehydrogenase deficiency
see
pyruvate dehydrogenase deficiency
interstitial deletion of chromosome 15q24
see
15q24 microdeletion
interstitial lung disease due to surfactant deficiency
see
surfactant dysfunction
Interstitial Lung Diseases
Intestinal Cancer
see
gastrointestinal stromal tumor
Intestinal Obstruction
Intestinal polyposis-cutaneous pigmentation syndrome
see
Peutz-Jeghers syndrome
intestinal pseudo-obstruction
intracerebral cavernous hemangioma
see
cerebral cavernous malformation
intrahepatic cholestasis of pregnancy
intranuclear rod myopathy
inv dup(15)
see
isodicentric chromosome 15 syndrome
inverted duplication 15
see
isodicentric chromosome 15 syndrome
inverted smile and occult neuropathic bladder
see
Ochoa syndrome
inverted smile-neurogenic bladder
see
Ochoa syndrome
IOMID syndrome
see
neonatal onset multisystem inflammatory disease
IOSCA
see
infantile-onset spinocerebellar ataxia
IP
see
incontinentia pigmenti
IPEX syndrome
see
immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
IPF
see
idiopathic pulmonary fibrosis
IPO
see
intestinal pseudo-obstruction
IRAK-4 deficiency
IRAK4 deficiency
see
IRAK-4 deficiency
Iron
Iron storage disorder
see
hemochromatosis
iron-sulfur cluster deficiency myopathy
see
myopathy with deficiency of iron-sulfur cluster assembly enzyme
isobutyryl-CoA dehydrogenase deficiency
isobutyryl-coenzyme A dehydrogenase deficiency
see
isobutyryl-CoA dehydrogenase deficiency
isochromosome 12p syndrome
see
Pallister-Killian mosaic syndrome
18p isochromosome
see
tetrasomy 18p
isodicentric chromosome 15 syndrome
Isolated deafness
see
nonsyndromic deafness
isolated Duane retraction syndrome
isolated growth hormone deficiency
isolated holoprosencephaly
see
nonsyndromic holoprosencephaly
isolated HPE
see
nonsyndromic holoprosencephaly
isolated methylmalonic acidemia
see
methylmalonic acidemia
isovaleric acidemia
Isovaleryl-CoA dehydrogenase deficiency
see
isovaleric acidemia
ISSX
see
X-linked infantile spasm syndrome
IVA
see
isovaleric acidemia
IVD deficiency
see
isovaleric acidemia
Published: February 11, 2013