I

• I cell disease

• ICF syndrome

• Ichthyosiform erythroderma, corneal involvement, deafness

• Ichthyosis alopecia eclabion ectropion mental retardation

• Ichthyosis bullosa of Siemens

• Ichthyosis cheek eyebrow syndrome

• Ichthyosis congenita biliary atresia

• Ichthyosis follicularis atrichia photophobia syndrome

• Ichthyosis hystrix gravior

• Ichthyosis hystrix, Curth Macklin type

• Ichthyosis lamellar 1

• Ichthyosis lamellar 2

• Ichthyosis lamellar 3

• Ichthyosis lamellar, autosomal dominant

• Ichthyosis linearis circumflexa

• Ichthyosis prematurity syndrome

• Ichthyosis tapered fingers midline groove up

• Ichthyosis vulgaris

• Ichthyosis with hypotrichosis, autosomal recessive

• Ichthyosis, acquired

• Ichthyosis, erythrokeratolysis hemalis

• Ichthyosis, follicular

• Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

• Ichthyosis, mental retardation, dwarfism and renal impairment

• Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin

• Idiopathic achalasia

• Idiopathic acute eosinophilic pneumonia

• Idiopathic alveolar hypoventilation syndrome

• Idiopathic basal ganglia calcification childhood-onset

• Idiopathic CD4 positive T-lymphocytopenia

• Idiopathic dilatation of the pulmonary artery

• Idiopathic double athetosis

• Idiopathic eosinophilic chronic pneumopathy

• Idiopathic hypersomnia

• Idiopathic hypertrophic pachymeningitis

• Idiopathic inflammatory myopathy

• Idiopathic juxtafoveal retinal telangiectasia

• Idiopathic pulmonary fibrosis

• Idiopathic pulmonary hemosiderosis

• Idiopathic spinal cord herniation

• Idiopathic subglottic tracheal stenosis

• Idiopathic thrombocytopenic purpura

• IgA nephropathy

• IgG4-related dacryoadenitis and sialadenitis

• IgG4-related disease

• Iida Kannari syndrome

• IL12RB1 deficiency

• IMAGe syndrome

• Imaizumi Kuroki syndrome

• Imerslund-Grasbeck syndrome

• Iminoglycinuria

• Immotile cilia syndrome, due to defective radial spokes

• Immune defect due to absence of thymus

• Immune deficiency, familial variable

• Immune dysfunction with T-cell inactivation due to calcium entry defect 1

• Immune dysfunction with T-cell inactivation due to calcium entry defect 2

• Immune thrombocytopenia

• Immunodeficiency with hyper IgM type 1

• Immunodeficiency with hyper IgM type 2

• Immunodeficiency with hyper IgM type 3

• Immunodeficiency with hyper IgM type 4

• Immunodeficiency with hyper IgM type 5

• Immunodeficiency with thymoma

• Immunodeficiency without anhidrotic ectodermal dysplasia

• Immunodeficiency, microcephaly with normal intelligence

• Immunodysregulation, polyendocrinopathy and enteropathy X-linked

• Immunoglobulin A deficiency 2

• Immunotactoid glomerulopathy

• Immunotactoid or fibrillary glomerulopathy

• Impairment of oral perception

• Imperforate anus

• Imperforate oropharynx-costo vetebral anomalies

• Inborn amino acid metabolism disorder

• Inborn renal aminoaciduria

• Inclusion body myopathy 2

• Inclusion body myopathy 3

• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

• Inclusion body myositis

• Inclusion conjunctivitis

• Incontinentia pigmenti

• Indolent B cell lymphoma

• Infant epilepsy with migrant focal crisis

• Infantile apnea

• Infantile axonal neuropathy

• Infantile cerebellar retinal degeneration

• Infantile choroidocerebral calcification syndrome

• Infantile convulsions and paroxysmal choreoathetosis, familial

• Infantile digital fibromatosis

• Infantile free sialic acid storage disease

• Infantile histiocytoid cardiomyopathy

• Infantile liver failure syndrome 1

• Infantile liver failure syndrome 2

• Infantile myofibromatosis

• Infantile neuroaxonal dystrophy

• Infantile onset spinocerebellar ataxia

• Infantile Parkinsonism-dystonia

• Infantile recurrent chronic multifocal osteomyolitis

• Infantile scoliosis

• Infantile spasms broad thumbs

• Infantile striato thalamic degeneration

• Infantile-onset ascending hereditary spastic paralysis

• Infection-induced acute encephalopathy 3

• Infectious arthritis

• Infectious myocarditis

• Infective endocarditis

• Infective myositis

• Inflammatory breast cancer

• Inflammatory linear verrucous epidermal nevus

• Inflammatory myofibroblastic tumor

• Infundibulopelvic dysgenesis

• Inherited hypoprothrombinemia

• Iniencephaly

• Insulin autoimmune syndrome

• Insulin-like growth factor 1 resistance to

• Insulin-like growth factor I deficiency

• Insulin-resistance type B

• Insulin-resistant acanthosis nigricans, type A

• Insulinoma

• Intellectual deficit - short stature - hypertelorism

• Intellectual deficit Buenos-Aires type

• Intellectual disability - athetosis - microphthalmia

• Intellectual disability - hypoplastic corpus callosum - preauricular tag

• Intellectual disability-developmental delay-contractures syndrome

• Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

• Intellectual disability-severe speech delay-mild dysmorphism syndrome

• Intellectual disability-spasticity-ectrodactyly syndrome

• Intercellular cholesterol esterification disease

• Interferon gamma, receptor 1, deficiency

• Intermediate congenital nemaline myopathy

• Intermediate severe Salla disease

• Internal carotid agenesis

• Intestinal atresia multiple

• Intestinal lymphangiectasia

• Intestinal pseudo-obstruction

• Intestinal pseudoobstruction neuronal chronic idiopathic X-linked

• Intracranial aneurysms multiple congenital anomaly

• Intracranial arteriovenous malformation

• Intrahepatic cholangiocarcinoma

• Intrahepatic cholestasis of pregnancy

• Intraneural perineurioma

• Intraocular melanoma

• Intrathoracic kidney vertebral fusion

• Intrauterine growth retardation - mandibular malar hypoplasia

• Intrauterine growth retardation with increased mitomycin C sensitivity

• Intrauterine infections

• Intravascular papillary endothelial hyperplasia

• Intravenous leiomyomatosis

• Intrinsic factor deficiency

• Iodine antenatal exposure

• IQSEC2

• IRAK-4 deficiency

• IRF6-Related disorders

• Iridocorneal endothelial syndrome

• Iridogoniodysgenesis and skeletal anomalies

• Iridogoniodysgenesis type 1

• Iridogoniodysgenesis type 2

• Iris hypoplasia and glaucoma

• Iron-refractory iron deficiency anemia

• Irons Bhan syndrome

• IRVAN syndrome

• Isaacs' syndrome

• Ischiadic hypoplasia renal dysfunction immunodeficiency

• Isobutyryl-CoA dehydrogenase deficiency

• Isochromosome Yp

• Isodicentric chromosome 15 syndrome

• Isolated ACTH deficiency

• Isolated anterior cervical hypertrichosis

• Isolated congenital megalocornea

• Isolated ectopia lentis

• Isolated growth hormone deficiency

• Isolated growth hormone deficiency type 1A

• Isolated growth hormone deficiency type 1B

• Isolated growth hormone deficiency type 2

• Isolated growth hormone deficiency type 3

• Isolated levocardia

• Isosporiasis

• Isotretinoin embryopathy like syndrome

• Isovaleric acidemia

• Isthmian coarctation

• ITCH E3 ubiquitin ligase deficiency

• Ivemark syndrome

• IVIC syndrome