List of rare diseases-I
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NIH genetic and rare disease info[edit source]
List of rare diseases-I is a rare disease.
- I cell disease
- I(Y)(p10)
- I2S deficiency
- IAHSP
- IBD deficiency
- IBGC childhood onset
- IBM
- IBM2
- IBM3
- IBMPFD
- IBS
- IBSN
- IC- not a rare disease.
- IC/BPS- not a rare disease.
- IC/PBS- not a rare disease.
- ICCA
- ICCA syndrome
- ICD
- ICE syndrome
- ICF syndrome
- Ichthyosiform erythroderma with leukocyte vacuolation
- Ichthyosiform erythroderma, Brocq congenital, nonbullous form
- Ichthyosiform erythroderma, congenital, nonbullous, 1
- Ichthyosiform erythroderma, corneal involvement, deafness
- Ichthyosis acquisita
- Ichthyosis alopecia eclabion ectropion mental retardation
- Ichthyosis bullosa of Siemens
- Ichthyosis cheek eyebrow syndrome
- Ichthyosis congenita
- Ichthyosis congenita biliary atresia
- Ichthyosis congenita IIB
- Ichthyosis congenita III
- Ichthyosis congenita IV
- Ichthyosis congenita, Harlequin fetus type
- Ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma
- Ichthyosis deafness mental retardation skeletal anomalies
- Ichthyosis follicularis atrichia photophobia syndrome
- Ichthyosis hystrix Rheydt type
- Ichthyosis hystrix, Curth Macklin type
- Ichthyosis intellectual deficit dwarfism renal impairment
- Ichthyosis lamellar 1
- Ichthyosis lamellar 2
- Ichthyosis lamellar 3
- Ichthyosis lamellar, autosomal dominant
- Ichthyosis linearis circumflexa
- Ichthyosis prematurity syndrome
- Ichthyosis simplex
- Ichthyosis tapered fingers midline groove up
- Ichthyosis vulgaris
- Ichthyosis with hypotrichosis, autosomal recessive
- Ichthyosis, acquired
- Ichthyosis, bullous type
- Ichthyosis, CHILD syndrome
- Ichthyosis, follicular
- Ichthyosis, hepatosplenomegaly, and cerebellar degeneration
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- Ichthyosis, mental retardation and asymptomatic spasticity
- Ichthyosis, mental retardation, dwarfism and renal impairment
- Ichthyosis, spastic neurologic disorder, and oligophrenia
- Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
- Ichthyosis-sclerosing cholangitis syndrome
- ICL
- ICP
- ICR2B
- ICRD
- ICS
- Icterohemorrhagic fever
- IDD- not a rare disease.
- IDDM- not a rare disease.
- IDDM secretory diarrhea syndrome
- IDDM-MED syndrome
- IDF
- Idic(15)
- Idiopathic achalasia
- Idiopathic achalasia of esophagus
- Idiopathic acute eosinophilic pneumonia
- Idiopathic adolescent scoliosis- not a rare disease.
- Idiopathic alveolar hypoventilation syndrome
- Idiopathic aplastic anemia
- Idiopathic atrophoderma of Pasini and Pierini
- Idiopathic autoimmune hemolytic anemia
- Idiopathic basal ganglia calcification 1
- Idiopathic basal ganglia calcification childhood-onset
- Idiopathic blepharospasm-oromandibular dystonia syndrome
- Idiopathic BOOP
- Idiopathic bronchiolitis obliterans organizing pneumonia
- Idiopathic calciphylaxis
- Idiopathic camptocormia
- Idiopathic camptocormism
- Idiopathic catastrophic epileptic encephalopathy
- Idiopathic CD4 lymphocytopenia
- IDIOPATHIC CD4 LYMPHOPENIA
- Idiopathic CD4 positive T-lymphocytopenia
- Idiopathic chronic eosinophilic pneumonia
- Idiopathic chronic, erosive gastritis
- Idiopathic congenital central alveolar hypoventilation
- Idiopathic congestive splenomegaly
- Idiopathic cyclic edema- not a rare disease.
- Idiopathic deciduous skin
- Idiopathic dilatation of the pulmonary artery
- Idiopathic dilated cardiomyopathy
- Idiopathic dystonia DYT1
- Idiopathic edema- not a rare disease.
- Idiopathic eosinophilic chronic pneumopathy
- Idiopathic erythema nodosum
- Idiopathic facial palsy
- Idiopathic familial premature ovarian failure
- Idiopathic familial right atrial dilatation
- Idiopathic giant-cell myocarditis
- Idiopathic gigantomastia (subtype)
- Idiopathic granulomatous hypophysitis
- Idiopathic granulomatous lobular mastitis
- Idiopathic hydrops fetalis
- Idiopathic hypercalciuria with bilateral macular colobomata
- Idiopathic hypersomnia
- Idiopathic hypersomnolence
- Idiopathic hypertrophic cranial pachymeningitis
- Idiopathic hypertrophic craniospinal pachymeningitis
- Idiopathic hypertrophic osteoarthropathy
- Idiopathic hypertrophic pachymeningitis
- Idiopathic hypertrophic spinal pachymeningitis
- Idiopathic immunoglobulin deficiency
- Idiopathic infantile arterial calcification
- Idiopathic infection caused by BCG or atypical mycobacteria
- Idiopathic inflammatory myopathy
- Idiopathic inflammatory myopathy, familial
- Idiopathic inflammatory myositis
- Idiopathic interstitial pneumonitis - from asbestos exposure
- Idiopathic intracranial hypertension
- Idiopathic juvenile osteoporosis
- Idiopathic juxtafoveal retinal telangiectasia- not a rare disease.
- Idiopathic juxtafoveal retinal telangiectasis- not a rare disease.
- Idiopathic juxtafoveal telangiectasis- not a rare disease.
- Idiopathic localized lipodystrophy (subtype)
- Idiopathic MacTel- not a rare disease.
- Idiopathic macular telangiectasia- not a rare disease.
- Idiopathic mediastinal fibrosis
- Idiopathic membranous nephropathy
- Idiopathic minimal change nephrotic syndrome
- Idiopathic multicentric Castleman's disease
- Idiopathic multicentric osteolysis with or without nephropathy
- Idiopathic multicentric osteolysis with or without nephropathy
- Idiopathic myelofibrosis
- Idiopathic myeloid splenomegaly
- Idiopathic neonatal Hemochromatosis
- Idiopathic neuralgic amyotrophy
- Idiopathic neutropenia- not a rare disease.
- Idiopathic obliterative vasculopathy
- Idiopathic orthostatic edema- not a rare disease.
- Idiopathic orthostatic hypotension (a symptom)
- Idiopathic perniosis
- Idiopathic pleuroparenchymal fibroelastosis
- Idiopathic pleuropulmonary fibroelastosis
- Idiopathic portal hypertension
- Idiopathic progressive lumbar kyphosis
- Idiopathic pulmonary arterial hypertension
- Idiopathic pulmonary fibrosis
- Idiopathic pulmonary hemosiderosis
- Idiopathic pulmonary hypertension
- Idiopathic pure red cell aplasia
- Idiopathic recurrent vitreal hemorrhage
- Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
- Idiopathic retinal-aneurysms-neuroretinitis syndrome
- Idiopathic retroperitoneal fibrosis
- Idiopathic sclerosing mesenteritis
- Idiopathic sexual precocity
- Idiopathic spinal cord herniation
- Idiopathic subglottic stenosis
- Idiopathic subglottic tracheal stenosis
- Idiopathic thrombocythemia
- Idiopathic thrombocytopenic purpura
- Idiopathic thrombotic thrombocytopenic purpura
- Idiopathic torsion dystonia
- Idiopathic trachyonychia
- Idiopathic tropical malabsorption syndrome
- Idiopathic ventricular fibrillation
- IDMDC
- IDUA deficiency
- Iduronate 2-sulfatase deficiency
- IED
- IFAP syndrome
- IFD
- IFNGR1 deficiency
- IgA nephropathy
- IgA, selective deficiency of- not a rare disease.
- IgA, selective deficiency of, TACI related
- IGAD1- not a rare disease.
- IGAD2
- IGAN
- IGDA
- IGDA syndrome
- IGF1 deficiency
- IGF-1 resistance
- IgG deficiency- not a rare disease.
- IgG heavy chain disease
- IgG subclass deficiency- not a rare disease.
- IgG4-associated disease
- IgG4-positive multiorgan lymphoproliferative syndrome
- IgG4-related autoimmune disease
- IgG4-related dacryoadenitis and sialadenitis
- IgG4-related disease
- IgG4-related mediastinitis
- IgG4-related retroperitoneal fibrosis
- IgG4-related sclerosing disease
- IgG4-related systemic disease
- IgG4-related systemic sclerosing disease
- IgG4-syndrome
- IGHD 1B
- IGHD IA
- IGHD II
- IGHD III
- IGHD1A
- IGHD1B
- IGHD2
- IGHD3
- IGS
- IHCM
- IHG
- IHIS
- IIAC
- IIAE3
- Iida Kannari syndrome
- IIH
- IIM
- IJFT- not a rare disease.
- IJO
- IJT- not a rare disease.
- IL10-related early-onset IBD
- IL10-related early-onset inflammatory bowel disease
- IL-12Râ1 deficiency
- IL12RB1 deficiency
- ILD- not a rare disease.
- Ileitis- not a rare disease.
- Iliac vein compression syndrome
- Iliocaval compression syndrome
- ILLIG type growth hormone deficiency
- Illum syndrome
- ILS
- ILVASC
- ILVEN
- IMAGe syndrome
- IMD 2
- IMD13
- Imerslund-Grasbeck syndrome
- Imidodipeptidase deficiency
- Iminoglycinuria
- IMM
- Immigration delay disease
- Immotile cilia syndrome
- Immotile cilia syndrome due to excessively long cilia
- Immotile cilia syndrome, due to defective radial spokes
- Immotile cilia syndrome, Kartagener type
- Immune defect due to absence of thymus
- Immune deficiency, familial variable
- Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16
- 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 dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- Immune myopathy with myocyte necrosis
- Immune thrombocytopenia
- Immune-mediated necrotizing myopathy
- Immunoblastic lymphadenopathy
- IMMUNODEFICIENCY 13
- Immunodeficiency 2
- Immunodeficiency 23
- Immunodeficiency 31C; IMD31C
- Immunodeficiency 33
- Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- Immunodeficiency syndrome, variable
- Immunodeficiency with ataxia telangiectasia
- Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
- 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, isolated
- Immunodeficiency, pure
- Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia
- Immunodeficiency-centromeric instability-facial anomalies syndrome
- Immunodeficiency-short limb dwarfism syndrome
- Immunodysregulation, polyendocrinopathy and enteropathy X-linked
- Immunoglobulin A deficiency 1- not a rare disease.
- Immunoglobulin A deficiency 2
- Immunoglobulin A vasculitis
- Immunoglobulin A, selective deficiency of- not a rare disease.
- Immunoglobulin A, selective deficiency of, TACI related
- Immunoglobulin Deficiency
- Immunoglobulin deficiency, late-onset
- Immunoglobulin G deficiency- not a rare disease.
- Immunoglobulin G4-related sclerosing disease
- Immunoglobulin-A vasculitis
- Immuno-hemolytic anemia
- Immunoosseous dysplasia, Schimke type
- Immunotactoid glomerulonephritis
- Immunotactoid glomerulopathy
- Immunotactoid or fibrillary glomerulonephritis
- Immunotactoid or fibrillary glomerulopathy
- Immunotactoid or fibrillary glomerulopathy
- IMNM
- Impaired polysaccharide responsiveness
- Impairment of oral perception
- Imperforate anus
- Imperforate anus with hand, foot and ear anomalies
- Imperforate anus-hand, foot and ear anomalies syndrome
- Imperforate oropharynx-costo vetebral anomalies
- Impossible syndrome
- INAD
- INAD1
- Inappropriate ADH syndrome- not a rare disease.
- Inborn amino acid metabolism disorder
- Inborn error of urea synthesis, arginino succinic type
- Inborn renal aminoaciduria
- Incisors fused
- Inclusion body myopathy 2
- Inclusion body myopathy 3
- Inclusion body myopathy autosomal dominant
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Inclusion body myopathy, autosomal recessive
- Inclusion body myopathy, quadriceps-sparing
- Inclusion body myositis
- Inclusion cell disease
- Inclusion conjunctivitis
- Incomplete achromatopsia X-linked
- Incontinentia pigmenti
- Incontinentia pigmenti achromians
- Incontinentia pigmenti type 1 (formerly)
- Incontinentia pigmenti type 2 (formerly)
- Incontinentia pigmenti, familial male-lethal type
- Increased-permeability pulmonary edema
- Index finger anomaly with Pierre Robin syndrome
- INDEX FINGER POLYDACTYLY
- Indolent B cell lymphoma
- Indomethacin embryofetopathy
- Infant botulism (subtype)
- Infant epilepsy with migrant focal crisis
- Infantile apnea
- Infantile axonal neuropathy
- Infantile bilateral striatal necrosis
- Infantile cerebellar retinal degeneration
- Infantile cerebellar-retinal degeneration
- Infantile cerebellooptic atrophy
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
- Infantile choroidocerebral calcification syndrome
- Infantile convulsions and paroxysmal choreoathetosis, familial
- Infantile cortical hyperostosis
- Infantile digital fibromatosis
- Infantile form of phytanic acid storage disease
- Infantile free sialic acid storage disease
- Infantile fucosidosis
- Infantile histiocytoid cardiomyopathy
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
- Infantile liver failure syndrome 1
- Infantile liver failure syndrome 2
- Infantile myofibromatosis
- Infantile neuroaxonal dystrophy
- Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy
- Infantile Onset Multisystem Inflammatory Disease
- Infantile onset spinocerebellar ataxia
- Infantile optic atrophy with chorea and spastic paraplegia
- Infantile paralysis
- Infantile Parkinsonism-dystonia
- Infantile poliodystrophy
- Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms
- Infantile Refsum disease
- Infantile respiratory distress syndrome
- Infantile scoliosis
- Infantile sialic acid storage disorder
- Infantile spasm
- Infantile spasms broad thumbs
- Infantile striato thalamic degeneration
- Infantile subacute necrotizing encephalopathy
- Infantile systemic hyalinosis (former subtype)
- Infantile thoracic dystrophy
- Infantile xanthomatous cardiomyopathy
- Infantile-onset ascending hereditary spastic paralysis
- Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness
- Infarct of the spleen
- Infection due to cat liver fluke
- Infection due to Opisthorchis (felineus)(viverrini)
- Infection with trichinella
- Infection-induced acute encephalopathy 3
- Infectious arthritis
- Infectious myocarditis
- Infective endocarditis
- Infective myositis
- INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA
- Infiltrative brainstem glioma
- Inflammation of the whole uveal tract
- Inflammatory breast cancer
- Inflammatory fibrosarcoma
- Inflammatory linear verrucous epidermal naevus
- Inflammatory linear verrucous epidermal nevus
- Inflammatory linear verrucous epidermal nevus
- Inflammatory myofibroblastic tumor
- Inflammatory myopathy
- Inflammatory occlusive peripheral vascular disease
- Inflammatory Rheumatism
- Infundibulopelvic dysgenesis
- Inhalation of barytes
- Inherited antithrombin deficiency
- Inherited antithrombin deficiency classic type
- Inherited antithrombin deficiency type I
- Inherited antithrombin deficiency type II
- Inherited bone marrow failure syndromes- not a rare disease.
- Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance
- Inherited hypoprothrombinemia
- Inherited Lipemic Splenomegaly
- Inherited prothrombin deficiency
- Inherited reactive perforating collagenosis
- Inherited systemic hyalinosis
- Iniencephaly
- INSENSITIVITY TO PAIN, CONGENITAL
- Insensitivity to pain, congenital, with anhidrosis
- Insley-Astley syndrome
- Insomnia familial fatal
- INSR-related severe syndromic insulin resistance
- Instituto Venezolano de Investigaciones Cientificas syndrome
- Insulin autoimmune hypoglycemia
- Insulin autoimmune syndrome
- Insulin-dependent diabetes mellitus- not a rare disease.
- Insulin-like growth factor 1 resistance to
- Insulin-like growth factor I deficiency
- Insulinoma
- Insulin-resistance type B
- Insulin-resistant acanthosis nigricans, type A
- Insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation (formerly)
- Intelectual disability-dystonic movements-ataxia-seizures syndrome
- Intellectual deficiency-epilepsy-endocrine disorders syndrome
- Intellectual deficit - short stature - hypertelorism
- Intellectual deficit Buenos-Aires type
- Intellectual deficit X-linked Siderius type
- Intellectual deficit, X-linked - psychosis - macroorchidism
- Intellectual disability - athetosis - microphthalmia
- Intellectual disability - hypoplastic corpus callosum - preauricular tag
- Intellectual disability and distinctive facial features with or without cardiac defects
- Intellectual disability and microcephaly with pontine and cerebellar hypoplasia
- Intellectual disability and muscular atrophy
- Intellectual disability microcephaly epilepsy and ataxia syndrome
- Intellectual disability with absent fifth fingernail and terminal phalanx
- Intellectual disability with language impairment and with or without autistic features
- Intellectual disability X-linked Abidi type
- Intellectual disability x-linked syndromic Christianson type
- Intellectual disability, autosomal dominant 19
- Intellectual disability, autosomal dominant 6, with or without seizures
- Intellectual disability, autosomal recessive 18
- Intellectual disability, deafness, skeletal abnormalities, coarse face with full lips
- Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
- Intellectual disability, Mietens-Weber type
- Intellectual disability, motor dysfunction, and joint contractures
- Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
- Intellectual disability, X-linked 3
- Intellectual disability, X-linked with Growth Delay, Deafness, Microgenitalism
- Intellectual disability, X-linked, syndromic 1
- Intellectual disability, X-linked, syndromic 15
- Intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- Intellectual disability, X-linked, with dystonic movements, ataxia, and seizures
- Intellectual disability, x-linked, with growth retardation, deafness, and microgenitalism
- Intellectual disability-athetosis-microphthalmia syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- Intellectual disability-developmental delay-contractures syndrome
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- Intellectual disability-epilepsy-bulbous nose syndrome
- Intellectual disability-epilepsy-endocrine disorders syndrome
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Intellectual disability-polydactyly-uncombable hair syndrome
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Intellectual disability-spasticity-ectrodactyly syndrome
- Intellectual disability-truncal obesity syndrome
- Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip
- Interferon gamma, receptor 1, deficiency
- Interleukin 1 receptor antagonist deficiency
- Interleukin receptor-associated kinase deficiency
- Intermediate congenital nemaline myopathy
- Intermediate congenital NM
- Intermediate nemaline myopathy
- Intermediate Salla disease
- Intermediate severe Salla disease
- Intermediate uveitis
- Intermittent cutaneous lupus
- Internal carotid agenesis
- Internal carotid artery agenesis
- Interstitial 16p13.3 duplication
- Interstitial cystitis- not a rare disease.
- Interstitial cystitis/bladder pain syndrome- not a rare disease.
- Interstitial cystitis/painful bladder syndrome- not a rare disease.
- interstitial deletion 3q23-25
- Interstitial lung disease- not a rare disease.
- Interstitial megalocytic nephritis
- Intervertebral disc degeneration- not a rare disease.
- Intervertebral disc disease- not a rare disease.
- Intestinal amebiasis
- Intestinal atresia multiple
- Intestinal atresia type IIIb
- Intestinal epithelial dysplasia
- Intestinal helminthiasis
- Intestinal hypoganglionosis
- Intestinal hypomagnesemia with secondary hypocalcemia
- Intestinal lipodystrophy
- Intestinal lipophagic granulomatosis
- Intestinal lymphagiectasia lymphedema intellectual deficit syndrome
- Intestinal lymphangiectasia
- Intestinal malrotation facial anomalies familial type
- Intestinal polyposis, osteomas, sebaceous cysts
- Intestinal pseudoobstruction
- Intestinal pseudo-obstruction
- Intestinal pseudoobstruction due to neuronal disease
- Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
- Intestinal pseudoobstruction with external ophthalmoplegia
- Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth
- Intestinovesical fistulae
- Intraadrenal Paraganglioma
- Intracardiac myxoma
- Intracavitary tumors
- Intracortical fibrous dysplasia
- Intracranial arachnoid cysts
- Intracranial arteriovenous malformation
- Intracranial AVM
- Intracranial epidermoid cyst
- Intracranial germinoma
- Intracranial hypertension, idiopathic
- Intractable diarrhea of infancy
- Intractable hiccups
- Intractable singultus
- Intrahepatic cholangiocarcinoma
- Intrahepatic cholestasis of pregnancy
- Intramural diverticulosis of the gallbladder
- Intraneural perineurioma
- Intraocular melanoma
- Intrauterine growth retardation with increased mitomycin C sensitivity
- Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci
- Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
- Intrauterine synechiae
- Intravascular papillary endothelial hyperplasia
- Intravenous leiomyomatosis
- Intrinsic factor deficiency
- Intrinsic factor, congenital deficiency of
- Inv dup(15)
- INV DUP(22)(Q11)
- Invasive Candidiasis
- Invdupdel(8p)
- Inversion 9- not a rare disease.
- Inverted 8p duplication/deletion syndrome
- Inverted duplication 15
- Inverted smile and occult neuropathic bladder
- Involuntary emotional expression disorder- not a rare disease.
- Iodine antenatal exposure
- IOMID
- IOSCA
- IP
- IP2 (formerly)
- IPA
- IPEX syndrome
- IPOX
- IPPFE
- IPS
- IQSEC2
- IQSEC2-related epilepsy
- IQSEC2-related intellectual disability
- IRAK4 deficiency
- IRAK-4 deficiency
- IRAN, type A
- Iraqi Jewish optic atrophy plus
- IRD
- IRDS
- IRF2BPL-related disorders
- IRF6-Related disorders
- IRID1
- IRID2
- IRIDA
- IRIDA syndrome
- Iridocorneal endothelial syndrome
- Iridocyclitis
- Iridogoniodysgenesis and skeletal anomalies
- Iridogoniodysgenesis anomaly, Autosomal dominant
- Iridogoniodysgenesis type 1
- Iridogoniodysgenesis type 2
- Iridogoniodysgenesis with somatic anomalies
- Iris coloboma with ptosis hypertelorism and mental retardation
- Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly
- Iris hypoplasia and glaucoma
- Iron miners lung
- Iron overload disease juvenile
- Iron overload in Africa
- Iron-handling disorder, hereditary
- Iron-refractory iron deficiency anemia
- Irons Bhan syndrome
- IRVAN syndrome
- IS
- Isaac syndrome
- Isaac-Mertens syndrome
- Isaacs' syndrome
- Isaac's-Merten's syndrome
- ISCH
- Ischemic optic neuropathy
- ischiocoxopodopatellar syndrome
- Ischiopatellar dysplasia
- Islet cell tumor
- Isobutyryl-CoA dehydrogenase deficiency
- Isochromosome 18p
- Isochromosome 21
- Isochromosome Yp
- Isodicentric chromosome 15 syndrome
- Isolated 3-methylcrotonyl-CoA carboxylase deficiency
- Isolated ACTH deficiency
- Isolated Adrenocorticotropic hormone deficiency
- Isolated anophthalmia - microphthalmia
- Isolated anophthalmia-microphthalmia syndrome
- Isolated anterior cervical hypertrichosis
- Isolated atresia of bile ducts
- Isolated autosomal dominant hypomagnesemia
- Isolated autosomal dominant polycystic liver disease
- Isolated Biliary atresia
- Isolated cloverleaf skull syndrome
- Isolated complex I deficiency
- Isolated congenital adermatoglyphia
- Isolated congenital anonychia
- Isolated congenital anosmia
- Isolated congenital controlateral synkinesia
- Isolated congenital megalocornea
- Isolated congenital mirror movements
- Isolated congenital nail dysplasia
- Isolated corpus callosum agenesis
- Isolated diffuse mesangial sclerosis
- Isolated ectopia lentis
- Isolated follicle-stimulating hormone (FSH) deficiency
- Isolated FSH deficiency
- 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 growth hormone deficiency type IA
- Isolated growth hormone deficiency type II
- Isolated hyperostosis of the calvarium
- Isolated hypoplasia of the right ventricle
- Isolated levocardia
- Isolated levocardia with situs inversus
- Isolated median cleft face syndrome
- Isolated median cleft syndrome
- Isolated microphthalmia-anophthalmia-coloboma
- Isolated mitochondrial respiratory chain complex I deficiency
- Isolated NADH-coenzyme Q reductase deficiency
- Isolated NADH-CoQ reductase deficiency
- Isolated NADH-ubiquinone reductase deficiency
- Isolated polycystic liver disease
- Isolated pure microphthalmia
- Isolated renal magnesium wasting
- Isolated right ventricular hypoplasia
- Isolated spina bifida
- Isolated UAPA
- Isolated unilateral absence of a pulmonary artery
- Isolated vitamin E deficiency
- Isosporiasis
- Isotretinoin (RoAccutane) embryopathy
- Isotretinoin embryopathy
- Isotretinoin embryopathy like syndrome
- Isotretinoin fetal effects of
- Isotretinoin teratogen syndrome
- Isovaleric acid CoA dehydrogenase deficiency
- Isovaleric acidemia
- Isovaleryl CoA carboxylase deficiency
- ISSD
- ITCH E3 ubiquitin ligase deficiency
- ITM2B amyloidosis
- ITO
- Ito hypomelanosis
- ITP
- IVA
- IVD deficiency
- Ivemark syndrome
- IVF
- IVIC syndrome
- Iwashita syndrome
NIH genetic and rare disease info[edit source]
List of rare diseases-I is a rare disease.
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