List of rare diseases-I

NIH genetic and rare disease info

• NIH info on List of rare diseases-I

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

• NIH info on List of rare diseases-I

List of rare diseases-I is a rare disease.