- Immunotactoid or fibrillary glomerulopathy
- IMNM - See Necrotizing autoimmune myopathy
- Impaired polysaccharide responsiveness - See Specific antibody deficiency
- Impairment of oral perception
- Imperforate anus
- Imperforate anus with hand, foot and ear anomalies - See Townes-Brocks syndrome
- Imperforate anus-hand, foot and ear anomalies syndrome - See Townes-Brocks syndrome
- Imperforate oropharynx-costo vetebral anomalies
- Impossible syndrome - See Chondrodysplasia situs inversus imperforate anus polydactyly
- Impuberism and anovulation due to resistance to LH - See Resistance to LH (luteinizing hormone)
- INAD - See Infantile neuroaxonal dystrophy
- INAD1 - See Infantile neuroaxonal dystrophy
- Inappropriate ADH syndrome - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
- Inborn amino acid metabolism disorder
- Inborn error of urea synthesis, arginino succinic type - See Argininosuccinic aciduria
- Inborn renal aminoaciduria
- Incisors fused - See Single upper central incisor
- Inclusion body myopathy 2
- Inclusion body myopathy 3
- Inclusion body myopathy autosomal dominant - See Inclusion body myopathy 3
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - See Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- Inclusion body myopathy, autosomal recessive - See Inclusion body myopathy 2
- Inclusion body myopathy, quadriceps-sparing - See Inclusion body myopathy 2
- Inclusion body myositis
- Inclusion cell disease - See I cell disease
- Inclusion conjunctivitis
- Incomplete achromatopsia X-linked - See Blue cone monochromatism
- Incontinentia pigmenti
- Incontinentia pigmenti achromians - See Hypomelanosis of Ito
- Incontinentia pigmenti type 1 (formerly) - See Hypomelanosis of Ito
- Incontinentia pigmenti type 2 (formerly) - See Incontinentia pigmenti
- Incontinentia pigmenti, familial male-lethal type - See Incontinentia pigmenti
- Increased-permeability pulmonary edema - See Acute respiratory distress syndrome
- Index finger anomaly with Pierre Robin syndrome - See Catel Manzke syndrome
- INDEX FINGER POLYDACTYLY - See Preaxial polydactyly type 3
- Indolent B cell lymphoma
- Indomethacin embryofetopathy - See Fetal indomethacin syndrome
- Infant botulism (subtype) - See Botulism
- Infant epilepsy with migrant focal crisis
- Infantile apnea
- Infantile axonal neuropathy
- Infantile bilateral striatal necrosis - See Striatonigral degeneration infantile
- Infantile cerebellar retinal degeneration
- Infantile cerebellar-retinal degeneration - See Infantile cerebellar retinal degeneration
- Infantile cerebellooptic atrophy - See PEHO syndrome
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - See Postnatal progressive microcephaly, seizures, and brain atrophy
- Infantile choroidocerebral calcification syndrome
- Infantile convulsions and paroxysmal choreoathetosis, familial
- Infantile cortical hyperostosis - See Caffey disease
- Infantile digital fibromatosis
- Infantile form of phytanic acid storage disease - See Refsum disease, infantile form
- Infantile free sialic acid storage disease - See Free sialic acid storage disease
- Infantile fucosidosis - See Fucosidosis type 1
- Infantile histiocytoid cardiomyopathy
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - See Combined oxidative phosphorylation deficiency 16
- Infantile liver failure syndrome 1
- Infantile liver failure syndrome 2
- Infantile myofibromatosis
- Infantile neuroaxonal dystrophy
- Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy - See Infantile neuroaxonal dystrophy
- Infantile Onset Multisystem Inflammatory Disease - See Neonatal Onset Multisystem Inflammatory disease
- Infantile onset spinocerebellar ataxia
- Infantile optic atrophy with chorea and spastic paraplegia - See OPA3 defect
- Infantile paralysis - See Poliomyelitis
- Infantile Parkinsonism-dystonia - See Dopamine transporter deficiency syndrome
- Infantile poliodystrophy - See Alpers syndrome
- Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms - See Spinal atrophy ophthalmoplegia pyramidal syndrome
- Infantile recurrent chronic multifocal osteomyolitis
- Infantile Refsum disease - See Refsum disease, infantile form
- Infantile respiratory distress syndrome - See Respiratory distress syndrome, infant
- Infantile scoliosis
- Infantile sialic acid storage disorder - See Free sialic acid storage disease
- Infantile spasm - See West syndrome
- Infantile spasms broad thumbs
- Infantile striato thalamic degeneration
- Infantile subacute necrotizing encephalopathy - See Leigh syndrome
- Infantile systemic hyalinosis (former subtype) - See Hyaline fibromatosis syndrome
- Infantile thoracic dystrophy - See Jeune syndrome
- Infantile xanthomatous cardiomyopathy - See Infantile histiocytoid cardiomyopathy
- Infantile-onset ascending hereditary spastic paralysis
- Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness - See GM3 synthase deficiency
- Infarct of the spleen - See Splenic infarcts
- Infection due to cat liver fluke - See Opisthorchiasis
- Infection due to Opisthorchis (felineus)(viverrini) - See Opisthorchiasis
- Infection with trichinella - See Trichinosis
- Infection-induced acute encephalopathy 3
- Infectious arthritis
- Infectious myocarditis
- Infective endocarditis
- Infective myositis
- INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA - See Macrozoospermia
- Infiltrative brainstem glioma - See Diffuse intrinsic pontine glioma
- Inflammation of the whole uveal tract - See Panuveitis
- Inflammatory breast cancer
- Inflammatory fibrosarcoma - See Inflammatory myofibroblastic tumor
- Inflammatory linear verrucous epidermal naevus - See Inflammatory linear verrucous epidermal nevus
- Inflammatory linear verrucous epidermal nevus - See Inflammatory linear verrucous epidermal nevus
- Inflammatory linear verrucous epidermal nevus
- Inflammatory myofibroblastic tumor
- Inflammatory myopathy - See Inclusion body myositis
- Inflammatory occlusive peripheral vascular disease - See Buerger disease
- Inflammatory Rheumatism - See Rheumatic Fever
- Infundibulopelvic dysgenesis
- Inhalation of barytes - See Baritosis
- Inherited antithrombin deficiency - See Hereditary antithrombin deficiency
- Inherited antithrombin deficiency classic type - See Hereditary antithrombin deficiency type I
- Inherited antithrombin deficiency type I - See Hereditary antithrombin deficiency type I
- Inherited antithrombin deficiency type II - See Hereditary antithrombin deficiency type 2
- 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 - See Rasmussen Johnsen Thomsen syndrome
- Inherited hypoprothrombinemia - See Prothrombin deficiency
- Inherited Lipemic Splenomegaly - See Sea-Blue histiocytosis
- Inherited prothrombin deficiency - See Prothrombin deficiency
- Inherited reactive perforating collagenosis - See Familial reactive perforating collagenosis
- Inherited systemic hyalinosis - See Hyaline fibromatosis syndrome
- Iniencephaly
- INSENSITIVITY TO PAIN, CONGENITAL - See Hereditary sensory and autonomic neuropathy type V
- Insensitivity to pain, congenital, with anhidrosis - See Congenital insensitivity to pain with anhidrosis
- Insley-Astley syndrome - See OSMED Syndrome
- Insomnia familial fatal - See Fatal familial insomnia
- INSR-related severe syndromic insulin resistance - See Rabson-Mendenhall syndrome
- Instituto Venezolano de Investigaciones Cientificas syndrome - See IVIC syndrome
- Insulin autoimmune hypoglycemia - See Insulin autoimmune syndrome
- Insulin autoimmune syndrome
- Insulin-dependent diabetes mellitus - See Diabetes mellitus type 1 - 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) - See Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- Intelectual disability-dystonic movements-ataxia-seizures syndrome - See Partington syndrome
- Intellectual deficiency-epilepsy-endocrine disorders syndrome - See Borjeson-Forssman-Lehmann syndrome
- Intellectual deficit - short stature - hypertelorism
- Intellectual deficit Buenos-Aires type
- Intellectual deficit X-linked Siderius type - See X-linked intellectual disability, Siderius type
- Intellectual deficit, X-linked - psychosis - macroorchidism - See PPM-X syndrome
- Intellectual disability - athetosis - microphthalmia
- Intellectual disability - hypoplastic corpus callosum - preauricular tag
- Intellectual disability and distinctive facial features with or without cardiac defects - See MED13L haploinsufficiency syndrome
- Intellectual disability and microcephaly with pontine and cerebellar hypoplasia - See X-linked intellectual disability, Najm type
- Intellectual disability and muscular atrophy - See Allan-Herndon-Dudley syndrome
- Intellectual disability microcephaly epilepsy and ataxia syndrome - See Christianson syndrome
- Intellectual disability with absent fifth fingernail and terminal phalanx - See Coffin-Siris syndrome
- Intellectual disability with language impairment and with or without autistic features - See Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Intellectual disability X-linked Abidi type - See X-linked intellectual disability, Abidi type
- Intellectual disability x-linked syndromic Christianson type - See Christianson syndrome
- Intellectual disability, autosomal dominant 19 - See Severe intellectual disability-progressive spastic diplegia syndrome
- Intellectual disability, autosomal dominant 6, with or without seizures - See GRIN2B related syndrome
- Intellectual disability, autosomal recessive 18 - See MED23
- Intellectual disability, deafness, skeletal abnormalities, coarse face with full lips - See Fountain syndrome
- Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
- Intellectual disability, Mietens-Weber type - See Mietens-Weber syndrome
- Intellectual disability, motor dysfunction, and joint contractures - See Spastic paraplegia 18
- Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea - SeePitt-Hopkins syndrome
- Intellectual disability, X-linked 3 - See Methylmalonic acidemia and homocysteinemia type cblX
- Intellectual disability, X-linked with Growth Delay, Deafness, Microgenitalism - See Juberg Marsidi syndrome
- Intellectual disability, X-linked, syndromic 1 - See Partington syndrome
- Intellectual disability, X-linked, syndromic 15 - See Cabezas syndrome
- Intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance - See OPHN1 syndrome
- Intellectual disability, X-linked, with dystonic movements, ataxia, and seizures - See Partington syndrome
- Intellectual disability, x-linked, with growth retardation, deafness, and microgenitalism - See Juberg Marsidi syndrome
- Intellectual disability-athetosis-microphthalmia syndrome - See Intellectual disability - athetosis - microphthalmia
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - See Primrose syndrome
- Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome - See PACS1-related syndrome
- Intellectual disability-developmental delay-contractures syndrome
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- Intellectual disability-epilepsy-bulbous nose syndrome - See Hernández-Aguirre Negrete syndrome
- Intellectual disability-epilepsy-endocrine disorders syndrome - See Borjeson-Forssman-Lehmann syndrome
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - See Intellectual disability - hypoplastic corpus callosum - preauricular tag
- Intellectual disability-overweight syndrome caused by PHIP haploinsufficiency - See PHIP-Related disorder
- Intellectual disability-polydactyly-uncombable hair syndrome - See Kozlowski-Krajewska syndrome
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Intellectual disability-spasticity-ectrodactyly syndrome
- Intellectual disability-truncal obesity syndrome - See MAN1B1-CDG
- Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip - See Garret Tripp syndrome
- Intercellular cholesterol esterification disease
- Interferon gamma, receptor 1, deficiency
- Interleukin 1 receptor antagonist deficiency - See Deficiency of interleukin-1 receptor antagonist
- Interleukin receptor-associated kinase deficiency - See IRAK-4 deficiency
- Intermediate congenital nemaline myopathy
- Intermediate congenital NM - See Intermediate congenital nemaline myopathy
- Intermediate nemaline myopathy - See Intermediate congenital nemaline myopathy
- Intermediate Salla disease - See Intermediate severe Salla disease
- Intermediate severe Salla disease
- Intermediate uveitis - See Pars planitis
- Intermittent cutaneous lupus - See Lupus erythematosus tumidus
- Internal carotid agenesis
- Internal carotid artery agenesis - See Internal carotid agenesis
- Interstitial 16p13.3 duplication - See Chromosome 16p13.3 duplication
- Interstitial cystitis - not a rare disease
- Interstitial cystitis/bladder pain syndrome - See Interstitial cystitis - not a rare disease
- Interstitial cystitis/painful bladder syndrome - See Interstitial cystitis - not a rare disease
- Interstitial lung disease - not a rare disease
- Interstitial megalocytic nephritis - See Megalocytic interstitial nephritis
- Intervertebral disc degeneration - See Intervertebral disc disease - not a rare disease
- Intervertebral disc disease - not a rare disease
- Intestinal amebiasis - See Amebiasis
- Intestinal atresia multiple
- Intestinal atresia type IIIb - See Jejunal atresia
- Intestinal atresia type IIIb - See Atresia of small intestine
- Intestinal epithelial dysplasia - See Tufting enteropathy
- Intestinal helminthiasis - See Helminthiasis
- Intestinal hypoganglionosis - See Hypoganglionosis
- Intestinal hypomagnesemia with secondary hypocalcemia - See Primary hypomagnesemia with secondary hypocalcemia
- Intestinal lipodystrophy - See Whipple disease
- Intestinal lipophagic granulomatosis - See Whipple disease
- Intestinal lymphagiectasia lymphedema intellectual deficit syndrome - See Hennekam syndrome
- Intestinal lymphangiectasia
- Intestinal malrotation facial anomalies familial type - See Stalker Chitayat syndrome
- Intestinal polyposis, osteomas, sebaceous cysts - See Gardner syndrome
- Intestinal pseudoobstruction - See Intestinal pseudo-obstruction
- Intestinal pseudo-obstruction
- Intestinal pseudoobstruction due to neuronal disease - See Visceral neuropathy familial
- Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
- Intestinal pseudoobstruction with external ophthalmoplegia - See Familial visceral myopathy with external ophthalmoplegia
- Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth - See Natal teeth, intestinal pseudoobstruction and patent ductus
- Intestinovesical fistulae - See Enterovesical fistula
- Intraadrenal Paraganglioma - See Pheochromocytoma
- Intracardiac myxoma - See Atrial myxoma, familial
- Intracavitary tumors - See Heart tumor
- Intracortical fibrous dysplasia - See Osteofibrous dysplasia
- Intracranial aneurysms multiple congenital anomaly
- Intracranial arachnoid cysts - See Arachnoid cysts
- Intracranial arteriovenous malformation
- Intracranial AVM - See Intracranial arteriovenous malformation
- Intracranial epidermoid cyst - See Epidermoid brain cyst
- Intracranial germinoma - See Central nervous system germinoma
- Intracranial hypertension, idiopathic - See Idiopathic intracranial hypertension
- Intractable diarrhea of infancy - See Microvillus inclusion disease
- Intractable hiccups - See Chronic hiccups
- Intractable singultus - See Chronic hiccups
- Intrahepatic cholangiocarcinoma
- Intrahepatic cholestasis of pregnancy
- Intramural diverticulosis of the gallbladder - See Rokitansky-Aschoff sinuses of the gallbladder
- Intraneural perineurioma
- Intraocular melanoma
- Intrathoracic kidney vertebral fusion
- Intrauterine growth retardation - mandibular malar hypoplasia
- 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 - See Dubowitz syndrome
- Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome - SeeIMAGe syndrome
- Intrauterine infections
- Intrauterine synechiae - See Asherman's syndrome
- Intravascular papillary endothelial hyperplasia
- Intravenous leiomyomatosis
- Intrinsic factor deficiency
- Intrinsic factor, congenital deficiency of - See Intrinsic factor deficiency
- Inv dup(15) - See Isodicentric chromosome 15 syndrome
- INV DUP(22)(Q11) - See Cat eye syndrome
- Invasive Candidiasis - See Systemic candidiasis
- Invdupdel(8p) - See 8p inverted duplication/deletion syndrome
- Inversion 9 - See Chromosome 9 inversion - not a rare disease
- Inverted 8p duplication/deletion syndrome - See 8p inverted duplication/deletion syndrome
- Inverted duplication 15 - See Isodicentric chromosome 15 syndrome
- Inverted smile and occult neuropathic bladder - See Ochoa syndrome
- Involuntary emotional expression disorder - See Pseudobulbar affect - not a rare disease
- Iodine antenatal exposure
- IOMID - See Neonatal Onset Multisystem Inflammatory disease
- IOSCA - See Infantile onset spinocerebellar ataxia
- IP - See Incontinentia pigmenti
- IP2 (formerly) - See Incontinentia pigmenti
- IPA - See Hypomelanosis of Ito
- IPEX syndrome - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
- IPOX - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
- IPPFE - See Pleuroparenchymal fibroelastosis
- IPS - See Ichthyosis prematurity syndrome
- IQSEC2
- IQSEC2-related epilepsy - See IQSEC2
- IQSEC2-related intellectual disability - See IQSEC2
- IRAK4 deficiency - See IRAK-4 deficiency
- IRAK-4 deficiency
- IRAN, type A - See Insulin-resistant acanthosis nigricans, type A
- Iraqi Jewish optic atrophy plus - See OPA3 defect
- IRD - See Refsum disease, infantile form
- IRDS - See Respiratory distress syndrome, infant
- IRF2BPL-related disorders
- IRF6-Related disorders
- IRID1 - See Iridogoniodysgenesis type 1
- IRID2 - See Iridogoniodysgenesis type 2
- IRIDA - See Iron-refractory iron deficiency anemia
- IRIDA syndrome - See Iron-refractory iron deficiency anemia
- Iridocorneal endothelial syndrome
- Iridocyclitis - See Anterior uveitis
- Iridogoniodysgenesis and skeletal anomalies
- Iridogoniodysgenesis anomaly, Autosomal dominant - See Iridogoniodysgenesis type 1
- Iridogoniodysgenesis type 1
- Iridogoniodysgenesis type 2
- Iridogoniodysgenesis with somatic anomalies - See Axenfeld-Rieger syndrome
- Iris coloboma with ptosis hypertelorism and mental retardation - See Baraitser-Winter syndrome
- Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly - See Biemond syndrome 2
- Iris hypoplasia and glaucoma
- Iron miners lung - See Silicosiderosis
- Iron overload disease juvenile - See Hemochromatosis type 2
- Iron overload in Africa - See Bantu siderosis
- Iron-handling disorder, hereditary - See Iron-refractory iron deficiency anemia
- Iron-refractory iron deficiency anemia
- Irons Bhan syndrome
- IRVAN syndrome
- IS - See West syndrome
- Isaac syndrome - See Isaacs' syndrome
- Isaac-Mertens syndrome - See Isaacs' syndrome
- Isaacs' syndrome
- Isaac's-Merten's syndrome - See Isaacs' syndrome
- ISCH - See Idiopathic spinal cord herniation
- Ischemic optic neuropathy - See Anterior ischemic optic neuropathy
- Ischiadic hypoplasia renal dysfunction immunodeficiency
- ischiocoxopodopatellar syndrome - See Small patella syndrome
- Ischiopatellar dysplasia - See Small patella syndrome
- Islet cell tumor - See Pancreatic neuroendocrine tumor
- Isobutyryl-CoA dehydrogenase deficiency
- Isochromosome 18p - See Chromosome 18p tetrasomy
- Isochromosome 21 - See Tetrasomy 21
- Isochromosome Yp
- Isodicentric chromosome 15 syndrome
- Isolated 3-methylcrotonyl-CoA carboxylase deficiency - See 3-methylcrotonyl-CoA carboxylase deficiency
- Isolated ACTH deficiency
- Isolated Adrenocorticotropic hormone deficiency - See Isolated ACTH deficiency
- Isolated anophthalmia - microphthalmia - See Microphthalmia
- Isolated anophthalmia-microphthalmia syndrome - See Microphthalmia
- Isolated anterior cervical hypertrichosis
- Isolated atresia of bile ducts - See Biliary atresia
- Isolated autosomal dominant hypomagnesemia - See Renal hypomagnesemia 2
- Isolated autosomal dominant polycystic liver disease - See Polycystic liver disease
- Isolated Biliary atresia - See Biliary atresia
- Isolated cloverleaf skull syndrome - See Kleeblattschaedel syndrome
- Isolated complex I deficiency - See Mitochondrial complex I deficiency
- Isolated congenital adermatoglyphia - See Adermatoglyphia
- Isolated congenital anonychia - See Anonychia congenita
- Isolated congenital anosmia - See Congenital anosmia
- Isolated congenital controlateral synkinesia - See Congenital mirror movement disorder
- Isolated congenital megalocornea
- Isolated congenital mirror movements - See Congenital mirror movement disorder
- Isolated congenital nail dysplasia - See Nail dysplasia, isolated congenital
- Isolated corpus callosum agenesis - See Corpus callosum agenesis
- Isolated diffuse mesangial sclerosis - See Diffuse mesangial sclerosis
- Isolated ectopia lentis
- Isolated follicle-stimulating hormone (FSH) deficiency - See Follicle-stimulating hormone deficiency, isolated
- Isolated FSH deficiency - See Follicle-stimulating hormone deficiency, isolated
- 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 - See Isolated growth hormone deficiency type 1A
- Isolated growth hormone deficiency type II - See Isolated growth hormone deficiency type 2
- Isolated hyperostosis of the calvarium - See Calvarial hyperostosis
- Isolated hypoplasia of the right ventricle - See Right ventricle hypoplasia
- Isolated levocardia
- Isolated levocardia with situs inversus - See Isolated levocardia
- Isolated median cleft face syndrome - See Frontonasal dysplasia
- Isolated median cleft syndrome - See Frontonasal dysplasia
- Isolated microphthalmia-anophthalmia-coloboma - See Microphthalmia
- Isolated mitochondrial respiratory chain complex I deficiency - See Mitochondrial complex I deficiency
- Isolated NADH-coenzyme Q reductase deficiency - See Mitochondrial complex I deficiency
- Isolated NADH-CoQ reductase deficiency - See Mitochondrial complex I deficiency
- Isolated NADH-ubiquinone reductase deficiency - See Mitochondrial complex I deficiency
- Isolated polycystic liver disease - See Polycystic liver disease
- Isolated pure microphthalmia - See Microphthalmia
- Isolated renal magnesium wasting - See Renal hypomagnesemia 2
- Isolated right ventricular hypoplasia - See Right ventricle hypoplasia
- Isolated UAPA - See Unilateral absence of a pulmonary artery
- Isolated unilateral absence of a pulmonary artery - See Unilateral absence of a pulmonary artery
- Isolated vitamin E deficiency - See Ataxia with vitamin E deficiency
- Isosporiasis - See Cystoisosporiasis
- Isotretinoin (RoAccutane) embryopathy - See Fetal retinoid syndrome
- Isotretinoin embryopathy - See Fetal retinoid syndrome
- Isotretinoin embryopathy like syndrome
- Isotretinoin fetal effects of - See Fetal retinoid syndrome
- Isotretinoin teratogen syndrome - See Fetal retinoid syndrome
- Isovaleric acid CoA dehydrogenase deficiency - See Isovaleric acidemia
- Isovaleric acidemia
- Isovaleryl CoA carboxylase deficiency - See Isovaleric acidemia
- ISSD - See Free sialic acid storage disease
- Isthmian coarctation
- ITCH E3 ubiquitin ligase deficiency
- ITM2B amyloidosis - See Dementia, familial Danish
- ITO - See Hypomelanosis of Ito
- Ito hypomelanosis - See Hypomelanosis of Ito
- ITP - See Idiopathic thrombocytopenic purpura
- IVA - See Isovaleric acidemia
- IVD deficiency - See Isovaleric acidemia
- Ivemark syndrome
- IVF - See Paroxysmal ventricular fibrillation
- IVIC syndrome
- Iwashita syndrome - See Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy
sábado, 26 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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