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- I-cell disease
- i-MAD
- i-PPNAD
- IAD
- IAEP
- IAHS
- IAHSP
- Iatrogenic botulism
- Iatrogenic Creutzfeldt-Jakob disease
- Iatrogenic MCJ
- IBA57 deficiency
- IBM
- IBM2
- IBM3
- IBMPFD
- IBSN
- IC/BPS
- IC/PBS
- ICCA syndrome
- ICE syndrome
- ICF syndrome
- Ichthyosis
- Ichthyosis bullosa of Siemens
- Ichthyosis congenita, Harlequin type
- Ichthyosis exfoliativa
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Ichthyosis follicularis-atrichia-photophobia syndrome
- Ichthyosis hystrix Brocq type
- Ichthyosis hystrix of Curth-Macklin
- Ichthyosis hystrix Rheydt type
- Ichthyosis hystrix, Curth-Macklin type
- Ichthyosis variegata
- Ichthyosis with confetti
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
- Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Ichthyosis-hypotrichosis syndrome
- Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- Ichthyosis-oral and digital anomalies syndrome
- Ichthyosis-prematurity syndrome
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
- iCJD
- IDH
- IDI
- idic (15) syndrome
- Idiopathic achalasia
- Idiopathic achalasia of esophagus
- Idiopathic acute eosinophilic pneumonia
- Idiopathic acute transverse myelitis
- Idiopathic adult ductopenia
- Idiopathic and/or familial pulmonary arterial hypertension
- Idiopathic aplastic anemia
- Idiopathic asymptomatic hyperCKemia
- Idiopathic avascular necrosis
- Idiopathic AVN
- Idiopathic basal ganglia calcification
- Idiopathic bilateral vestibulopathy
- Idiopathic bile acid malabsorption
- Idiopathic bone marrow failure
- Idiopathic bronchiectasis
- Idiopathic camptocormia
- Idiopathic camptocormism
- Idiopathic capillary leak syndrome
- Idiopathic catastrophic epileptic encephalopathy
- Idiopathic catatonia
- Idiopathic catatonic syndrome
- Idiopathic CD4 lymphocytopenia
- Idiopathic chilldhood occipital epilepsy-Gastaut type
- Idiopathic chronic eosinophilic pneumonia
- Idiopathic congenital hypothyroidism
- Idiopathic copper-associated cirrhosis
- Idiopathic deciduous skin
- Idiopathic dropped head syndrome
- Idiopathic ductopenia
- Idiopathic eosinophilia-associated myopathy
- Idiopathic eosinophilic myositis
- Idiopathic eosinophilic pneumonia
- Idiopathic excessive sleepiness
- Idiopathic gastroparesis
- Idiopathic giant cell myocarditis
- Idiopathic granulomatous mastitis
- Idiopathic hemiconvulsion-hemiplegia syndrome
- Idiopathic human prion disease
- Idiopathic hypercalciuria
- Idiopathic hypereosinophilic syndrome
- Idiopathic hypersomnia
- Idiopathic hypertrophic osteoarthropathy
- Idiopathic hypertrophic pachymeningitis
- Idiopathic immunoglobulin deficiency
- Idiopathic infantile arterial calcification
- Idiopathic infection caused by BCG or atypical mycobacteria
- Idiopathic inflammatory myopathy
- Idiopathic inflammatory myositis
- Idiopathic interstitial pneumonia
- Idiopathic intracranial hypertension
- Idiopathic isolated micropenis
- Idiopathic juvenile osteoporosis
- Idiopathic late-onset cerebellar ataxia
- Idiopathic linear interstitial keratitis
- Idiopathic lobular panniculitis
- Idiopathic localized lipodystrophy
- Idiopathic macular telangiectasia type 1
- Idiopathic macular telangiectasia type 3
- Idiopathic malabsorption due to bile acid synthesis defects
- Idiopathic massive osteolysis
- Idiopathic membranous glomerulonephritis
- Idiopathic Moyamoya disease
- Idiopathic multicentric Castleman disease
- Idiopathic multicentric osteolysis with or without nephropathy
- Idiopathic multidrug-resistant nephrotic syndrome
- Idiopathic myelofibrosis
- Idiopathic neonatal atrial flutter
- Idiopathic nephrotic syndrome
- Idiopathic nodular panniculitis
- Idiopathic non-lupus FHN
- Idiopathic non-lupus full-house nephropathy
- Idiopathic obliterative arteriopathy
- Idiopathic OPN
- Idiopathic optic perineuritis
- Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
- Idiopathic orthostatic hypotension
- Idiopathic panuveitis
- Idiopathic peliosis hepatis
- Idiopathic peliosis hepatitis
- Idiopathic phalangeal acro-osteolysis
- Idiopathic phalangeal acroosteolysis
- Idiopathic pleuroparenchymal fibroelastosis
- Idiopathic pleuropulmonary fibroelastosis
- Idiopathic posterior uveitis
- Idiopathic pregnancy-associated osteoporosis
- Idiopathic premenopausal osteoporosis associated with pregnancy
- Idiopathic progressive lumbar kyphosis
- Idiopathic pulmonary arterial hypertension
- Idiopathic pulmonary artery dilatation
- Idiopathic pulmonary fibrosis
- Idiopathic pulmonary hemosiderosis
- Idiopathic recurrent pericarditis
- Idiopathic recurrent stupor
- Idiopathic relapsing pericarditis
- Idiopathic retinal perivasculitis
- Idiopathic retinal vasculitis
- Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
- Idiopathic retroperitoneal fibrosis
- Idiopathic SCAD
- Idiopathic scleritis
- Idiopathic small fibers neuropathy
- Idiopathic spontaneous coronary artery dissection
- Idiopathic SRNS
- Idiopathic SSNS with secondary steroid resistance
- Idiopathic steroid-resistant nephrotic syndrome
- Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression
- Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
- Idiopathic steroid-sensitive nephrotic syndrome
- Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- Idiopathic subglottic stenosis
- Idiopathic syringomyelia
- Idiopathic torsion dystonia
- Idiopathic torsion dystonia of mixed type
- Idiopathic tracheobronchomegaly
- Idiopathic trachyonychia
- Idiopathic uveal effusion syndrome
- Idiopathic ventricular fibrillation, Brugada type
- Idiopathic ventricular fibrillation, non Brugada type
- Idiopathic-SFN
- Idiopathic/heritable pulmonary arterial hypertension
- IDMDC
- Iduronate 2-sulfatase deficiency
- Iduronate 2-sulfatase deficiency type A
- Iduronate 2-sulfatase deficiency type B
- IED
- Ieshima-Koeda-Inagaki syndrome
- IESS
- IFAH syndrome
- IFAP syndrome
- IFD
- Ig-mediated membranoproliferative glomerulonephritis
- Ig-mediated MPGN
- IgA nephropathy
- IgA pemphigus
- IgA vasculitis
- IGCM
- IGDA
- IGF-1 deficiency
- IgG subclass deficiency with IgA subclass deficiency
- IgG4-related aortitis
- IgG4-related dacryoadenitis and sialadenitis
- IgG4-related disease
- IgG4-related eosinophilic angiocentric fibrosis
- IgG4-related inflammatory pseudotumor of the liver
- IgG4-related kidney disease
- IgG4-related mediastinitis
- IgG4-related mesenteritis
- IgG4-related ophthalmic disease
- IgG4-related pachymeningitis
- IgG4-related pancreatitis
- IgG4-related retroperitoneal fibrosis
- IgG4-related sclerosing cholangitis
- IgG4-related sclerosing disease
- IgG4-related submandibular gland disease
- IgG4-related systemic disease
- IgG4-related thyroid disease
- IGSF1 deficiency syndrome
- IHF
- IHHS
- IHPRF syndrome
- IHS
- IHSC
- IIH
- IJO
- IL10-related early-onset IBD
- IL10-related early-onset inflammatory bowel disease
- IL21-related infantile IBD
- IL21-related infantile inflammatory bowel disease
- ILD
- ILD in childhood and adulthood
- ILD specific to adulthood
- ILD specific to childhood
- ILD specific to infancy
- Ileal neuroendocrine neoplasm
- Ileal neuroendocrine tumor
- Ileal pouch anal anastomosis related faecal incontinence
- Illum syndrome
- ILNEB syndrome
- ILVEN
- Imagawa-Matsumoto syndrome
- IMAGe syndrome
- IMAM
- IMCA
- Imerslund-Gräsbeck syndrome
- Iminoglycinuria
- IMM
- Immature interstitial mesenchymal tumor
- Immature teratoma of ovary
- Immigration delay disease
- Immune brachial plexus neuropathy
- Immune complex mediated vasculitis
- Immune deficiency with skin involvement
- Immune dysfunction due to T-cell inactivation due to calcium entry defect
- Immune dysregulation disease with immunodeficiency
- Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
- Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility
- Immune dysregulation with inflammatory bowel disease
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- Immune fetal edema
- Immune fetal hydrops
- Immune HF
- Immune hydrops fetalis
- Immune myopathy with myocyte necrosis
- Immune pancytopenia
- Immune thrombocytopenia
- Immune thrombocytopenic purpura
- Immune-mediated acquired neuromuscular junction disease
- Immune-mediated cerebellar ataxia
- Immune-mediated necrotizing myopathy
- Immune-mediated protracted diarrhea of infancy
- Immune-mediated rippling muscle disease
- Immune-mediated scleritis
- Immune-mediated thrombotic thrombocytopenic purpura
- Immuno-osseous dysplasia
- Immunoblastic lymphadenopathy
- Immunodeficiency by defective expression of MHC class I
- Immunodeficiency by defective expression of MHC class II
- Immunodeficiency due to a classical component pathway complement deficiency
- Immunodeficiency due to a complement cascade component deficiency
- Immunodeficiency due to a complement cascade protein anomaly
- Immunodeficiency due to a complement regulatory deficiency
- Immunodeficiency due to a late component of complement deficiency
- Immunodeficiency due to an early component of complement deficiency
- Immunodeficiency due to C1, C4, or C2 component complement deficiency
- Immunodeficiency due to C5 to C9 component complement deficiency
- Immunodeficiency due to CD25 deficiency
- Immunodeficiency due to ficolin3 deficiency
- Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
- Immunodeficiency due to MASP-2 deficiency
- Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- Immunodeficiency predominantly affecting antibody production
- Immunodeficiency syndrome with autoimmunity
- Immunodeficiency with factor H anomaly
- Immunodeficiency with factor I anomaly
- Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
- Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
- Immunodeficiency-associated lymphoproliferative disease
- Immunodeficiency-centromeric instability-facial anomalies syndrome
- Immunodeficiency-centromeric instability-facial dysmorphism syndrome
- Immunodeficiency-microcephaly-chromosomal instability syndrome
- Immunodeficiency-short limb dwarfism syndrome
- Immunoglobulin A nephropathy
- Immunoglobulin A vasculitis
- Immunoglobulin G4-related sclerosing disease
- Immunoglobulin heavy chain deficiency
- Immunoglobulin-mediated membranoproliferative glomerulonephritis
- Immunoglobulin-mediated MPGN
- Immunologic neutropenia
- Immunoproliferative small intestinal disease
- Immunotactoid glomerulonephritis
- Immunotactoid glomerulopathy
- Immunotactoid or fibrillary glomerulonephritis
- Immunotactoid or fibrillary glomerulopathy
- Immunotherapy induced hypophysitis
- IMNEPD
- IMNM
- Imperforate anus-hand, foot and ear anomalies syndrome
- Imperforate oropharynx-costovertebral anomalies syndrome
- Imploding antrum syndrome
- Imprinting disorders
- INAD
- INAD1
- Inadvertent botulism
- Incessant infant ventricular tachycardia
- Inclusion body beta-thalassemia
- Inclusion body fibromatosis
- Inclusion body myopathy type 2
- Inclusion body myopathy type 3
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Inclusion body myositis
- Inclusion myopathy
- Incomplete bilateral aplasia of the Müllerian ducts
- Incomplete hydatidiform mole
- Incomplete Meigs syndrome
- Incomplete molar pregnancy
- Incomplete septal cirrhosis
- Incomplete septal fibrosis
- Incomplete situs inversus
- Incomplete unilateral aplasia of the Müllerian ducts
- Incomplete unilateral Müllerian aplasia
- Incontinentia pigmenti
- Indeterminate cell histiocytosis
- Indeterminate dendritic cell neoplasm
- Indeterminate dendritic cell tumor
- Index finger anomaly-Pierre Robin syndrome
- Indolent B-cell NHL
- Indolent B-cell non-Hodgkin lymphoma
- Indolent primary cutaneous B-cell lymphoma
- Indolent primary cutaneous T-cell lymphoma
- Indolent systemic mastocytosis
- Indomethacin embryofetopathy
- Infant acute respiratory distress syndrome
- Infant ARDS
- Infant botulism
- Infant intestinal botulism
- Infant intestinal toxemia botulism
- Infant intestinal toxin-mediated botulism
- Infant respiratory distress syndrome
- Infant-like botulism
- Infantile acrodynia
- Infantile agranulocytosis
- Infantile and juvenile forms of acromegaly
- Infantile apnea
- Infantile arteriosclerosis
- Infantile bilateral striatal necrosis
- Infantile botulism
- Infantile Canavan disease
- Infantile cardiomyopathy with histiocytoid change
- Infantile cellular interstitial pneumonitis
- Infantile cerebellar-retinal degeneration
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
- Infantile cerebral Gaucher disease
- Infantile choroidocerebral calcification syndrome
- Infantile convulsions and choreoathetosis
- Infantile cortical hyperostosis
- Infantile digital fibromatosis
- Infantile dysmorphic sialidosis
- Infantile dystonia-parkinsonism
- Infantile epilepsy syndrome
- Infantile epileptic spasms syndrome
- Infantile epileptic-dyskinetic encephalopathy
- Infantile gigantism due to pituitary hyperplasia
- Infantile glycine encephalopathy
- Infantile GM1 gangliosidosis
- Infantile hemangioma of rare localization
- Infantile hereditary endothelial dystrophy
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
- Infantile hypophosphatasia
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Infantile hypotonia-psychomotor retardation-characteristic facies syndrome
- Infantile inflammatory bowel disease with neurological involvement
- Infantile juvenile polyposis syndrome
- Infantile Krabbe disease
- Infantile LAD-like disease due to RAC2 deficiency
- Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
- Infantile lobar hyperinflation
- Infantile malignant osteopetrosis
- Infantile mercury intoxication
- Infantile mercury poisoning
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Infantile myofibromatosis
- Infantile nephronophthisis
- Infantile nephropathic cystinosis
- Infantile neuroaxonal dystrophy
- Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
- Infantile neurovisceral acid sphingomyelinase deficiency
- Infantile neurovisceral ASMD
- Infantile NKH
- Infantile non-ketotic hyperglycinemia
- Infantile onset panniculitis with uveitis and systemic granulomatosis
- Infantile optic atrophy with chorea and spastic paraplegia
- Infantile osteopetrosis with neuroaxonal dysplasia
- Infantile phosphoethanolaminuria
- Infantile Rathbun disease
- Infantile Refsum disease
- Infantile reversible cytochrome C oxidase deficiency myopathy
- Infantile spasms-broad thumbs syndrome
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- Infantile spinal muscular atrophy
- Infantile striatonigral degeneration
- Infantile striatonigral necrosis
- Infantile subacute necrotizing encephalopathy
- Infantile systemic hyalinosis
- Infantile tibia vara
- Infantile xanthomatous cardiomyopathy
- Infantile-onset ascending hereditary spastic paralysis
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Infantile-onset generalized dyskinesia with orofacial involvement
- Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
- Infantile-onset multisystem inflammatory disease
- Infantile-onset orofacial-trunk-limbs dyskinesia
- Infantile-onset periodic fever-panniculitis-dermatosis syndrome
- Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
- Infantile-onset spinal muscular atrophy
- Infantile-onset spinocerebellar ataxia
- Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
- Infantile-onset X-linked spinal muscular atrophy
- Infection due to Coxiella burnetii
- Infection-related hemolytic uremic syndrome
- Infection-related HUS
- Infectious anterior uveitis
- Infectious disease of the nervous system
- Infectious disease with dementia
- Infectious disease with epilepsy
- Infectious disease with peripheral neuropathy
- Infectious embryofetopathy
- Infectious encephalitis
- Infectious endocarditis
- Infectious epithelial keratitis
- Infectious human prion disease
- Infectious panuveitis
- Infectious posterior uveitis
- Infectious scleritis
- Infectious, fungal or parasitic myopathy
- Infective dermatitis associated with HTLV-1
- Infective dermatitis associated with human T-lymphotropic virus type 1
- Infective dermatitis associated with human T-lymphotropic virus type I
- Infective endocarditis
- Infective keratitis
- Inferior caval vein interruption
- Inferior palpebral coloboma
- Inferior vena cava interruption with azygos continuation
- Inferior vena cava interruption without azygos continuation
- Infiltrative small vesicular DCM
- Infiltrative small vesicular diffuse cutaneous mastocytosis
- Inflammatory amyloidosis
- Inflammatory and autoimmune disease with epilepsy
- Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
- Inflammatory linear verrucous epidermal nevus
- Inflammatory myofibroblastic tumor
- Inflammatory myoglandular polyps
- Inflammatory myopathy with abundant macrophages
- Inflammatory peeling skin disease
- Inflammatory peeling skin syndrome
- Inflammatory pseudotumor of skeletal muscle
- Inflammatory pseudotumor of the liver
- Inflammatory/autoimmune disorder involving the lacrimal system
- INFLTR8
- Infundibulo-neurohypophysitis
- Infundibulo-panhypophysitis
- Inhalation anthrax disease
- Inhalation botulism
- Inhalational anthrax
- Inhalational botulism
- Inherited acute myeloid leukemia
- Inherited AML
- Inherited arrhythmogenic cardiomyopathy
- Inherited cancer-predisposing lymphoproliferative syndrome
- Inherited cancer-predisposing syndrome
- Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
- Inherited CJD
- Inherited congenital spastic quadriplegia
- Inherited congenital spastic tetraplegia
- Inherited Creutzfeldt-Jakob disease
- Inherited deficiency of transcobalamin
- Inherited digestive cancer-predisposing syndrome
- Inherited epidermodysplasia verruciformis
- Inherited epidermolysis bullosa
- Inherited estrogen-associated angioedema
- Inherited estrogen-associated angioneurotic edema
- Inherited estrogen-dependent angioedema
- Inherited estrogen-dependent angioneurotic edema
- Inherited glutamine synthetase deficiency
- Inherited GS deficiency
- Inherited gynecological cancer-predisposing syndrome
- Inherited hematologic cancer-predisposing syndrome
- Inherited human prion disease
- Inherited ichthyosis
- Inherited ichthyosis syndromic form
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Inherited isolated arrhythmogenic cardiomyopathy
- Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
- Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
- Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
- Inherited nervous system cancer-predisposing syndrome
- Inherited non-syndromic ichthyosis
- Inherited renal cancer-predisposing syndrome
- Inherited retinal disorder
- Inherited zinc deficiency
- Iniencephaly
- Inoculation botulism
- INPP5K-related syndrome
- Insulin autoimmune syndrome
- Insulin-resistance syndrome type A
- Insulin-resistance syndrome type B
- Insulinoma
- Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
- Integrinopathy
- Intellectual disability associated with fragile site FRAXE
- Intellectual disability syndrome due to a DYRK1A point mutation
- Intellectual disability, Birk-Barel type
- Intellectual disability, Buenos-Aires type
- Intellectual disability, Mietens-Weber type
- Intellectual disability, Wolff type
- Intellectual disability-alacrima-achalasia syndrome
- Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-brachydactyly-Pierre Robin syndrome
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Intellectual disability-cupped ears syndrome
- Intellectual disability-developmental delay-contractures syndrome
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- Intellectual disability-early-onset cataract-microcephaly syndrome
- Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
- Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
- Intellectual disability-epilepsy-bulbous nose syndrome
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
- Intellectual disability-epilepsy-endocrine disorders syndrome
- Intellectual disability-epilepsy-extrapyramidal syndrome
- Intellectual disability-epilepsy-stereotypic hand movement syndrome
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome
- Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- Intellectual disability-hypotonia-facial dysmorphism syndrome
- Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
- Intellectual disability-loss of expressive language-facial dysmorphism syndrome
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Intellectual disability-short stature-hand contractures-genital anomalies syndrome
- Intellectual disability-short stature-hypertelorism syndrome
- Intellectual disability-sparse hair-brachydactyly syndrome
- Intellectual disability-spasticity-ectrodactyly syndrome
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
- Intellectual disability-strabismus syndrome
- Intellectual disability-truncal obesity syndrome
- Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
- Interatrial communication
- Interauricular communication
- Intercostal nerve syndrome
- Interdigitating cell sarcoma
- Interdigitating dendritic cell sarcoma
- Interleukin-1 receptor antagonist deficiency
- Interleukin-2 receptor alpha chain deficiency
- Intermediate atrioventricular canal defect
- Intermediate atrioventricular septal defect
- Intermediate AVSD
- Intermediate BCKD deficiency
- Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
- Intermediate Charcot-Marie-Tooth disease
- Intermediate CMT
- Intermediate COL6-RD
- Intermediate collagen VI-related muscular dystrophy
- Intermediate cystinosis
- Intermediate DEND syndrome
- Intermediate EBS with cardiomyopathy
- Intermediate epidermolysis bullosa simplex with cardiomyopathy
- Intermediate generalized JEB
- Intermediate generalized junctional epidermolysis bullosa
- Intermediate hereditary motor and sensory neuropathy
- Intermediate lichen myxedematosus
- Intermediate maple syrup urine disease
- Intermediate MSUD
- Intermediate nemaline myopathy
- Intermediate osteopetrosis
- Intermediate PBD-ZSD
- Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
- Intermediate severe Salla disease
- Intermediate spinal muscular atrophy
- Intermediate tumors
- Intermediate uveitis
- Intermittent BCKD deficiency
- Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
- Intermittent cutaneous lupus
- Intermittent hydrarthrosis
- Intermittent maple syrup urine disease
- Intermittent MSUD
- Internal carotid absence
- Interstitial cystitis
- Interstitial cystitis/bladder pain syndrome
- Interstitial cystitis/painful bladder syndrome
- Interstitial granulomatous dermatitis with arthritis
- Interstitial lung and liver disease
- Interstitial lung disease
- Interstitial lung disease due to ABCA3 deficiency
- Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
- Interstitial lung disease due to SP-C deficiency
- Interstitial lung disease due to surfactant protein C deficiency
- Interstitial lung disease in childhood and adulthood
- Interstitial lung disease specific to adulthood
- Interstitial lung disease specific to childhood
- Interstitial lung disease specific to infancy
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
- Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome
- Interventricular septum aneurysm
- Intestinal botulism
- Intestinal colonization botulism
- Intestinal disease due to fat malabsorption
- Intestinal disease due to vitamin absorption anomaly
- Intestinal epithelial dysplasia
- Intestinal hypomagnesemia with secondary hypocalcemia
- Intestinal lipodystrophy
- Intestinal lymphangiectasia
- Intestinal malformation
- Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
- Intestinal polyposis syndrome
- Intestinal T-cell lymphoma
- Intestinal toxemia botulism
- Intestinal toxin-mediated botulism
- Intoxication botulism
- Intracranial arteriovenous malformation
- Intracranial endodermal sinus tumor
- Intracranial yolk sac tumor
- Intractable diarrhea of infancy
- Intractable diarrhea-choanal atresia-eye anomalies syndrome
- Intraductal papillary mucinous carcinoma of pancreas
- Intraductal tubulopapillary neoplasm of pancreas
- Intrahepatic bile duct cystadenocarcinoma
- Intrahepatic cholestasis of pregnancy
- Intralobar congenital bronchopulmonary sequestration
- Intralobar congenital pulmonary sequestration
- Intramedullary non-dysraphic spinal cord lipoma
- Intraneural perineurioma
- Intraocular medulloepithelioma
- Intraoral basal cell carcinoma
- Intraosseous hemangioma
- Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
- Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
- Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
- Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
- Intrauterine methylmercury poisoning
- Intravascular large B-cell lymphoma
- Intravascular lymphomatosis
- Intravascular papillary endothelial hyperplasia
- Intrinsic factor deficiency
- iNTS disease
- Inv dup (15) syndrome
- Invasive candidiasis
- Invasive candidiasis-deep dermatophytosis syndrome
- Invasive infections due to vancomycin-resistant enterococci
- Invasive infections due to VRE
- Invasive mole
- Invasive non-typhoidal salmonella disease
- Invasive non-typhoidal salmonellosis
- Invasive scopulariopsis infection
- Invdupdel(8p)
- Inverse Klippel-Trénaunay syndrome
- Inverse Marcus-Gunn phenomenon
- Inverted 8p duplication/deletion syndrome
- Inverted duplicated chromosome 15 syndrome
- Inverted smile-neurogenic bladder syndrome
- IOBCC intramucosal basal cell carcinoma
- IOMID syndrome
- ION
- IOSCA
- IPAH
- IPD
- IPEH
- IPEX
- IPF
- IPMN
- Ipp-Gelfand syndrome
- IPPFE
- IPS
- IPSID
- IQSEC2-related syndromic intellectual disability
- IRAK4 deficiency
- IRD
- IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
- IRIDA syndrome
- Iridocorneal endothelial syndrome
- Iridocyclitis
- Iron overload disease
- Iron-refractory iron deficiency anemia
- Iron-sulfur cluster deficiency myopathy
- Irons-Bhan syndrome
- Irons-Bianchi syndrome
- IRVAN syndrome
- Isaacs syndrome
- Isaacs-Mertens syndrome
- ISCA1 deficiency
- Ischiocoxopodopatellar syndrome
- Ischiopatellar dysplasia
- Ischiopubicpatellar syndrome
- ISCU myopathy
- iSGS
- Iso-Kikuchi syndrome
- Isobutyric aciduria
- Isobutyryl-CoA dehydrogenase deficiency
- Isochromosome 12p mosaicism
- Isochromosome 12p syndrome
- Isochromosome 18p
- Isochromosome 21
- Isochromosome 5p
- Isochromosome 9p
- Isochromosome Y
- Isochromosomy Yp
- Isochromosomy Yq
- ISOD
- Isodicentric chromosome 15 syndrome
- Isolated absence of both forearm and hand
- Isolated absence of both lower leg and foot
- Isolated absence of thigh and lower leg with foot present
- Isolated absence of upper arm and forearm with hand present
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral
- Isolated acheiria
- Isolated acheiropodia
- Isolated acheiropody
- Isolated acute necrotizing encephalopathy
- Isolated agammaglobulinemia
- Isolated agenesis of gallbladder
- Isolated amelia of lower limb
- Isolated amelia of upper limb
- Isolated amyelia
- Isolated anal canal duplication
- Isolated ANE
- Isolated anencephaly
- Isolated anencephaly/exencephaly
- Isolated angiitis of the central nervous system
- Isolated angioid streaks
- Isolated aniridia
- Isolated ankyloblepharon filiforme adnatum
- Isolated anomalous left pulmonary artery
- Isolated anonychia
- Isolated anophthalmia-microphthalmia syndrome
- Isolated anterior cervical hypertrichosis
- Isolated apertura pyriformis stenosis
- Isolated apodia
- Isolated arhinencephaly
- Isolated arrhinia
- Isolated asymmetric crying facies
- Isolated asymptomatic elevation of creatine phosphokinase
- Isolated asymptomatic hyperCKemia
- Isolated ATP synthase deficiency
- Isolated atresia of bile ducts
- Isolated autosomal dominant hypomagnesemia
- Isolated autosomal dominant hypomagnesemia, Glaudemans type
- Isolated bicoronal and metopic craniosynostosis
- Isolated bicoronal and sagittal craniosynostosis
- Isolated bicoronal craniosynostosis
- Isolated bilambdoid craniosynostosis
- Isolated bilateral hemispheric cerebellar hypoplasia
- Isolated biliary atresia
- Isolated blepharochalasis
- Isolated bone marrow mastocytosis
- Isolated brachycephaly
- Isolated CAS
- Isolated catatonia
- Isolated catatonic syndrome
- Isolated cerebellar agenesis
- Isolated cerebellar vermis agenesis
- Isolated cerebellar vermis hypoplasia
- Isolated CHF
- Isolated childhood apraxia of speech
- Isolated chorioretinal dystrophy
- Isolated cleft lip
- Isolated cleft of the ala nasi
- Isolated cleft of the soft and hard palate
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated coloboma of the nose
- Isolated complex I deficiency
- Isolated complex III deficiency
- Isolated congenital absence of foot
- Isolated congenital absence of hand
- Isolated congenital absence of humerus
- Isolated congenital absence of lower limb
- Isolated congenital absence of tibia
- Isolated congenital absence of upper limb
- Isolated congenital absence/hypoplasia of thumb
- Isolated congenital acropachy
- Isolated congenital adactyly of hand, unilateral
- Isolated congenital adermatoglyphia
- Isolated congenital aglossia
- Isolated congenital alacrima
- Isolated congenital amastia
- Isolated congenital anonychia
- Isolated congenital anosmia
- Isolated congenital aplasia and dysplasia of the tibia with intact fibula
- Isolated congenital auditory ossicle malformation
- Isolated congenital breast hypoplasia/aplasia
- Isolated congenital controlateral synkinesia
- Isolated congenital digital clubbing
- Isolated congenital distal femoral duplication
- Isolated congenital ectropion
- Isolated congenital elbow dislocation
- Isolated congenital entropion
- Isolated congenital femoral bifurcation
- Isolated congenital femoral deficiency
- Isolated congenital femoro-tibio-fibular intercalary transverse meromelia
- Isolated congenital gonadotropin deficiency
- Isolated congenital hepatic fibrosis
- Isolated congenital humeral deficiency
- Isolated congenital humero-radio-ulnar intercalary transverse meromelia
- Isolated congenital humero-radioulnar fusion
- Isolated congenital humeroradial fusion
- Isolated congenital humeroulnar fusion
- Isolated congenital hypoglossia
- Isolated congenital hypoglossia/aglossia
- Isolated congenital hypogonadotropic hypogonadism
- Isolated congenital hypoplasia of humerus
- Isolated congenital laryngeal web
- Isolated congenital longitudinal deficiency of the fibula
- Isolated congenital longitudinal deficiency of the radius
- Isolated congenital longitudinal deficiency of the tibia
- Isolated congenital longitudinal deficiency of the ulna
- Isolated congenital maxillomandibular fusion
- Isolated congenital megalocornea
- Isolated congenital microcephaly
- Isolated congenital mirror movements
- Isolated congenital nasal pyriform aperture stenosis
- Isolated congenital onychodysplasia
- Isolated congenital proximal femoral deficiency
- Isolated congenital pseudarthrosis of the limbs
- Isolated congenital radial head dislocation
- Isolated congenital radio-ulnar terminal transverse meromelia
- Isolated congenital radioulnar fusion
- Isolated congenital sclerocornea
- Isolated congenital short femur
- Isolated congenital supernumerary phalanges
- Isolated congenital syngnathia
- Isolated congenital thumb hypodactyly
- Isolated congenital thumb oligodactyly
- Isolated congenital tibiofibular fusion
- Isolated congenital tibiofibular terminal transverse meromelia
- Isolated congenitally uncorrected transposition of the great arteries
- Isolated congenitally uncorrected transposition of the great vessels
- Isolated constitutional thrombocytopenia
- Isolated CoQ-cytochrome C reductase deficiency
- Isolated corpus callosum agenesis
- Isolated COX deficiency
- Isolated craniosynostosis
- Isolated cryptophthalmia
- Isolated cytochrome C oxidase deficiency
- Isolated Dandy-Walker malformation
- Isolated Dandy-Walker malformation with hydrocephalus
- Isolated Dandy-Walker malformation without hydrocephalus
- Isolated delta-SPD
- Isolated delta-storage pool disease
- Isolated dense-SPD
- Isolated dense-storage pool disease
- Isolated developmental verbal dyspraxia
- Isolated diffuse keratosis palmoplantaris
- Isolated diffuse palmoplantar hyperkeratosis
- Isolated diffuse palmoplantar keratoderma
- Isolated diffuse PPK
- Isolated digits 2-5 hypodactyly, unilateral
- Isolated digits 2-5 oligodactyly, unilateral
- Isolated distal symphalangism
- Isolated distichiasis
- Isolated dystonia
- Isolated ectopia lentis
- Isolated encephalocele
- Isolated epispadias
- Isolated exencephaly
- Isolated female hypospadias
- Isolated femoral agenesis/hypoplasia
- Isolated femoral intercalary meromelia
- Isolated fibular deficiency
- Isolated fibular hemimelia
- Isolated fibular longitudinal meromelia
- Isolated filum lipoma
- Isolated focal cortical dysplasia
- Isolated focal cortical dysplasia type 2
- Isolated focal cortical dysplasia type I
- Isolated focal cortical dysplasia type Ia
- Isolated focal cortical dysplasia type Ib
- Isolated focal cortical dysplasia type Ic
- Isolated focal cortical dysplasia type II
- Isolated focal cortical dysplasia type IIa
- Isolated focal cortical dysplasia type IIb
- Isolated focal keratosis palmoplantaris
- Isolated focal non-epidermolytic palmoplantar keratoderma
- Isolated focal palmoplantar hyperkeratosis
- Isolated focal palmoplantar keratoderma
- Isolated focal PPK
- Isolated follicle stimulating hormone deficiency
- Isolated foveal hypoplasia
- Isolated frontal plagiocephaly
- Isolated FSH deficiency
- Isolated generalized anhidrosis with normal sweat glands
- Isolated genetic deafness
- Isolated genetic hearing loss
- Isolated glycerol kinase deficiency
- Isolated gonadotropin-releasing hormone deficiency
- Isolated growth hormone deficiency type IA
- Isolated growth hormone deficiency type IB
- Isolated growth hormone deficiency type II
- Isolated growth hormone deficiency type III
- Isolated growth hormone deficiency type IV
- Isolated hair shaft abnormality
- Isolated hemihyperplasia
- Isolated hemihypertrophy
- Isolated hereditary congenital facial paralysis
- Isolated hereditary giant platelet disorder
- Isolated hereditary macrothrombocytopenia
- Isolated humeral agenesis/hypoplasia
- Isolated humeral intercalary meromelia
- Isolated humero-radial synostosis
- Isolated humero-radio-ulnar synostosis
- Isolated humero-ulnar synostosis
- Isolated hyperchlorhidrosis
- Isolated hyperphalangy
- Isolated hypogammaglobulinemia
- Isolated hypoplasia of thumb
- Isolated IgG subclass deficiency
- Isolated inherited giant platelet disorder
- Isolated inherited macrothrombocytopenia
- Isolated inherited retinal disorder
- Isolated iridoschisis
- Isolated Klippel-Feil syndrome
- Isolated left bronchial isomerism
- Isolated left pulmonary artery sling
- Isolated levocardia
- Isolated lissencephaly type 1 without known genetic defects
- Isolated macrencephaly
- Isolated macular dystrophy
- Isolated median cleft face syndrome
- Isolated megalencephaly
- Isolated megalopapilla
- Isolated melanocytic schwannoma
- Isolated melanotic schwannoma
- Isolated mesenteric lipodystrophy
- Isolated mesenteric vein thrombosis
- Isolated metopic and sagittal craniosynostosis
- Isolated metopic craniosynostosis
- Isolated micronodular adrenocortical disease
- Isolated microphthalmia-anophthalmia-coloboma
- Isolated microspherophakia
- Isolated mitochondrial neurosensory deafness
- Isolated mitochondrial neurosensory hearing loss
- Isolated mitochondrial respiratory chain complex I deficiency
- Isolated mitochondrial respiratory chain complex II deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated mitochondrial respiratory chain complex IV deficiency
- Isolated mitochondrial respiratory chain complex V deficiency
- Isolated mitochondrial sensorineural deafness
- Isolated mitochondrial sensorineural hearing loss
- Isolated multisutural craniosynostosis
- Isolated NADH-coenzyme Q reductase deficiency
- Isolated NADH-CoQ reductase deficiency
- Isolated NADH-ubiquinone reductase deficiency
- Isolated nail anomaly
- Isolated nail clubbing
- Isolated nasal pyriform aperture hypoplasia
- Isolated neck extensor myopathy
- Isolated neonatal sclerosing cholangitis
- Isolated non-specific multisutural craniosynostosis
- Isolated nose agenesis
- Isolated occipital plagiocephaly
- Isolated optic nerve aplasia
- Isolated optic nerve hypoplasia
- Isolated optic neuritis
- Isolated osteopoikilosis
- Isolated oxidative phosphorylation complex disorder
- Isolated pachycephaly
- Isolated pansynostosis
- Isolated partial cerebellar vermis agenesis
- Isolated partial vaginal agenesis
- Isolated patella aplasia/hypoplasia
- Isolated perforation
- Isolated permanent neonatal diabetes mellitus
- Isolated persistent urogenital sinus
- Isolated Pierre Robin sequence
- Isolated Pierre Robin syndrome
- Isolated PNDM
- Isolated polycystic liver disease
- Isolated polythelia
- Isolated posterior meningocele
- Isolated PPNAD
- Isolated primary pigmented nodular adrenocortical disease
- Isolated progressive inherited retinal disorder
- Isolated prothyroliberin deficiency
- Isolated protirelin deficiency
- Isolated proximal femoral focal deficiency
- Isolated pseudoarthrosis of the limbs
- Isolated PUGS
- Isolated pulmonary artery sling
- Isolated pulmonary capillaritis
- Isolated punctate palmoplantar hyperkeratosis
- Isolated punctate palmoplantar keratoderma
- Isolated punctate PPK
- Isolated radial club hand
- Isolated radial hemimelia
- Isolated radial longitidinal meromelia
- Isolated radial ray agenesis
- Isolated radio-ulnar synostosis
- Isolated relapsing optic neuritis
- Isolated relapsing optic neuropathy
- Isolated renal magnesium wasting
- Isolated respiratory chain complex disorder
- Isolated retinal arteriovenous aneurysm 3
- Isolated retinal racemose hemangioma
- Isolated right ventricular hypoplasia
- Isolated sagittal and bilambdoid craniosynostosis
- Isolated sagittal craniosynostosis
- Isolated scaphocephaly
- Isolated SCCH
- Isolated sedoheptulokinase deficiency
- Isolated segmental infantile hemangioma
- Isolated SHPK deficiency
- Isolated single optic neuritis
- Isolated spina bifida
- Isolated spinal dysraphism
- Isolated splenic vein thrombosis
- Isolated splenogonadal fusion
- Isolated split hand-split foot malformation
- Isolated stationary inherited retinal disorder
- Isolated sternocostoclavicular hyperostosis
- Isolated succinate dehydrogenase deficiency
- Isolated succinate-coenzyme Q reductase deficiency
- Isolated succinate-CoQ reductase deficiency
- Isolated succinate-ubiquinone reductase deficiency
- Isolated sulfite oxidase deficiency
- Isolated tetra-amelia
- Isolated thyroid-stimulating hormone deficiency
- Isolated thyroliberin deficiency
- Isolated thyrotropin deficiency
- Isolated thyrotropin-releasing factor deficiency
- Isolated thyrotropin-releasing hormone deficiency
- Isolated tibial hemimelia
- Isolated tibial longitudinal meromelia
- Isolated tibio-fibular synostosis
- Isolated total amelia
- Isolated total cerebellar vermis agenesis
- Isolated tracheoesophageal fistula
- Isolated transitional filum lipoma
- Isolated trehalose intolerance
- Isolated TRF deficiency
- Isolated TRH deficiency
- Isolated trigonocephaly
- Isolated TSH deficiency
- Isolated TSH-releasing factor deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency
- Isolated ulnar clubhand
- Isolated ulnar deficiency of forearm
- Isolated ulnar hemimelia
- Isolated ulnar longitudinal meromelia
- Isolated unicoronal and sagittal craniosynostosis
- Isolated unicoronal craniosynostosis
- Isolated unifrontosphenoidal craniosynostosis
- Isolated unilamboid craniosynostosis
- Isolated unilateral hemispheric cerebellar hypoplasia
- Isolated unilateral sphenofrontal suture synostosis
- Isolated unisquamosal craniosynostosis
- Isolated unisutural craniosynostosis
- Isolated ventriculoarterial discordance
- Isolated vitamin E deficiency
- Isolated vitreoretinopathy
- Isomerism of left atrial appendage
- Isomerism of right atrial appendage
- Isosporiasis
- Isotretinoin embryopathy
- Isotretinoin syndrome
- Isotretinoin-like syndrome
- Isovaleric acid CoA dehydrogenase deficiency
- Isovaleric acidemia
- ISPD-related LGMD R20
- ISPD-related limb-girdle muscular dystrophy R20
- ISSD
- ITK deficiency
- ITM2B amyloidosis
- ITM2B-related amyloidosis
- ITM2B-related cerebral amyloid angiopathy
- ITP
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- ITPN
- iTTP
- IU
- IVC interruption
- Ivemark II syndrome
- Ivemark syndrome
- IVIC syndrome
- IWC