I
-
IAD
-
IAEP
-
IAHS
-
IAHSP
-
Iatrogenic botulism
-
IBA57 deficiency
-
IBM
-
IBM2
-
IBM3
-
IBMPFD
-
IBSN
-
IC/BPS
-
ICCA syndrome
-
I-cell disease
-
ICE syndrome
-
ICF syndrome
-
Ichthyosis
-
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
-
Ichthyosis bullosa of Siemens
-
Ichthyosis congenita, Harlequin type
-
Ichthyosis exfoliativa
-
Ichthyosis fetalis, Harlequin type
-
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
-
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
-
Ichthyosis follicularis-alopecia-photophobia syndrome
-
Ichthyosis follicularis-atrichia-photophobia syndrome
-
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
-
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
-
Ichthyosis-hypotrichosis syndrome
-
Ichthyosis hystrix Brocq type
-
Ichthyosis hystrix, Curth-Macklin type
-
Ichthyosis hystrix of Curth-Macklin
-
Ichthyosis hystrix Rheydt type
-
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
-
Ichthyosis-oral and digital anomalies syndrome
-
Ichthyosis-prematurity syndrome
-
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
-
Ichthyosis variegata
-
Ichthyosis with confetti
-
IC/PBS
-
IDH
-
IDI
-
IDI
-
idic(15)
-
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 anterior uveitis
-
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 CD4 lymphocytopenia
-
Idiopathic central precocious puberty
-
Idiopathic chronic eosinophilic pneumonia
-
Idiopathic congenital hypothyroidism
-
Idiopathic copper-associated cirrhosis
-
Idiopathic deciduous skin
-
Idiopathic disseminated CMV infection
-
Idiopathic disseminated cytomegalovirus infection
-
Idiopathic dropped head syndrome
-
Idiopathic ductopenia
-
Idiopathic eosinophilia-associated myopathy
-
Idiopathic eosinophilic myositis
-
Idiopathic eosinophilic pneumonia
-
Idiopathic gastroparesis
-
Idiopathic giant cell myocarditis
-
Idiopathic granulomatous mastitis
-
Idiopathic hemiconvulsion-hemiplegia syndrome
-
Idiopathic/heritable pulmonary arterial hypertension
-
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 osteolysis with or without nephropathy
-
Idiopathic myelofibrosis
-
Idiopathic neonatal atrial flutter
-
Idiopathic nephrotic syndrome
-
Idiopathic nodular panniculitis
-
Idiopathic obliterative arteriopathy
-
Idiopathic OPN
-
Idiopathic optic perineuritis
-
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
-
Idiopathic orthostatic hypotension
-
Idiopathic panuveitis
-
Idiopathic PAP
-
Idiopathic peliosis hepatis
-
Idiopathic peliosis hepatitis
-
Idiopathic phalangeal acroosteolysis
-
Idiopathic phalangeal acro-osteolysis
-
Idiopathic pleuroparenchymal fibroelastosis
-
Idiopathic pleuropulmonary fibroelastosis
-
Idiopathic posterior uveitis
-
Idiopathic progressive lumbar kyphosis
-
Idiopathic pulmonary alveolar proteinosis
-
Idiopathic pulmonary arterial hypertension
-
Idiopathic pulmonary artery dilatation
-
Idiopathic pulmonary fibrosis
-
Idiopathic pulmonary hemosiderosis
-
Idiopathic recurrent and disabling cutaneous herpes
-
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 spontaneous coronary artery dissection
-
Idiopathic steroid-sensitive nephrotic syndrome
-
Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
-
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis
-
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
-
Idiopathic steroid-sensitive nephrotic syndrome with minimal change
-
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
-
IDMDC
-
Iduronate 2-sulfatase deficiency
-
Iduronate 2-sulfatase deficiency type A
-
Iduronate 2-sulfatase deficiency type B
-
IED
-
Ieshima-Koeda-Inagaki syndrome
-
IFAH syndrome
-
IFAP syndrome
-
IFD
-
IgA pemphigus
-
IgA vasculitis
-
IGCM
-
IGDA
-
IGF-1 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 sialadenitis
-
IgG4-related submandibular gland disease
-
IgG4-related systemic disease
-
IgG4-related thyroid disease
-
IgG subclass deficiency with IgA subclass deficiency
-
Ig-mediated membranoproliferative glomerulonephritis
-
Ig-mediated MPGN
-
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
-
ILVEN
-
IMAGe syndrome
-
IMAM
-
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-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
-
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
-
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
-
Immune dysregulation with inflammatory bowel disease
-
Immune fetal edema
-
Immune fetal hydrops
-
Immune HF
-
Immune hydrops fetalis
-
Immune-mediated acquired neuromuscular junction disease
-
Immune-mediated necrotizing myopathy
-
Immune-mediated protracted diarrhea of infancy
-
Immune-mediated rippling muscle disease
-
Immune myopathy with myocyte necrosis
-
Immune pancytopenia
-
Immune thrombocytopenia
-
Immune thrombocytopenic purpura
-
Immunoblastic lymphadenopathy
-
Immunodeficiency-associated lymphoproliferative disease
-
Immunodeficiency by defective expression of MHC class I
-
Immunodeficiency by defective expression of MHC class II
-
Immunodeficiency-centromeric instability-facial anomalies syndrome
-
Immunodeficiency due to absence of thymus
-
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-microcephaly-chromosomal instability syndrome
-
Immunodeficiency predominantly affecting antibody production
-
Immunodeficiency-short limb dwarfism syndrome
-
Immunodeficiency syndrome with autoimmunity
-
Immunodeficiency syndrome with hypopigmentation
-
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
-
Immunoglobulin A vasculitis
-
Immunoglobulin G4-related sclerosing disease
-
Immunoglobulin heavy chain deficiency
-
Immunoglobulin-mediated membranoproliferative glomerulonephritis
-
Immunoglobulin-mediated MPGN
-
Immunologic neutropenia
-
Immuno-osseous dysplasia
-
Immunoproliferative small intestinal disease
-
Immunotactoid glomerulonephritis
-
Immunotactoid glomerulopathy
-
Immunotactoid or fibrillary glomerulonephritis
-
Immunotactoid or fibrillary glomerulopathy
-
IMNEPD
-
IMNM
-
Imperforate anus-hand, foot and ear anomalies syndrome
-
Imperforate oropharynx-costovertebral anomalies syndrome
-
Imploding antrum syndrome
-
INAD
-
INAD1
-
Inadvertent botulism
-
Incessant infant ventricular tachycardia
-
INCL
-
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 situs inversus
-
Incomplete unilateral aplasia of the Müllerian ducts
-
Incomplete unilateral Müllerian aplasia
-
Incontinentia pigmenti
-
Incontinentia pigmenti type 1
-
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
-
Infantile acrodynia
-
Infantile agranulocytosis
-
Infantile and juvenile forms of acromegaly
-
Infantile apnea
-
Infantile arteriosclerosis
-
Infantile Bartter syndrome with sensorineural deafness
-
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-dyskinetic encephalopathy
-
Infantile gigantism due to pituitary hyperplasia
-
Infantile glycine encephalopathy
-
Infantile GM1 gangliosidosis
-
Infantile GM2 gangliosidosis 0 variant
-
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 lobar hyperinflation
-
Infantile malignant osteopetrosis
-
Infantile mercury intoxication
-
Infantile mercury poisoning
-
Infantile multisystem neurologic-endocrine-pancreatic disease
-
Infantile myofibromatosis
-
Infantile NCL
-
Infantile nephronophthisis
-
Infantile neuroaxonal dystrophy
-
Infantile neuronal ceroid lipofuscinosis
-
Infantile NKH
-
Infantile non-ketotic hyperglycinemia
-
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 panniculitis with uveitis and systemic granulomatosis
-
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
-
Infantile onset spinocerebellar ataxia
-
Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
-
Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome
-
Infantile-onset X-linked spinal muscular atrophy
-
Infantile optic atrophy with chorea and spastic paraplegia
-
Infantile osteopetrosis with neuroaxonal dysplasia
-
Infantile phosphoethanolaminuria
-
Infantile Rathburn disease
-
Infantile Refsum disease
-
Infantile reversible cytochrome C oxidase deficiency myopathy
-
Infantile spasms
-
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 subacute necrotizing encephalopathy with leukodystrophy
-
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
-
Infantile systemic hyalinosis
-
Infantile tibia vara
-
Infantile xanthomatous cardiomyopathy
-
Infant intestinal botulism
-
Infant intestinal toxemia botulism
-
Infant intestinal toxin-mediated botulism
-
Infant-like botulism
-
Infant respiratory distress syndrome
-
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 epithelial keratitis
-
Infectious, fungal or parasitic myopathy
-
Infectious panuveitis
-
Infectious posterior uveitis
-
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 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/autoimmune disorder involving the lacrimal system
-
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 syndrome
-
Inflammatory pseudotumor of skeletal muscle
-
Inflammatory pseudotumor of the liver
-
Infundibulo-neurohypophysitis
-
Infundibulo-panhypophysitis
-
Inhalational anthrax
-
Inhalational botulism
-
Inhalation anthrax disease
-
Inhalation botulism
-
Inherited acute myeloid leukemia
-
Inherited AML
-
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 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 ichthyosis
-
Inherited ichthyosis syndromic form
-
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
-
Inherited nervous system cancer-predisposing syndrome
-
Inherited non-syndromic ichthyosis
-
Inherited prion disease
-
Inherited renal cancer-predisposing syndrome
-
Inherited retinal disorder
-
Inherited zinc deficiency
-
Iniencephaly
-
Inoculation botulism
-
Insulin autoimmune syndrome
-
Insulinoma
-
Insulin-resistance syndrome type A
-
Insulin-resistance syndrome type B
-
Integrinopathy
-
Intellectual disability-alacrima-achalasia syndrome
-
Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
-
Intellectual disability associated with fragile site FRAXE
-
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
-
Intellectual disability-balding-patella luxation-acromicria syndrome
-
Intellectual disability, Birk-Barel type
-
Intellectual disability-brachydactyly-Pierre Robin syndrome
-
Intellectual disability, Buenos-Aires type
-
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
-
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
-
Intellectual disability-cataracts-kyphosis syndrome
-
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
-
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
-
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
-
Intellectual disability-developmental delay-contractures syndrome
-
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
-
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
-
Intellectual disability-epilepsy-bulbous nose 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-hand anomalies syndrome
-
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
-
Intellectual disability-feeding difficulties-developmental delay-microcephaly 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-hypsarrhythmia 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, Mietens-Weber type
-
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-severe speech delay-mild dysmorphism syndrome
-
Intellectual disability-short stature-hand contractures-genital anomalies syndrome
-
Intellectual disability-short stature-hypertelorism syndrome
-
Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome
-
Intellectual disability-sparse hair-brachydactyly syndrome
-
Intellectual disability-spasticity-ectrodactyly syndrome
-
Intellectual disability-strabismus syndrome
-
Intellectual disability syndrome due to a DYRK1A point mutation
-
Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
-
Intellectual disability-truncal obesity syndrome
-
Intellectual disability, Wolff type
-
Interatrial communication
-
Interauricular communication
-
Intercalary limb defects
-
Intercalary meromelia
-
Intercostal nerve syndrome
-
Interdigitating cell sarcoma
-
Interdigitating dendritic cell sarcoma
-
Interleukin-1 receptor antagonist deficiency
-
Interleukin-2 receptor alpha chain deficiency
-
Intermediate BCKD deficiency
-
Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
-
Intermediate Charcot-Marie-Tooth disease
-
Intermediate cystinosis
-
Intermediate DEND syndrome
-
Intermediate hereditary motor and sensory neuropathy
-
Intermediate isolated anorectal malformation
-
Intermediate lichen myxedematosus
-
Intermediate maple syrup urine disease
-
Intermediate MSUD
-
Intermediate nemaline myopathy
-
Intermediate osteopetrosis
-
Intermediate severe Salla disease
-
Intermediate spinal muscular atrophy
-
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 agenesis
-
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
-
Interventricular septum aneurysm
-
Intestinal atresia type IIIb
-
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
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Intestinal toxemia botulism
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Intestinal toxin-mediated botulism
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Intoxication botulism
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Intracranial arteriovenous malformation
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Intracranial endodermal sinus tumor
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Intracranial yolk sac tumor
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Intractable diarrhea-choanal atresia-eye anomalies syndrome
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Intractable diarrhea of infancy
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Intraductal papillary mucinous carcinoma of pancreas
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Intrahepatic bile duct cystadenocarcinoma
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Intrahepatic cholestasis of pregnancy
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Intralobar congenital bronchopulmonary sequestration
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Intralobar congenital pulmonary sequestration
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Intraneural perineurioma
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Intraocular medulloepithelioma
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Intraosseous hemangioma
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Intrauterine adhesions
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Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
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Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
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Intrauterine synechiae
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Intravascular large B-cell lymphoma
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Intravascular lymphomatosis
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Intrinsic factor deficiency
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iNTS disease
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Invasive candidiasis-deep dermatophytosis syndrome
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Invasive infections due to vancomycin-resistant enterococci
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Invasive infections due to VRE
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Invasive mole
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Invasive non-typhoidal salmonella disease
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Invasive non-typhoidal salmonellosis
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Invdup(15)
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Invdupdel(8p)
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Inverse JEB
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Inverse Klippel-Trénaunay syndrome
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Inverse Marcus-Gunn phenomenon
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Inverse RDEB
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Inverse recessive dystrophic epidermolysis bullosa
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Inverted 8p duplication/deletion syndrome
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Inverted smile-neurogenic bladder syndrome
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IOMID syndrome
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ION
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IOSCA
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IPAH
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iPAP
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IPD
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IPEX
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IPPFE
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Ipp-Gelfand syndrome
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IPS
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IPSID
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IQSEC2-related syndromic intellectual disability
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IRAK4 deficiency
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IRD
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IRIDA syndrome
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Iridocorneal endothelial syndrome
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Iridocyclitis
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Irinotecan toxicity
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Iris melanoma
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Iron overload disease
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Iron-refractory iron deficiency anemia
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Irons-Bhan syndrome
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Irons-Bianchi syndrome
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Iron-sulfur cluster deficiency myopathy
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IRVAN syndrome
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Isaac-Mertens syndrome
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Isaac syndrome
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Ischiopatellar dysplasia
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Ischiospinal dysostosis
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Ischiovertebral dysplasia
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Ischiovertebral syndrome
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ISCU myopathy
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Isobutyric aciduria
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Isobutyryl-CoA dehydrogenase deficiency
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Isochromosome 12p mosaicism
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Isochromosome 12p syndrome
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Isochromosome 18p
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Isochromosome 21
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Isochromosome 5p
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Isochromosome 9p
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Isochromosome Y
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Isochromosomy Yp
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Isochromosomy Yq
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ISOD
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Isodicentric 15 chromosome
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Iso-Kikuchi syndrome
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Isolated absence of encephalon
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Isolated acute necrotizing encephalopathy
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Isolated agammaglobulinemia
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Isolated agenesis of gallbladder
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Isolated amyelia
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Isolated ANE
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Isolated anencephaly
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Isolated anencephaly/exencephaly
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Isolated angiitis of the central nervous system
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Isolated aniridia
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Isolated ankyloblepharon filiforme adnatum
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Isolated anonychia
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Isolated anophthalmia-microphthalmia syndrome
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Isolated anorectal malformation
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Isolated anterior cervical hypertrichosis
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Isolated apertura pyriformis stenosis
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Isolated arhinencephaly
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Isolated arrhinia
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Isolated asymmetric crying facies
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Isolated asymptomatic elevation of creatine phosphokinase
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Isolated asymptomatic hyperCKemia
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Isolated ATP synthase deficiency
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Isolated atresia of bile ducts
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Isolated autosomal dominant hypomagnesemia
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Isolated autosomal dominant hypomagnesemia, Glaudemans type
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Isolated bilateral hemispheric cerebellar hypoplasia
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Isolated biliary atresia
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Isolated blepharochalasis
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Isolated bone marrow mastocytosis
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Isolated brachycephaly
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Isolated cerebellar agenesis
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Isolated cerebellar vermis agenesis
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Isolated cerebellar vermis hypoplasia
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Isolated CHF
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Isolated chorioretinal dystrophy
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Isolated cleft lip
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Isolated cleft of the ala nasi
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Isolated cloverleaf skull syndrome
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Isolated coenzyme Q-cytochrome C reductase deficiency
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Isolated coloboma of the nose
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Isolated complex I deficiency
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Isolated complex III deficiency
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Isolated congenital acropachy
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Isolated congenital adermatoglyphia
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Isolated congenital aglossia
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Isolated congenital alacrima
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Isolated congenital amastia
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Isolated congenital anonychia
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Isolated congenital anosmia
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Isolated congenital auditory ossicle malformation
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Isolated congenital breast hypoplasia/aplasia
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Isolated congenital controlateral synkinesia
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Isolated congenital digital clubbing
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Isolated congenital ectropion
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Isolated congenital elbow dislocation
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Isolated congenital entropion
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Isolated congenital gonadotropin deficiency
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Isolated congenital hepatic fibrosis
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Isolated congenital hypoglossia
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Isolated congenital hypoglossia/aglossia
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Isolated congenital hypogonadotropic hypogonadism
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Isolated congenitally uncorrected transposition of the great arteries
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Isolated congenitally uncorrected transposition of the great vessels
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Isolated congenital maxillomandibular fusion
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Isolated congenital megalocornea
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Isolated congenital microcephaly
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Isolated congenital mirror movements
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Isolated congenital nail clubbing
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Isolated congenital nasal pyriform aperture stenosis
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Isolated congenital onychodysplasia
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Isolated congenital radial head dislocation
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Isolated congenital sclerocornea
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Isolated congenital syngnathia
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Isolated constitutional thrombocytopenia
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Isolated CoQ-cytochrome C reductase deficiency
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Isolated COX deficiency
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Isolated craniosynostosis
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Isolated cryptophthalmia
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Isolated cytochrome C oxidase deficiency
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Isolated Dandy-Walker malformation
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Isolated Dandy-Walker malformation with hydrocephalus
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Isolated Dandy-Walker malformation without hydrocephalus
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Isolated delta-SPD
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Isolated delta-storage pool disease
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Isolated dense-SPD
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Isolated dense-storage pool disease
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Isolated diffuse keratosis palmoplantaris
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Isolated diffuse palmoplantar hyperkeratosis
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Isolated diffuse palmoplantar keratoderma
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Isolated diffuse PPK
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Isolated distichiasis
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Isolated dolichocephaly
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Isolated dystonia
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Isolated ectopia lentis
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Isolated encephalocele
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Isolated epispadias
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Isolated exencephaly
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Isolated facial myokymia
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Isolated focal cortical dysplasia
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Isolated focal cortical dysplasia type 2
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Isolated focal cortical dysplasia type I
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Isolated focal cortical dysplasia type Ia
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Isolated focal cortical dysplasia type Ib
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Isolated focal cortical dysplasia type Ic
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Isolated focal cortical dysplasia type II
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Isolated focal cortical dysplasia type IIa
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Isolated focal cortical dysplasia type IIb
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Isolated focal keratosis palmoplantaris
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Isolated focal non-epidermolytic palmoplantar keratoderma
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Isolated focal palmoplantar hyperkeratosis
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Isolated focal palmoplantar keratoderma
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Isolated focal PPK
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Isolated follicle stimulating hormone deficiency
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Isolated foveal hypoplasia
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Isolated FSH deficiency
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Isolated generalized anhidrosis with normal sweat glands
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Isolated genetic deafness
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Isolated glycerol kinase deficiency
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Isolated growth hormone deficiency type IA
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Isolated growth hormone deficiency type IB
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Isolated growth hormone deficiency type II
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Isolated growth hormone deficiency type III
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Isolated hair shaft abnormality
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Isolated hemihyperplasia
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Isolated hemihypertrophy
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Isolated hereditary congenital facial paralysis
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Isolated hereditary giant platelet disorder
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Isolated hereditary macrothrombocytopenia
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Isolated hyperchlorhidrosis
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Isolated hypogammaglobulinemia
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Isolated IgG subclass deficiency
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Isolated inherited giant platelet disorder
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Isolated inherited macrothrombocytopenia
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Isolated inherited retinal disorder
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Isolated iridoschisis
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Isolated Klippel-Feil syndrome
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Isolated levocardia
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Isolated lissencephaly type 1 without known genetic defects
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Isolated macrencephaly
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Isolated macular dystrophy
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Isolated median cleft face syndrome
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Isolated megalencephaly
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Isolated megalopapilla
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Isolated mesenteric lipodystrophy
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Isolated microphakia
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Isolated microphthalmia-anophthalmia-coloboma
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Isolated microspherophakia
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Isolated mitochondrial neurosensory deafness
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Isolated mitochondrial respiratory chain complex I deficiency
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Isolated mitochondrial respiratory chain complex II deficiency
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Isolated mitochondrial respiratory chain complex III deficiency
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Isolated mitochondrial respiratory chain complex IV deficiency
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Isolated mitochondrial respiratory chain complex V deficiency
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Isolated mitochondrial sensorineural deafness
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Isolated NADH-coenzyme Q reductase deficiency
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Isolated NADH-CoQ reductase deficiency
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Isolated NADH-ubiquinone reductase deficiency
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Isolated nail anomaly
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Isolated nasal pyriform aperture hypoplasia
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Isolated neck extensor myopathy
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Isolated neonatal sclerosing cholangitis
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Isolated nose agenesis
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Isolated optic nerve hypoplasia/aplasia
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Isolated optic neuritis
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Isolated osteopoikilosis
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Isolated oxidative phosphorylation complex disorder
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Isolated oxycephaly
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Isolated partial cerebellar vermis agenesis
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Isolated partial vaginal agenesis
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Isolated Pierre Robin sequence
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Isolated Pierre Robin syndrome
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Isolated plagiocephaly
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Isolated polycystic liver disease
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Isolated polythelia
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Isolated postlingual genetic deafness
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Isolated prelingual genetic deafness
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Isolated progressive inherited retinal disorder
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Isolated prothyroliberin deficiency
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Isolated protirelin deficiency
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Isolated pulmonary capillaritis
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Isolated punctate palmoplantar hyperkeratosis
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Isolated punctate palmoplantar keratoderma
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Isolated punctate PPK
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Isolated renal magnesium wasting
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Isolated respiratory chain complex disorder
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Isolated right ventricular hypoplasia
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Isolated scaphocephaly
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Isolated SCCH
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Isolated sedoheptulokinase deficiency
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Isolated SHPK deficiency
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Isolated spina bifida
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Isolated splenogonadal fusion
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Isolated split hand-split foot malformation
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Isolated stationary inherited retinal disorder
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Isolated sternocostoclavicular hyperostosis
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Isolated succinate-coenzyme Q reductase deficiency
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Isolated succinate-CoQ reductase deficiency
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Isolated succinate-ubiquinone reductase deficiency
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Isolated sulfite oxidase deficiency
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Isolated thyroid-stimulating hormone deficiency
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Isolated thyroliberin deficiency
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Isolated thyrotropin deficiency
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Isolated thyrotropin-releasing factor deficiency
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Isolated thyrotropin-releasing hormone deficiency
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Isolated total cerebellar vermis agenesis
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Isolated tracheoesophageal fistula
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Isolated trehalose intolerance
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Isolated TRF deficiency
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Isolated TRH deficiency
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Isolated trigonocephaly
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Isolated TSH deficiency
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Isolated TSH-releasing factor deficiency
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Isolated ubiquinone-cytochrome C reductase deficiency
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Isolated unilateral hemispheric cerebellar hypoplasia
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Isolated ventriculoarterial discordance
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Isolated vitamin E deficiency
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Isolated vitreoretinopathy
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Isoniazid toxicity
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Isosporiasis
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Isotretinoin embryopathy
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Isotretinoin-like syndrome
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Isotretinoin syndrome
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Isovaleric acid CoA dehydrogenase deficiency
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Isovaleric acidemia
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ISSD
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ITK deficiency
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ITM2B amyloidosis
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ITM2B-related amyloidosis
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ITM2B-related cerebral amyloid angiopathy
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ITP
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ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
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IU
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IVC interruption
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Ivemark II syndrome
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Ivemark syndrome
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IVIC syndrome
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IWC