FANDOM


Ia glycogenosis [↗]
Iatrogenic botulism [↗]
Iatrogenic Cushing syndrome [↗]
Ib glycogenosis [↗]
IBIDS syndrome [↗]
IBM2 [↗]
IBM3 [↗]
IBMPFD [↗]
IBSN [↗]
ICCA syndrome [↗]
I-cell disease [↗]
ICE syndrome [↗]
ICF syndrome [↗]
Ichthyiosis, Lambert type [↗]
Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit [↗]
Ichthyosis-cheek-eyebrow syndrome [↗]
Ichthyosis congenita - biliary atresia [↗]
Ichthyosis congenita, harlequin type [↗]
Ichthyosis Curth-Macklin [↗]
Ichthyosis exfoliativa [↗]
Ichthyosis follicularis - alopecia - photophobia [↗]
Ichthyosis follicularis - atrichia - photophobia [↗]
Ichthyosis - hepatosplenomegaly - cerebellar degeneration [↗]
Ichthyosis - hypotrichosis - sclerosing cholangitis [↗]
Ichthyosis hypotrichosis syndrome [↗]
Ichthyosis hystrix [↗]
Ichthyosis hystrix, Curth-Macklin type [↗]
Ichthyosis hystrix gravior [↗]
Ichthyosis - intellectual deficit - dwarfism - renal impairment [↗]
Ichthyosis - male hypogonadism [↗]
Ichthyosis microphthalmos [↗]
Ichthyosis - oral and digital anomalies [↗]
Ichthyosis prematurity syndrome [↗]
Ichthyosis variegata [↗]
Ichthyosis with confetti [↗]
IDI [↗]
idic(15) [↗]
Idiopathic achalasia [↗]
Idiopathic acquired central diabetes insipidus [↗]
Idiopathic acquired sideroblastic anemia [↗]
Idiopathic acute eosinophilic pneumonia [↗]
Idiopathic acute transverse myelitis [↗]
Idiopathic and/or familial pulmonary arterial hypertension [↗]
Idiopathic anterior uveitis [↗]
Idiopathic aplastic anemia [↗]
Idiopathic basal ganglia calcification [↗]
Idiopathic bilateral vestibulopathy [↗]
Idiopathic bile acid malabsorption [↗]
Idiopathic bronchiectasis [↗]
Idiopathic CD4 lymphocytopenia [↗]
Idiopathic chronic eosinophilic pneumonia [↗]
Idiopathic congenital hypothyroidism [↗]
Idiopathic copper-associated cirrhosis [↗]
Idiopathic cutaneous and mucosal candidiasis [↗]
Idiopathic dystonia [↗]
Idiopathic eosinophilic myositis [↗]
Idiopathic facial palsy [↗]
Idiopathic granulomatous mastitis [↗]
Idiopathic hydrops fetalis [↗]
Idiopathic hypercalciuria [↗]
Idiopathic hypereosinophilic syndrome [↗]
Idiopathic hypersomnia [↗]
Idiopathic hypersomnia with long sleep time [↗]
Idiopathic hypersomnia without long sleep time [↗]
Idiopathic immunoglobulin deficiency [↗]
Idiopathic infantile arterial calcification [↗]
Idiopathic infantile hypercalcemia [↗]
Idiopathic infection caused by BCG or atypical mycobacteria [↗]
Idiopathic infection disseminated by cytomegalovirus [↗]
Idiopathic intracranial hypertension [↗]
Idiopathic juvenile-onset systemic arthritis [↗]
Idiopathic juvenile osteoporosis [↗]
Idiopathic lobular panniculitis [↗]
Idiopathic malabsorption due to bile acid synthesis defects [↗]
Idiopathic massive osteolysis [↗]
Idiopathic membranous glomerulonephritis [↗]
Idiopathic multicentric osteolysis with or without nephropathy [↗]
Idiopathic myelofibrosis [↗]
Idiopathic neonatal atrial flutter [↗]
Idiopathic nodular panniculitis [↗]
Idiopathic nonhistaminergic acquired angioedema [↗]
Idiopathic nonhistaminergic angioneurotic edema [↗]
Idiopathic obliterative arteriopathy [↗]
Idiopathic orthostatic hypotension [↗]
Idiopathic panuveitis [↗]
Idiopathic PAP [↗]
Idiopathic parkinsonism plus dementia [↗]
Idiopathic posterior uveitis [↗]
Idiopathic pulmonary alveolar proteinosis [↗]
Idiopathic pulmonary arterial hypertension [↗]
Idiopathic pulmonary fibrosis [↗]
Idiopathic pulmonary hemosiderosis [↗]
Idiopathic recurrent and disabling cutaneous herpes [↗]
Idiopathic recurrent pericarditis [↗]
Idiopathic recurrent stupor [↗]
Idiopathic relapsing pericarditis [↗]
Idiopathic retinal-aneurysms-neuroretinitis syndrome [↗]
Idiopathic severe pneumococcemia [↗]
Idiopathic short stature [↗]
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 thrombocytopenic purpura [↗]
Idiopathic torsion dystonia [↗]
Idiopathic torsion dystonia of mixed type [↗]
Idiopathic uveal effusion syndrome [↗]
Idiopathic ventricular fibrillation, Brugada type [↗]
Idiopathic ventricular fibrillation, not Brugada type [↗]
IDMDC [↗]
Iduronate 2-sulfatase deficiency [↗]
Iduronate 2-sulfatase deficiency type A [↗]
Iduronate 2-sulfatase deficiency type B [↗]
IED [↗]
IFAP syndrome [↗]
IFD [↗]
IgA1 deficiency [↗]
IgA2 deficiency [↗]
IGDA [↗]
IGF-1 deficiency [↗]
IgG subclass deficiency with IgA subclass deficiency [↗]
IHSC [↗]
IIH [↗]
Ileal pouch anal anastomosis related faecal incontinence [↗]
Illum syndrome [↗]
IMAGe syndrome [↗]
Imaizumi-Kuroki syndrome [↗]
IMAM [↗]
Iminoglycinuria [↗]
Immotile cilia syndrome [↗]
Immotile cilia syndrome, Kartagener type [↗]
Immune dysfunction due to T-cell inactivation due to calcium entry defect [↗]
Immune-mediated necrotizing myopathy [↗]
Immune-mediated protracted diarrhea of infancy [↗]
Immune-mediated rippling muscle disease [↗]
Immune thrombocytopenia [↗]
Immune thrombocytopenic purpura [↗]
Immunodeficiency by defective expression of HLA class 1 [↗]
Immunodeficiency by defective expression of HLA class 2 [↗]
Immunodeficiency - centromeric instability - facial anomalies [↗]
Immunodeficiency due to absence of thymus [↗]
Immunodeficiency due to a C1, C4, or C2 component complement deficiency [↗]
Immunodeficiency due to a C5 to C9 component complement deficiency [↗]
Immunodeficiency due to a late component of complements deficiency [↗]
Immunodeficiency due to an early component of complement deficiency [↗]
Immunodeficiency due to CD25 deficiency [↗]
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency [↗]
Immunodeficiency due to selective anti-polysaccharide antibody deficiency [↗]
Immunodeficiency - microcephaly - chromosomal instability [↗]
Immunodeficiency with factor H anomaly [↗]
Immunodeficiency with factor I anomaly [↗]
Immunodeficiency with natural-killer cell deficiency [↗]
Immunodeficiency with short limb dwarfism [↗]
Immunoglobulin A1 deficiency [↗]
Immunoglobulin A2 deficiency [↗]
Immunoglobulin heavy chain deficiency [↗]
Immunoglobulinic amyloidosis [↗]
Immunoproliferative small intestinal disease [↗]
Immunotactoid glomerulopathy [↗]
Immunotactoid or fibrillary glomerulonephritis [↗]
Immunotactoid or fibrillary glomerulopathy [↗]
Imperforate oropharynx - costo vetebral anomalies [↗]
Imploding antrum syndrome [↗]
Impossible syndrome [↗]
INAD [↗]
INAD1 [↗]
Inadvertent botulism [↗]
Inappropriate antidiuretic hormone secretion syndrome [↗]
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 [↗]
Incomplete situs inversus [↗]
Incomplete unilateral aplasia of the Müllerian duct [↗]
Incontinentia pigmenti [↗]
Incontinentia pigmenti type 1 [↗]
Incontinentia pigmenti type 2 [↗]
Indeterminate cell histiocytosis [↗]
Indian tick typhus [↗]
Indolent systemic mastocytosis [↗]
Indomethacin embryofetopathy [↗]
Infant acute respiratory distress syndrome [↗]
Infant ARDS [↗]
Infant botulism [↗]
Infant epilepsy with migrant focal crisis [↗]
Infantile acrodynia [↗]
Infantile and juvenile forms of acromegaly [↗]
Infantile apnea [↗]
Infantile arteriosclerosis [↗]
Infantile autosomal recessive medullary cystic kidney disease [↗]
Infantile axonal neuropathy [↗]
Infantile Bartter syndrome with deafness [↗]
Infantile bilateral striatal necrosis [↗]
Infantile botulism [↗]
Infantile cardiomyopathy with histiocytoid change [↗]
Infantile cellular interstitial pneumonitis [↗]
Infantile cerebral Gaucher disease [↗]
Infantile choroido cerebral calcification syndrome [↗]
Infantile convulsions and choreoathetosis [↗]
Infantile digital fibromatosis [↗]
Infantile dysmorphic sialidosis [↗]
Infantile dystonia-parkinsonism [↗]
Infantile hypophosphatasia [↗]
Infantile juvenile polyposis syndrome [↗]
Infantile Krabbe disease [↗]
Infantile malignant osteopetrosis [↗]
Infantile mercury intoxication [↗]
Infantile mercury poisoning [↗]
Infantile myofibromatosis [↗]
Infantile NCL [↗]
Infantile neuroaxonal dystrophy [↗]
Infantile neuronal ceroid lipofuscinosis [↗]
Infantile Onset Multisystem Inflammatory Disease [↗]
Infantile onset panniculitis with uveitis and systemic granulomatosis [↗]
Infantile onset spinocerebellar ataxia [↗]
infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness [↗]
Infantile optic atrophy with chorea and spastic paraplegia [↗]
Infantile osteopetrosis with neuroaxonal dysplasia [↗]
Infantile phosphoethanolaminuria [↗]
Infantile Rathburn disease [↗]
Infantile Refsum disease [↗]
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease [↗]
Infantile spasms [↗]
Infantile spasms - broad thumbs [↗]
Infantile spinal muscular atrophy [↗]
Infantile striatonigral degeneration [↗]
Infantile striatonigral necrosis [↗]
Infantile striato thalamic degeneration [↗]
Infantile subacute necrotizing encephalopathy [↗]
Infantile subacute necrotizing encephalopathy with leukodystrophy [↗]
Infantile subacute necrotizing encephalopathy with nephrotic syndrome [↗]
Infantile symmetrical thalamic degeneration [↗]
Infantile systemic hyalinosis [↗]
Infantile thalamic degenerescence [↗]
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 [↗]
Infectious epithelial keratitis [↗]
Inferior caval vein interruption [↗]
Inferior vena cava interruption [↗]
Inflammatory amyloidosis [↗]
Inflammatory myofibroblastic tumor [↗]
Inflammatory myoglandular polyps [↗]
Inflammatory myopathy with abundant macrophages [↗]
Inflammatory pseudotumor of the liver [↗]
Infundibulo-neurohypophysitis [↗]
Infundibulo-panhypophysitis [↗]
Infundibulopelvic stenosis - multicystic kidney [↗]
Inhalational botulism [↗]
Inhalation anthrax disease [↗]
Inhalation botulism [↗]
Inherited congenital spastic tetraplegia [↗]
Inherited estrogen-associated angioedema [↗]
Inherited estrogen-associated angioneurotic edema [↗]
Inherited estrogen-dependent angioedema [↗]
Inherited estrogen-dependent angioneurotic edema [↗]
Inherited predisposition to essential thrombocythemia [↗]
Iniencephaly [↗]
Inoculation botulism [↗]
Insensitivity to pain - anhidrosis [↗]
Insulinoma [↗]
Insulin-resistance syndrome type A [↗]
Insulin-resistance syndrome type B [↗]
Insuloma [↗]
Intellectual deficit - aphasia - shuffling gait - adducted thumb [↗]
Intellectual deficit associated with fragile site FRAXE [↗]
Intellectual deficit - athetosis- microphthalmia [↗]
Intellectual deficit - balding - patella luxation - acromicria [↗]
Intellectual deficit, Birk-Barel type [↗]
Intellectual deficit, Buenos-Aires type [↗]
Intellectual deficit - cataract - coloboma - kyphosis [↗]
Intellectual deficit - cataracts - calcified pinnae - myopathy [↗]
Intellectual deficit - cataracts - kyphosis [↗]
Intellectual deficit - coloboma - slimness [↗]
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus [↗]
Intellectual deficit - dysmorphism - intrauterine growth retardation [↗]
Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia [↗]
Intellectual deficit - epilepsy - bulbous nose [↗]
Intellectual deficit - hypocupremia - hypobetalipoproteinemia [↗]
Intellectual deficit - hypoplastic corpus callosum - preauricular tag [↗]
Intellectual deficit - hypotonia - facial dysmorphism [↗]
Intellectual deficit - hypotonia - skin hyperpigmentation [↗]
Intellectual deficit - hypsarrhythmia [↗]
Intellectual deficit, Kahrizi type [↗]
Intellectual deficit - macrocephaly - coarse facies - hypotonia [↗]
Intellectual deficit - microcephaly - phalangeal - facial abnormalities [↗]
Intellectual deficit - microcephaly - unusual facies [↗]
Intellectual deficit, Mietens-Weber type [↗]
Intellectual deficit - myopathy - short stature - endocrine defect [↗]
Intellectual deficit - nasal papillomata [↗]
Intellectual deficit - polydactyly - uncombable hair [↗]
Intellectual deficit - short broad thumbs [↗]
Intellectual deficit - short stature - hand contractures - genital anomalies [↗]
Intellectual deficit - short stature - hypertelorism [↗]
Intellectual deficit - short stature - wedge shaped epiphyses of knees [↗]
Intellectual deficit - sparse hair - brachydactyly [↗]
Intellectual deficit - spasticity - ectrodactyly [↗]
Intellectual deficit - truncal obesity - retinal dystrophy - micropenis [↗]
Intellectual deficit - unusual facies [↗]
Intellectual deficit-unusual facies, Davis-Lafer type [↗]
Intellectual deficit - unusual facies - talipes - hand anomalies [↗]
Intellectual deficit, Wolff type [↗]
Intellectual deficit, X-linked, Abidi type [↗]
Intellectual deficit, X-linked - acromegaly - hyperactivity [↗]
Intellectual deficit, X-linked, Armfield type [↗]
Intellectual deficit, X-linked, Brooks type [↗]
Intellectual deficit, X-linked, Cantagrel type [↗]
Intellectual deficit, X-linked - cerebellar hypoplasia [↗]
Intellectual deficit, X-linked - choreoathetosis - abnormal behavior [↗]
Intellectual deficit, X-linked, Cilliers type [↗]
Intellectual deficit, X-linked - corpus callosum agenesis - spastic quadriparesis [↗]
Intellectual deficit, X-linked - craniofacioskeletal syndrome [↗]
Intellectual deficit, X-linked - cubitus valgus - dysmorphism [↗]
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures [↗]
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy [↗]
Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism [↗]
Intellectual deficit, X-linked, Fichera type [↗]
Intellectual deficit, X-linked, Gu type [↗]
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration [↗]
Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature [↗]
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior [↗]
Intellectual deficit, X-linked - hypotonic face [↗]
Intellectual deficit, X-linked, Kroes type [↗]
Intellectual deficit, X-linked, Lubs type [↗]
Intellectual deficit, X-linked - macrocephaly - macro-orchidism [↗]
Intellectual deficit, X-linked, Martinez type [↗]
Intellectual deficit, X-linked, Miles-Carpenter type [↗]
Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly [↗]
Intellectual deficit, X-linked, Nascimento type [↗]
Intellectual deficit, X-linked, Pai type [↗]
Intellectual deficit, X-linked - plagiocephaly [↗]
Intellectual deficit, X-linked, Porteous type [↗]
Intellectual deficit, X-linked - precocious puberty - obesity [↗]
Intellectual deficit, X-linked - psychosis - macroorchidism [↗]
Intellectual deficit, X-linked, Raymond type [↗]
Intellectual deficit, X-linked, Raynaud type [↗]
Intellectual deficit, X-linked, Reish type [↗]
Intellectual deficit, X-linked - retinitis pigmentosa [↗]
Intellectual deficit, X-linked, Schimke type [↗]
Intellectual deficit, X-linked, Schutz type [↗]
Intellectual deficit, X-linked, Seemanova type [↗]
Intellectual deficit, X-linked - seizures - psoriasis [↗]
Intellectual deficit, X-linked, Shashi type [↗]
Intellectual deficit, X-linked - short stature - obesity [↗]
Intellectual deficit, X-linked, Shrimpton type [↗]
Intellectual deficit, X-linked, Siderius type [↗]
Intellectual deficit, X-linked, Snyder type [↗]
Intellectual deficit, X-linked, South African type [↗]
Intellectual deficit, X-linked - Spastic paraplegia with iron deposits [↗]
Intellectual deficit, X-linked - spastic quadriparesis [↗]
Intellectual deficit, X-linked, Stevenson type [↗]
Intellectual deficit, X-linked, Stocco Dos Santos type [↗]
Intellectual deficit, X-linked, Turner type [↗]
Intellectual deficit, X-linked, Van Esch type [↗]
Intellectual deficit, X-linked, Vitale type [↗]
Intellectual deficit, X-linked, Wei type [↗]
Intellectual deficit, X-linked, Wilson type [↗]
Intellectual deficit, X-linked, Wittner type [↗]
Intellectual deficit, X-linked, Wittwer type [↗]
Intellectual deficit, X-linked, Zorick type [↗]
Interauricular communication [↗]
Intercostal nerve syndrome [↗]
Interdigitating cell sarcoma [↗]
Interdigitating dendritic cell sarcoma [↗]
Interferon gamma receptor 1 deficiency [↗]
Interleukin-1 receptor antagonist deficiency [↗]
Interleukin-2 receptor alpha chain deficiency [↗]
Intermediate BCKD deficiency [↗]
Intermediate branched-chain ketoacid dehydrogenase deficiency [↗]
Intermediate branched-chain ketoaciduria [↗]
Intermediate DEND syndrome [↗]
Intermediate leucinosis [↗]
Intermediate maple syrup urine disease [↗]
Intermediate MSUD [↗]
Intermediate nemaline myopathy [↗]
Intermediate osteopetrosis [↗]
Intermediate spinal muscular atrophy [↗]
Intermittent BCKD deficiency [↗]
Intermittent branched-chain ketoacid dehydrogenase deficiency [↗]
Intermittent branched-chain ketoaciduria [↗]
Intermittent leucinosis [↗]
Intermittent maple syrup urine disease [↗]
Intermittent MSUD [↗]
Intermittent neutropenia [↗]
Internal carotid agenesis [↗]
Interstitial cystitis [↗]
Interstitial granulomatous dermatitis with arthritis [↗]
Interventricular communication [↗]
Interventricular septum aneurysm [↗]
Intestinal botulism [↗]
Intestinal colonization botulism [↗]
Intestinal epithelial dysplasia [↗]
Intestinal hypomagnesemia with secondary hypocalcemia [↗]
Intestinal lipodystrophy [↗]
Intestinal lipophagic granulomatosis [↗]
Intestinal lymphangiectasia [↗]
Intestinal polyposis - cutaneous pigmentation syndrome [↗]
Intestinal T-cell lymphoma [↗]
Intestinal toxemia botulism [↗]
Intestinal toxin-mediated botulism [↗]
Intoxication botulism [↗]
Intracranial aneurysms - multiple congenital anomalies [↗]
Intracranial arteriovenous malformation [↗]
Intracranial embryonal carcinoma [↗]
Intracranial endodermal sinus tumor [↗]
Intracranial germinoma [↗]
Intracranial yolk sac tumor [↗]
Intractable diarrhea - choanal atresia - eye anomalies [↗]
Intractable diarrhea of infancy [↗]
Intrahepatic cholestasis of pregnancy [↗]
Intralobar congenital bronchopulmonary sequestration [↗]
Intralobar congenital pulmonary sequestration [↗]
Intramural coronary arterial course [↗]
Intraneural perineurioma [↗]
Intraocular medulloepithelioma [↗]
Intraosseous hemangioma [↗]
Intrauterine adhesions [↗]
Intrauterine growth retardation - mandibular malar hypoplasia [↗]
Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies [↗]
Intravascular large B-cell lymphoma [↗]
Intrinsic factor deficiency [↗]
Invasive infections due to Vancomycin Resistant Enterococci [↗]
Invasive infections due to VRE [↗]
Invasive mole [↗]
Inv dup(15) [↗]
Inverse Marcus-Gunn phenomenon [↗]
Inverted smile - neurogenic bladder [↗]
IOMID syndrome [↗]
IOSCA [↗]
IPAH [↗]
IPEX [↗]
IPS [↗]
IPSID [↗]
IRAK4 deficiency [↗]
IRIDA syndrome [↗]
Iridocorneal endothelial syndrome [↗]
Iris coloboma with ptosis - intellectual deficit [↗]
Iris dysplasia - hypertelorism - deafness [↗]
Iris melanoma [↗]
Iron-refractory iron deficiency anemia [↗]
Irons-Bhan syndrome [↗]
IRVAN syndrome [↗]
Isaacs-Mertens syndrome [↗]
Isaac's syndrome [↗]
Ischemia/perfusion injury associated with solid organ transplantation procedure [↗]
Ischiopatellar dysplasia [↗]
Ischio-spinal dysostosis [↗]
Ischio-vertebral dysplasia [↗]
Ischio-vertebral 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 15 chromosome [↗]
Iso-Kikuchi syndrome [↗]
Isolated acute necrotizing encephalopathy [↗]
Isolated agammaglobulinemia [↗]
Isolated amastia [↗]
Isolated amyelia [↗]
Isolated ANE [↗]
Isolated anencephaly/exencephaly [↗]
Isolated angiitis of the central nervous system [↗]
Isolated aniridia [↗]
Isolated ankyloblepharon filiforme adnatum [↗]
Isolated anophthalmia - microphthalmia [↗]
Isolated anorectal malformation [↗]
Isolated anterior cervical hypertrichosis [↗]
Isolated apertura pyriformis stenosis [↗]
Isolated arhinencephaly [↗]
Isolated ATP synthase deficiency [↗]
Isolated autosomal dominant hypomagnesemia, Glaudemans type [↗]
Isolated bilateral hemispheric cerebellar hypoplasia [↗]
Isolated brachycephaly [↗]
Isolated breast aplasia [↗]
Isolated cerebellar hypoplasia/agenesis [↗]
Isolated cerebellar vermis agenesis [↗]
Isolated cerebellar vermis hypoplasia [↗]
Isolated cleft lip [↗]
Isolated cloverleaf skull syndrome [↗]
Isolated coenzyme Q-cytochrome C reductase deficiency [↗]
Isolated congenital acropachy [↗]
Isolated congenital alacrima [↗]
Isolated congenital anosmia [↗]
Isolated congenital auditory ossicle malformation [↗]
Isolated congenital controlateral synkinesia [↗]
Isolated congenital convex foot [↗]
Isolated congenital digital clubbing [↗]
Isolated congenital gonadotropin deficiency [↗]
Isolated congenital hypoglossia/aglossia [↗]
Isolated congenitally uncorrected transposition of the great arteries [↗]
Isolated congenitally uncorrected transposition of the great vessels [↗]
Isolated congenital megalocornea [↗]
Isolated congenital mirror movements [↗]
Isolated congenital nail clubbing [↗]
Isolated congenital nasal pyriform aperture stenosis [↗]
Isolated congenital sclerocornea [↗]
Isolated congenital vertical talus [↗]
Isolated CoQ-cytochrome C reductase deficiency [↗]
Isolated COX deficiency [↗]
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 distichiasis [↗]
Isolated dolichocephaly [↗]
Isolated dominant hypomagnesemia [↗]
Isolated ectopia lentis [↗]
Isolated facial myokymia [↗]
Isolated focal cortical dysplasia [↗]
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 follicle stimulating hormone deficiency [↗]
Isolated FSH 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 hereditary xanthinuria [↗]
Isolated humeroradial synostosis [↗]
Isolated IgG subclass deficiency [↗]
Isolated Klippel-Feil syndrome [↗]
Isolated lissencephaly type 1 without known genetic defects [↗]
Isolated macrencephaly [↗]
Isolated megalencephaly [↗]
Isolated mesenteric lipodystrophy [↗]
Isolated mitochondrial neurosensory deafness [↗]
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 NADH-coenzyme Q reductase deficiency [↗]
Isolated NADH-CoQ reductase deficiency [↗]
Isolated NADH-ubiquinone reductase deficiency [↗]
Isolated nasal pyriform aperture hypoplasia [↗]
Isolated nonketotic hyperglycinemia [↗]
Isolated nonketotic hyperglycinemia type 1 [↗]
Isolated nonketotic hyperglycinemia type 2 [↗]
Isolated optic nerve hypoplasia [↗]
Isolated osteopoikilosis [↗]
Isolated oxycephaly [↗]
Isolated partial cerebellar vermis agenesis [↗]
Isolated partial vaginal agenesis [↗]
Isolated patella aplasia-hypoplasia [↗]
Isolated Pierre Robin sequence [↗]
Isolated Pierre Robin syndrome [↗]
Isolated plagiocephaly [↗]
Isolated plasmalogenes synthesis deficiency [↗]
Isolated polythelia [↗]
Isolated postlingual genetic deafness [↗]
Isolated prelingual genetic deafness [↗]
Isolated prothyroliberin deficiency [↗]
Isolated protirelin deficiency [↗]
Isolated pulmonary capillaritis [↗]
Isolated pure microphthalmia [↗]
Isolated scaphocephaly [↗]
Isolated spina bifida [↗]
Isolated sternocostoclavicular hyperostosis [↗]
Isolated succinate-coenzyme Q reductase deficiency [↗]
Isolated succinate-CoQ reductase deficiency [↗]
Isolated succinate-ubiquinone reductase deficiency [↗]
Isolated sulfite oxidase deficiency [↗]
Isolated thyroid-stimulating hormone deficiency [↗]
Isolated thyroliberin deficiency [↗]
Isolated thyrotropin-releasing factor deficiency [↗]
Isolated thyrotropin-releasing hormone deficiency [↗]
Isolated total cerebellar vermis agenesis [↗]
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 unilateral hemispheric cerebellar hypoplasia [↗]
Isolated vitamin E deficiency [↗]
Isolated xanthine dehydrogenase (XDH) deficiency [↗]
Isolated xanthine oxidase (XO) deficiency [↗]
Isolated xanthine oxidoreductase (XOR) deficiency [↗]
Isosporiasis [↗]
Isotretinoin embryopathy [↗]
Isotretinoin-like syndrome [↗]
Isotretinoin syndrome [↗]
Isovaleric acid CoA dehydrogenase deficiency [↗]
Isovaleric acidemia [↗]
Itin syndrome [↗]
Ito hypomelanosis [↗]
ITP [↗]
IVC interruption [↗]
Ivemark syndrome [↗]
IVIC syndrome [↗]
IWC [↗]

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