Rare Disease Ghana Initiative

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
Intestinal toxemia botulism
Intestinal toxin-mediated botulism
Intoxication botulism
Intracranial arteriovenous malformation
Intracranial endodermal sinus tumor
Intracranial yolk sac tumor
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Intractable diarrhea of infancy
Intraductal papillary mucinous carcinoma of pancreas
Intrahepatic bile duct cystadenocarcinoma
Intrahepatic cholestasis of pregnancy
Intralobar congenital bronchopulmonary sequestration
Intralobar congenital pulmonary sequestration
Intraneural perineurioma
Intraocular medulloepithelioma
Intraosseous hemangioma
Intrauterine adhesions
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
Intrauterine synechiae
Intravascular large B-cell lymphoma
Intravascular lymphomatosis
Intrinsic factor deficiency
iNTS disease
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
Invdup(15)
Invdupdel(8p)
Inverse JEB
Inverse Klippel-Trénaunay syndrome
Inverse Marcus-Gunn phenomenon
Inverse RDEB
Inverse recessive dystrophic epidermolysis bullosa
Inverted 8p duplication/deletion syndrome
Inverted smile-neurogenic bladder syndrome
IOMID syndrome
ION
IOSCA
IPAH
iPAP
IPD
IPEX
IPPFE
Ipp-Gelfand syndrome
IPS
IPSID
IQSEC2-related syndromic intellectual disability
IRAK4 deficiency
IRD
IRIDA syndrome
Iridocorneal endothelial syndrome
Iridocyclitis
Irinotecan toxicity
Iris melanoma
Iron overload disease
Iron-refractory iron deficiency anemia
Irons-Bhan syndrome
Irons-Bianchi syndrome
Iron-sulfur cluster deficiency myopathy
IRVAN syndrome
Isaac-Mertens syndrome
Isaac syndrome
Ischiopatellar dysplasia
Ischiospinal dysostosis
Ischiovertebral dysplasia
Ischiovertebral syndrome
ISCU myopathy
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 absence of encephalon
Isolated acute necrotizing encephalopathy
Isolated agammaglobulinemia
Isolated agenesis of gallbladder
Isolated amyelia
Isolated ANE
Isolated anencephaly
Isolated anencephaly/exencephaly
Isolated angiitis of the central nervous system
Isolated aniridia
Isolated ankyloblepharon filiforme adnatum
Isolated anonychia
Isolated anophthalmia-microphthalmia syndrome
Isolated anorectal malformation
Isolated anterior cervical hypertrichosis
Isolated apertura pyriformis stenosis
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 bilateral hemispheric cerebellar hypoplasia
Isolated biliary atresia
Isolated blepharochalasis
Isolated bone marrow mastocytosis
Isolated brachycephaly
Isolated cerebellar agenesis
Isolated cerebellar vermis agenesis
Isolated cerebellar vermis hypoplasia
Isolated CHF
Isolated chorioretinal dystrophy
Isolated cleft lip
Isolated cleft of the ala nasi
Isolated cloverleaf skull syndrome
Isolated coenzyme Q-cytochrome C reductase deficiency
Isolated coloboma of the nose
Isolated complex I deficiency
Isolated complex III deficiency
Isolated congenital acropachy
Isolated congenital adermatoglyphia
Isolated congenital aglossia
Isolated congenital alacrima
Isolated congenital amastia
Isolated congenital anonychia
Isolated congenital anosmia
Isolated congenital auditory ossicle malformation
Isolated congenital breast hypoplasia/aplasia
Isolated congenital controlateral synkinesia
Isolated congenital digital clubbing
Isolated congenital ectropion
Isolated congenital elbow dislocation
Isolated congenital entropion
Isolated congenital gonadotropin deficiency
Isolated congenital hepatic fibrosis
Isolated congenital hypoglossia
Isolated congenital hypoglossia/aglossia
Isolated congenital hypogonadotropic hypogonadism
Isolated congenitally uncorrected transposition of the great arteries
Isolated congenitally uncorrected transposition of the great vessels
Isolated congenital maxillomandibular fusion
Isolated congenital megalocornea
Isolated congenital microcephaly
Isolated congenital mirror movements
Isolated congenital nail clubbing
Isolated congenital nasal pyriform aperture stenosis
Isolated congenital onychodysplasia
Isolated congenital radial head dislocation
Isolated congenital sclerocornea
Isolated congenital syngnathia
Isolated constitutional thrombocytopenia
Isolated CoQ-cytochrome C reductase deficiency
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 diffuse keratosis palmoplantaris
Isolated diffuse palmoplantar hyperkeratosis
Isolated diffuse palmoplantar keratoderma
Isolated diffuse PPK
Isolated distichiasis
Isolated dolichocephaly
Isolated dystonia
Isolated ectopia lentis
Isolated encephalocele
Isolated epispadias
Isolated exencephaly
Isolated facial myokymia
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 FSH deficiency
Isolated generalized anhidrosis with normal sweat glands
Isolated genetic deafness
Isolated glycerol kinase 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 hair shaft abnormality
Isolated hemihyperplasia
Isolated hemihypertrophy
Isolated hereditary congenital facial paralysis
Isolated hereditary giant platelet disorder
Isolated hereditary macrothrombocytopenia
Isolated hyperchlorhidrosis
Isolated hypogammaglobulinemia
Isolated IgG subclass deficiency
Isolated inherited giant platelet disorder
Isolated inherited macrothrombocytopenia
Isolated inherited retinal disorder
Isolated iridoschisis
Isolated Klippel-Feil syndrome
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 mesenteric lipodystrophy
Isolated microphakia
Isolated microphthalmia-anophthalmia-coloboma
Isolated microspherophakia
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 nail anomaly
Isolated nasal pyriform aperture hypoplasia
Isolated neck extensor myopathy
Isolated neonatal sclerosing cholangitis
Isolated nose agenesis
Isolated optic nerve hypoplasia/aplasia
Isolated optic neuritis
Isolated osteopoikilosis
Isolated oxidative phosphorylation complex disorder
Isolated oxycephaly
Isolated partial cerebellar vermis agenesis
Isolated partial vaginal agenesis
Isolated Pierre Robin sequence
Isolated Pierre Robin syndrome
Isolated plagiocephaly
Isolated polycystic liver disease
Isolated polythelia
Isolated postlingual genetic deafness
Isolated prelingual genetic deafness
Isolated progressive inherited retinal disorder
Isolated prothyroliberin deficiency
Isolated protirelin deficiency
Isolated pulmonary capillaritis
Isolated punctate palmoplantar hyperkeratosis
Isolated punctate palmoplantar keratoderma
Isolated punctate PPK
Isolated renal magnesium wasting
Isolated respiratory chain complex disorder
Isolated right ventricular hypoplasia
Isolated scaphocephaly
Isolated SCCH
Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
Isolated spina bifida
Isolated splenogonadal fusion
Isolated split hand-split foot malformation
Isolated stationary inherited retinal disorder
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 deficiency
Isolated thyrotropin-releasing factor deficiency
Isolated thyrotropin-releasing hormone deficiency
Isolated total cerebellar vermis agenesis
Isolated tracheoesophageal fistula
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 ventriculoarterial discordance
Isolated vitamin E deficiency
Isolated vitreoretinopathy
Isoniazid toxicity
Isosporiasis
Isotretinoin embryopathy
Isotretinoin-like syndrome
Isotretinoin syndrome
Isovaleric acid CoA dehydrogenase deficiency
Isovaleric acidemia
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
IU
IVC interruption
Ivemark II syndrome
Ivemark syndrome
IVIC syndrome
IWC

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