Rare Disease Directory G - I
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- Galactokinase deficiency
- Galactorrhoea-Hyperprolactinaemia
- Galactosamine-6-sulfatase deficiency
- Galactose epimerase deficiency
- Galactosemia
- Gall bladder cancer
- Game Friedman Paradice syndrome
- Gamma aminobutyric acid transaminase deficiency
- Gamma heavy chain disease
- Gamma-cystathionase deficiency
- Gamstorp episodic adynamy
- Ganglioglioma
- Gangliosidosis generalized GM1 type 1
- Gangliosidosis GM1 type 3
- Gangliosidosis, generalized GM1 type 2
- GAPO syndrome
- Gardner Morrison Abbot syndrome
- Gardner syndrome
- Gardner-Diamond syndrome
- Garret Tripp syndrome
- Gas bloat syndrome
- Gastric lymphoma
- Gastrocutaneous syndrome
- Gastro-enteropancreatic neuroendocrine tumor
- Gastrointestinal Stromal Tumors
- Gastroschisis
- Gaucher Disease
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gaucher ichthyosis restrictive dermopathy
- Gaucher-like disease
- Gay Feinmesser Cohen syndrome
- Gelatinous ascites
- Geleophysic dwarfism
- Gelineau's syndrome
- Gemignani syndrome
- GEMSS syndrome
- Genee-Wiedemann syndrome
- Generalized resistance to thyroid hormone
- Generalized torsion dystonia
- Genetic reflex epilepsy
- Geniospasm
- Genital dwarfism
- Genital dwarfism, Turner type
- Genito palato cardiac syndrome
- Genoa syndrome
- Genu valgum, st Helena familial
- Genu varum
- Geographic tongue
- German syndrome
- Germinal cell aplasia
- Gerodermia osteodysplastica
- Gershinibaruch Leibo syndrome
- Gershoni-Baruch syndrome
- Gertsmann syndrome
- Gestational pemphigoid
- Gestational trophoblastic disease
- Gestational trophoblastic neoplasms
- Ghosal hematodiaphyseal dysplasia syndrome
- Ghosal syndrome
- Ghose Sachdev Kumar syndrome
- Gianotti Crosti syndrome
- Giant axonal neuropathy
- Giant cell myocarditis
- Giant congenital nevi
- Giant ganglionic hyperplasia
- Giant mammary hamartoma
- Giant papillary conjunctivitis
- Giant pigmented hairy nevus
- Giant platelet syndrome
- Giardiasis
- Giedion syndrome
- Gigantism
- Gigantism advanced bone age hoarse cry
- Gigantomastia
- Gingival fibromatosis dominant
- Gingival fibromatosis facial dysmorphism
- Gingival fibrosis
- Gitelman syndrome
- Glanders
- Glass Chapman Hockley syndrome
- Glassy cell carcinoma of the cervix
- Glaucoma 3, primary infantile, B
- Glaucoma iridogoniodysgenesia
- Glaucoma sleep apnea
- Glaucoma type 1C
- Glaucoma, congenital
- Glaucoma, hereditary
- Glaucoma, hereditary adult type 1A
- Glaucoma, hereditary juvenile type 1B
- Glaucoma, primary infantile type 3A
- Glioblastoma
- Glioblastoma multiforme
- Glioma
- Gliomatosis cerebri
- Gliosarcoma
- Global disaccharide intolerance
- Glomerulonephritis
- Glomerulonephritis sparse hair telangiectases
- Glomerulopathy with fibronectin deposits
- Glomus tympanicum
- Glomus vagale tumors
- Gloomy face syndrome
- Glossodynia
- Glossopalatine ankylosis micrognathia ear anomalies
- Glossopharyngeal neuralgia
- Glucagonoma
- Glucagonoma syndrome
- Glucocorticoid deficiency, familial
- Glucocorticoid resistance
- Glucocorticoid sensitive hypertension
- Glucose 6 phosphate dehydrogenase deficiency
- Glucose galactose malabsorption
- Glucose transport defect, blood-brain barrier
- Glucose-6-phosphate translocase deficiency
- Glucosephosphate isomerase deficiency
- Glucosidase acid-1,4-alpha deficiency
- Glut2 deficiency
- Glutamate decarboxylase deficiency
- Glutamate-aspartate transport defect
- Glutamine deficiency, congenital
- Glutamine deficiency, congenital
- Glutaric aciduria 1
- Glutaric aciduria 2
- Glutathione synthetase deficiency
- Glutathionuria
- Glyceraldehyde-3-phosphate dehydrogenase deficiency
- Glycine encephalopathy
- Glycine synthase deficiency
- Glycogen storage disease 8
- Glycogen storage disease type 1
- Glycogen storage disease type 1B
- Glycogen storage disease type 1C
- Glycogen storage disease type 1D
- Glycogen storage disease type 2
- Glycogen storage disease type 2B
- Glycogen storage disease type 3
- Glycogen storage disease type 4
- Glycogen storage disease type 5
- Glycogen storage disease type 6
- Glycogen storage disease type 6, due to phosphorylation
- Glycogen storage disease type 7
- Glycogenosis, type 0
- Glycosylphosphatidylinositol deficiency
- GM2 gangliosidosis, 0 variant
- GM2-gangliosidosis, B, B1, AB variant
- Gms syndrome
- Gnathostoma Infection
- Goblet cell carcinoma
- Goldberg-Shprintzen megacolon syndrome
- Goldblatt Wallis syndrome
- Goldblatt Viljoen syndrome
- Goldenhar disease
- Goldstein Hutt syndrome
- Gollop Coates syndrome
- Gollop syndrome
- GOMBO syndrome
- Gomez Lopez Hernandez syndrome
- Gonadal dysgenesis
- Gonadal dysgenesis mixed
- Gonadal dysgenesis Turner type
- Gonadal dysgenesis XY type associated anomalies
- Gonadal dysgenesis, XX type
- Gonadal dysgenesis, XY female type
- Goniodysgenesis mental retardation short stature
- Gonococcal conjunctivitis
- Gonzales Del Angel syndrome
- Good syndrome
- Goodman syndrome
- Goodpasture syndrome
- Gordon hyperkaliemia-hypertension syndrome
- Gordon syndrome
- Gorham syndrome
- Gorlin Bushkell Jensen syndrome
- Gorlin Chaudhry Moss syndrome
- Gouty nephropathy, familial
- Gracile bone dysplasia
- Graft versus host disease
- Graham Boyle Troxell syndrome
- Grand Kaine Fulling syndrome
- Grant syndrome
- Granulocytopenia
- Granuloma annulare
- Granulomas, congenital cerebral
- Granulomatous Angiitis of the Central Nervous System
- Granulomatous hypophysitis
- Granulomatous rosacea
- Granulosa cell tumor of the ovary
- Graphite Pneumoconiosis
- Graves' disease
- Gray platelet syndrome
- Great vessels transposition
- Green Sandford Davison syndrome
- Greenberg dysplasia
- Greig cephalopolysyndactyly syndrome
- Griscelli syndrome type 1
- Griscelli syndrome type 2
- Griscelli syndrome type 3
- Grix Blankenship Peterson syndrome
- Groenouw type I corneal dystrophy
- Groll Hirschowitz syndrome
- Grosse syndrome
- Group B strep disease in newborns
- Grover's disease
- Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
- Growth deficiency brachydactyly unusual facies
- Growth hormone deficiency
- Growth mental deficiency syndrome of Myhre
- Growth retardation alopecia pseudoanodontia optic
- Growth retardation hydrocephaly lung hypoplasia
- Growth retardation mental retardation phalangeal hypoplasia
- Grubben de Cock Borghgraef syndrome
- GTP cyclohydrolase deficiency
- Guanidinoacetate methyltransferase deficiency
- Guillain-Barre syndrome
- Guizar Vasquez Sanchez Manzano syndrome
- Gupta Patton syndrome
- Gurrieri Sammito Bellussi syndrome
- Gusher syndrome
- Gynandroblastoma
- Hagemoser Weinstein Bresnick syndrome
- Hailey Hailey disease
- Haim-Munk syndrome
- Hair defect with photosensitivity and mental retardation
- HAIR-AN syndrome
- Hairy cell leukemia
- Hairy elbows
- Hairy nose tip
- Hairy palms and soles
- Hairy tongue
- Hajdu-Cheney syndrome
- Halal Setton Wang syndrome
- Halal syndrome
- Hall Riggs mental retardation syndrome
- Hallervorden-Spatz disease
- Halo nevi
- Hamanishi Ueba Tsuji syndrome
- Hamano Tsukamoto syndrome
- Hand and foot deformity with flat facies
- Hand foot uterus syndrome
- Hand-Schuller-Christian disease
- Hanhart syndrome
- Hantavirosis
- Hantavirus pulmonary syndrome
- Hard skin syndrome Parana type
- HARD syndrome
- Hardikar syndrome
- Harding ataxia
- Harlequin ichthyosis
- Harlequin syndrome
- Harrod Doman Keele syndrome
- Hartnup disease
- Hashimoto-Pritzker syndrome
- Hashimoto's encephalitis
- Hashimoto's syndrome
- Haspeslagh Fryns Muelenaere syndrome
- Hawkinsinuria
- Hay Wells syndrome recessive type
- Hay-Wells syndrome
- Heart block progressive, familial
- Heart defect, tongue hamartoma and polysyndactyly
- Heart defects limb shortening
- Heart tumor
- Heart-hand syndrome, Slovenian type
- Heart-hand syndrome,Spanish type
- Heavy metal poisoning
- HEC syndrome
- Hecht Scott syndrome
- Hecht syndrome
- HELLP syndrome
- Helminthiasis
- HEM dysplasia
- Hemangioblastoma
- Hemangioendothelioma
- Hemangioma thrombocytopenia syndrome
- Hemangioma, capillary infantile
- Hemangiomatosis, familial pulmonary capillary
- Hemangiopericytoma
- Hemeralopia, congenital essential
- Hemeralopia, familial
- Hemi 3 syndrome
- Hemifacial atrophy agenesis of the caudate nucleus
- Hemifacial hyperplasia strabismus
- Hemifacial myohyperplasia
- Hemihypertrophy in context of NF
- Hemihypertrophy intestinal web corneal opacity
- Hemimegalencephaly
- Hemiplegia
- Hemiplegic migraine, familial type 1
- Hemiplegic migraine, familial type 2
- Hemochromatosis, type 2
- Hemochromatosis, type 3
- Hemochromatosis, type 4
- Hemoglobin C disease
- Hemoglobin E disease
- Hemoglobin SC disease
- Hemoglobin sickle-beta thalassemia
- Hemoglobin Zurich
- Hemoglobinemia
- Hemoglobinopathy
- Hemoglobinuria
- Hemolytic anemia lethal genital anomalies
- Hemolytic uremic syndrome, atypical, childhood
- Hemolytic-uremic syndrome
- Hemophagocytic lymphohistiocytosis
- Hemophagocytic lymphohistiocytosis, familial, 2
- Hemophagocytic lymphohistiocytosis, familial, 3
- Hemophagocytic lymphohistiocytosis, familial, 4
- Hemophagocytic reticulosis
- Hemophilia A, acquired
- Hemophilia A, congenital
- Hemophilia B
- Hemophilic arthropathy
- Hemorrhagic fever
- Hemorrhagic proctocolitis
- Hemorrhagic shock and encephalopathy syndrome
- Hemorrhagic thrombocythemia
- Hemorrhagiparous thrombocytic dystrophy
- Hemosiderosis
- Hennekam Beemer syndrome
- Hennekam Koss de Geest syndrome
- Hennekam lymphangiectasia lymphedema syndrome
- Hennekam syndrome
- Hennekam Van der Horst syndrome
- Henoch-Schonlein purpura
- Hepadnavirus infection
- Heparane sulfamidase deficiency
- Heparin induced thrombocytopenia
- Hepatic cystic hamartoma
- Hepatic encephalopathy
- Hepatic fibrosis
- Hepatic fibrosis renal cysts mental retardation
- Hepatic venoocclusive disease
- Hepatic venoocclusive disease with immunodeficiency
- Hepatitis E
- Hepatitis X (non-A,-B,-C,-D,-E)
- Hepatoblastoma
- Hepatocellular carcinoma
- Hepatocellular carcinoma (fibrolamellar variant)
- Hepatocellular carcinoma, childhood
- Hepatoerythropoietic porphyria
- Hepatorenal syndrome
- Hereditary amyloidosis
- Hereditary angioedema
- Hereditary ataxia
- Hereditary carnitine deficiency
- Hereditary cerebellar ataxia syndrome of early onset
- Hereditary cerebral hemorrhage with amyloidosis
- Hereditary deafness
- Hereditary elliptocytosis
- Hereditary fructose intolerance
- Hereditary hearing disorder
- Hereditary hearing loss
- Hereditary hemorrhagic telangiectasia
- Hereditary hyperuricemia
- Hereditary koilonychia
- Hereditary macrothrombocytopenia
- Hereditary methemoglobinemia, recessive
- Hereditary myopathy with intranuclear filamentous
- Hereditary nodular heterotopia
- Hereditary nonpolyposis colon cancer
- Hereditary non-spherocytic hemolytic anemia
- Hereditary pancreatitis
- Hereditary paroxysmal cerebral ataxia
- Hereditary peripheral nervous disorder
- Hereditary primary Fanconi disease
- Hereditary resistance to anti-vitamin K
- Hereditary sensory and autonomic neuropathy 3
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory neuropathy type 2
- Hereditary spastic paralysis, infantile onset ascending
- Hereditary spastic paraplegia
- Hereditary spherocytic hemolytic anemia
- Hereditary spherocytosis
- Hereditary type 1 neuropathy
- Hereditary type 2 neuropathy
- Hermansky Pudlak syndrome 2
- Hermansky-Pudlak syndrome
- Hermaphroditism
- Herpes simiae (B virus)
- Herpes simplex encephalitis
- Herpes virus antenatal infection
- Herpes zoster ophthalmicus
- Herpesvirus simiae B virus
- Herpetic embryopathy
- Herpetic keratitis
- Herrmann Opitz arthrogryposis syndrome
- Herrmann Opitz craniosynostosis
- Herrmann syndrome
- Hersh Podruch Weisskopk syndrome
- Heterochromia iridis
- Heterotaxia autosomal dominant type
- Heterotaxy with polysplenia or asplenia
- Heterotaxy, visceral, X-linked
- HHV-6 encephalitis
- Hiccups, intractable
- Hidradenitis suppurativa, familial
- Hidradenocarcinoma
- High-molecular-weight kininogen deficiency, congenital
- Hillig syndrome
- Hing Torack Dowston syndrome
- Hinson-Pepys disease
- Hip dislocation
- Hip Dysplasia
- Hip dysplasia Beukes type
- Hip luxation
- Hip subluxation
- Hipo syndrome
- Hirschsprung disease ganglioneuroblastoma
- Hirschsprung disease polydactyly heart disease
- Hirschsprung disease type 2
- Hirschsprung disease type 3
- Hirschsprung disease type d brachydactyly
- Hirschsprung microcephaly cleft palate
- Hirschsprung nail hypoplasia dysmorphism
- Hirschsprung's disease
- Hirsutism congenital gingival hyperplasia
- Hirsutism skeletal dysplasia mental retardation
- His bundle tachycardia
- Histidinemia
- Histidinuria renal tubular defect
- Histiocytosis with joint contractures and sensorineural deafness
- Histiocytosis X
- Histiocytosis, Non-Langerhans-Cell
- Hittner Hirsch Kreh syndrome
- Hm syndrome
- HMG CoA lyase deficiency
- HMG CoA synthetase deficiency
- Ho Kaufman Mcalister syndrome
- Hodgkin disease, X-linked pseudoautosomal
- Hodgkin lymphoma, adult
- Hodgkin lymphoma, childhood
- Hodgkin lymphoma, during pregnancy
- Hodgkin's disease
- Hollow visceral myopathy
- Holmes Borden syndrome
- Holmes Collins syndrome
- Holoacardius amorphus
- Holocarboxylase synthetase deficiency
- Holoprosencephaly
- Holoprosencephaly caudal dysgenesis
- Holoprosencephaly deletion 2p
- Holoprosencephaly ectrodactyly cleft lip palate
- Holoprosencephaly radial heart renal anomalies
- Holoprosencephaly, recurrent infections, and monocytosis
- Holt-Oram syndrome
- Holzgreve Wagner Rehder syndrome
- Homocarnosinosis
- Homocystinuria
- Homocystinuria due to defect in methylation (cbl g)
- Homocystinuria due to defect in methylation cbl e
- Homologous wasting disease
- Homozygous hypobetalipoproteinemia
- Hooft disease
- Hoon Hall syndrome
- Hordnes Engebretsen Knudtson syndrome
- Horn Kolb syndrome
- Horner's syndrome
- Hornova Dlurosova syndrome
- Horseshoe kidney
- Horton’s disease
- Houlston Ironton Temple syndrome
- Howard Young syndrome
- Hoyeraal Hreidarsson syndrome
- Hoyeraal syndrome
- Human granulocytic ehrlichiosis
- Human monocytic ehrlichiosis
- Human parvovirus B19 infection
- Human spumaretrovirus infection
- Human T Cell Leukemia Virus 1
- Human T-cell leukemia viruses type 2
- Human T-lymphotropic virus type 3
- Humeroradial synostosis
- Humeroradioulnar synostosis
- Humerus trochlea aplasia of
- Hunter Carpenter Macdonald syndrome
- Hunter Jurenka Thompson syndrome
- Hunter Macpherson syndrome
- Hunter Mcdonald syndrome
- Hunter Rudd Hoffmann syndrome
- Hunter-McAlpine syndrome
- Huntington disease
- Hurst Hallam Hockey syndrome
- Hutchinson Gilford progeria syndrome
- Hutchinson incisors
- Hutterite cerebroosteonephrodysplasia syndrome
- Hutteroth Spranger syndrome
- Hyalinosis systemic short stature
- Hyaloideoretinal degeneration of Wagner
- Hydatidiform mole
- Hydatidosis
- Hyde Forster Mccarthy Berry syndrome
- Hydranencephaly
- Hydroa vacciniforme
- Hydroa vacciniforme, familial
- Hydrocephalus
- Hydrocephalus autosomal recessive
- Hydrocephalus costovertebral dysplasia Sprengel anomaly
- Hydrocephalus craniosynostosis bifid nose
- Hydrocephalus due to congenital stenosis of aqueduct of sylvius
- Hydrocephalus endocardial fibroelastosis cataract
- Hydrocephalus growth retardation skeletal anomalies
- Hydrocephalus obesity hypogonadism
- Hydrocephalus skeletal anomalies
- Hydrocephaly corpus callosum agenesis diaphragmatic hernia
- Hydrocephaly low insertion umbilicus
- Hydrocephaly tall stature joint laxity
- Hydrolethalus syndrome
- Hydronephrosis congenital
- Hydronephrosis peculiar facial expression
- Hydrops ectrodactyly syndactyly
- Hydrops fetalis
- Hydrops fetalis anemia immune disorder absent thumb
- Hydroxycarboxylic aciduria
- Hydroxykynureninuria
- Hygroma cervical
- Hymenolepiasis
- Hyper IgE
- Hyper IgM syndrome
- Hyperacusis
- Hyperadrenalism
- Hyperaldosteronism
- Hyperaldosteronism familial type 2
- Hyperaldosteronism, familial type 1
- Hyperammonemia
- Hyperandrogenism
- Hyperbilirubinemia transient familial neonatal
- Hyperbilirubinemia type 1
- Hyperbilirubinemia type 2
- Hypercalcinuria macular coloboma
- Hypercalciuria, childhood idiopathic
- Hypercementosis
- Hypercholesterolemia, autosomal dominant
- Hypercholesterolemia, autosomal dominant, type B
- Hyperchylomicronemia
- Hypereosinophilic syndrome
- Hyperexplexia hereditary
- Hyperferritinemia, hereditary, with congenital cataracts
- Hyperglycerolemia
- Hyperglycinemia, isolated nonketotic
- Hyperglycinemia, isolated nonketotic type 1
- Hyperglycinemia, isolated nonketotic type 2
- Hypergonadotropic ovarian failure, familial or sporadic
- Hyperhomocysteinemia
- Hyper-IgD syndrome
- Hyperimidodipeptiduria
- Hyperimmunoglobinemia D with recurrent fever
- Hyperimmunoglobulin E - reccurrent infection syndrome
- Hyperimmunoglobulinemia D with periodic fever
- Hyperimmunoglobulinemia E
- Hyperinsulinemic hypoglycemia, familial, 1
- Hyperinsulinemic hypoglycemia, familial, 2
- Hyperinsulinemic hypoglycemia, familial, 3
- Hyperinsulinemic hypoglycemia, familial, 6
- Hyperinsulinemic hypoglycemia, familial, 7
- Hyperinsulinism due to focal adenomatous hyperplasia
- Hyperinsulinism due to glucokinase deficiency
- Hyperinsulinism due to glutamodehydrogenase deficiency
- Hyperinsulinism in children, congenital
- Hyperinsulinism, diffuse
- Hyperinsulinism, focal
- Hyperkalemic periodic paralysis
- Hyperkeratosis lenticularis perstans
- Hyperkeratosis palmoplantar localized acanthokeratolytic
- Hyperkeratosis palmoplantar localized epidermolytic
- Hyperkeratosis palmoplantar with palmar crease hyperkeratosis
- Hyperlipoproteinemia type 1
- Hyperlipoproteinemia type 2
- Hyperlipoproteinemia type 3
- Hyperlipoproteinemia type 5
- Hyperlysinemia
- Hyperornithinemia
- Hyperornithinemia-hyperammonemia-homocitrullinuria
- Hyperostosis cortical infantile
- Hyperostosis corticalis generalisata
- Hyperostosis-hyperphosphatemia syndrome
- Hyperoxaluria
- Hyperparathyroidism, familial, primary
- Hyperparathyroidism, neonatal severe primary
- Hyperparathyroidism, primary
- Hyperphalangism dysmorphy bronchomalacia
- Hyperphenilalaninemia due to pterin-4-alpha-carbin
- Hyperphenylalalinemia due to dihydropteridine reductase deficiency
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
- Hyperphenylalaninemia with primapterinuria
- Hyperphenylalaninemic embryopathy
- Hyperpipecolatemia
- Hyperprolactinemia
- Hyperprolinemia
- Hyperprolinemia type 2
- Hyper-reninism
- Hypersensitivity vasculitis
- Hypersomnolence, idiopathic
- Hypertelorism and tetralogy of Fallot
- Hypertelorism with esophageal abnormality and hypospadias
- Hypertensive hypokalemia familial
- Hyperthermia induced defects
- Hyperthyroidism due to mutations in TSH receptor
- Hypertrichosis atrophic skin ectropion macrostomia
- Hypertrichosis brachydactyly obesity and mental retardation
- Hypertrichosis congenital generalized X-linked
- Hypertrichosis lanuginosa congenita
- Hypertrichosis lanuginosa, acquired
- Hypertrichosis retinopathy dysmorphism
- Hypertrichosis, anterior cervical
- Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
- Hypertrophic branchial myopathy
- Hypertrophic hemangiectasia
- Hypertrophic neuropathy of Dejerine-Sottas
- Hypertrophic osteoarthropathy, primary or idiopathic
- Hypertryptophanemia
- Hypoadrenalism
- Hypoadrenocorticism hypoparathyroidism moniliasis
- Hypoaldosteronism
- Hypoalphalipoproteinemia, primary
- Hypobetalipoproteinaemia ataxia hearing loss
- Hypobetalipoprotéinemia, familial
- Hypocalcemia, autosomal dominant
- Hypocalciuric hypercalcemia, familial, type 1
- Hypocalciuric hypercalcemia, familial, type 2
- Hypocalciuric hypercalcemia, familial, type 3
- Hypochondrogenesis
- Hypochondroplasia
- Hypocomplementemic urticarial vasculitis
- Hypodermyasis
- Hypodontia dysplasia of nails
- Hypodontia of incisors and premolars
- Hypodontia, X-linked
- Hypofibrinogenemia, familial
- Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
- Hypoglycemia with deficiency of glycogen synthetase in the liver
- Hypoglycemia, leucine-induced
- Hypogonadism cardiomyopathy
- Hypogonadism hypogonadotropic due to mutations in GR hormone
- Hypogonadism male mental retardation skeletal anomaly
- Hypogonadism mitral valve prolapse mental retardation
- Hypogonadism primary partial alopecia
- Hypogonadism retinitis pigmentosa
- Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
- Hypogonadism, isolated, hypogonadotropic
- Hypogonadotropic hypogonadism syndactyly
- Hypogonadotropic hypogonadism without anosmia, X-linked
- Hypogonadotropic hypogonadism-anosmia
- Hypogonadotropic hypogonadism-anosmia, X-linked
- Hypohidrotic ectodermal dysplasia
- Hypohidrotic ectodermal dysplasia autosomal dominant
- Hypohidrotic ectodermal dysplasia autosomal recessive
- Hypohidrotic ectodermal dysplasia hypothyroidism ciliary diskinesia
- Hypohidrotic ectodermal dysplasia with immune deficiency
- Hypohidrotic ectodermal dysplasia X-linked
- Hypokalemia
- Hypokalemic alkalosis with hypercalcinuria
- Hypokalemic periodic paralysis
- Hypoketonemic hypoglycemia
- Hypolipoproteinemia
- Hypomagnesemia 2, renal
- Hypomagnesemia primary
- Hypomandibular faciocranial dysostosis
- Hypomelanotic disorder
- Hypomelia mullerian duct anomalies
- Hypoparathyroidism
- Hypoparathyroidism familial isolated
- Hypoparathyroidism short stature mental retardation
- Hypoparathyroidism X-linked
- Hypoparathyroidism-retardation-dysmorphism syndrome
- Hypopharyngeal cancer
- Hypophosphatasia
- Hypophosphatasia, childhood
- Hypophosphatemic rickets
- Hypopigmentation oculocerebral syndrome Cross type
- Hypopituitarism
- Hypopituitarism micropenis cleft lip palate
- Hypopituitarism postaxial polydactyly
- Hypopituitary dwarfism
- Hypoplasia hepatic ductular
- Hypoplasia of the tibia with polydactyly
- Hypoplastic left heart syndrome
- Hypoplastic right heart microcephaly
- Hypoplastic thumb mullerian aplasia
- Hypoplastic thumbs hydranencephaly
- Hypoproconvertinemia
- Hypoprothrombinemia
- Hyporeninemic hypoaldosteronism
- Hyposmia nasal hypoplasia hypogonadism
- Hypospadias familial
- Hypospadias mental retardation Goldblatt type
- Hypotelorism cleft palate hypospadias
- Hypothalamic dysfunction
- Hypothalamic hamartomas
- Hypothyroidism due to iodide transport defect
- Hypothyroidism postaxial polydactyly mental retardation
- Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
- Hypotonic sclerotic muscular dystrophy
- Hypotrichosis mental retardation Lopes type
- Hypotrichosis simplex
- Hypoxanthine guanine phosphoribosyltransferase deficiency
- IBIDS syndrome
- ICF syndrome
- Ichthyosiform erythroderma, corneal involvement, deafness
- Ichthyosiform erythroderma, nonbullous congenital
- Ichthyosis alopecia eclabion ectropion mental retardation
- Ichthyosis and male hypogonadism
- Ichthyosis bullosa of Siemens
- Ichthyosis cheek eyebrow syndrome
- Ichthyosis congenita biliary atresia
- Ichthyosis deafness mental retardation skeletal anomaly
- Ichthyosis follicularis atrichia photophobia syndrome
- Ichthyosis hepatosplenomegaly cerebellar degeneration
- Ichthyosis hystrix gravior
- Ichthyosis hystrix, Curth Macklin type
- Ichthyosis linearis circumflexa
- Ichthyosis male hypogonadism
- Ichthyosis mental retardation Devriendt type
- Ichthyosis mental retardation dwarfism renal impairment
- Ichthyosis microphthalmos
- Ichthyosis prematurity syndrome
- Ichthyosis tapered fingers midline groove up
- Ichthyosis vulgaris
- Ichthyosis with hypotrichosis, autosomal recessive
- Ichthyosis, erythrokeratolysis hemalis
- Ichthyosis, keratosis follicularis spinulosa decalvans
- Ichthyosis, mental retardation, dwarfism, and renal impairment
- Idiopathic acute eosinophilic pneumonia
- Idiopathic adolescent scoliosis
- Idiopathic adult neutropenia
- Idiopathic alveolar hypoventilation syndrome
- Idiopathic atypical mycobacterial infection
- Idiopathic basal ganglia calcification 1
- Idiopathic basal ganglia calcification, childhood onset
- Idiopathic diffuse interstitial fibrosis
- Idiopathic dilatation of the pulmonary artery
- Idiopathic dilated cardiomyopathy
- Idiopathic double athetosis
- Idiopathic eosinophilic chronic pneumopathy
- Idiopathic facial palsy
- Idiopathic hypereosinophilic syndrome
- Idiopathic minimal change nephrotic syndrome
- Idiopathic myopathy
- Idiopathic pulmonary fibrosis
- Idiopathic pulmonary hemosiderosis
- Idiopathic pulmonary hypertension
- Idiopathic sclerosing mesenteritis
- Idiopathic subglottic tracheal stenosis
- Iida Kannari syndrome
- Illum syndrome
- Ilyina Amoashy Grygory syndrome
- Imaizumi Kuroki syndrome
- Iminoglycinuria
- Immotile cilia syndrome, due to defective radial spokes
- Immotile cilia syndrome, due to excessively long cilia
- Immune defect due to absence of thymus
- Immune deficiency, familial variable
- Immune thrombocytopenia
- Immunodeficiency with short limb dwarfism
- Immunodeficiency without anhidrotic ectodermal dysplasia
- Immunodeficiency, microcephaly with normal intelligence
- Immunoglobulin A deficiency 1
- Immunoglobulin A deficiency 2
- Impairment of oral perception
- Imperforate anus
- Imperforate oropharynx costo vetebral anomalies
- Impossible syndrome
- Inborn amino acid metabolism disorder
- Inborn branched chain aminoaciduria
- Inborn renal aminoaciduria
- Inborn urea cycle disorder
- Incisors fused
- Inclusion body myopathy, 2 autosomal recessive
- Inclusion body myopathy, autosomal dominant
- Inclusion conjunctivitis
- Incontinentia pigmenti
- Indomethacin antenatal infection
- Infant epilepsy with migrant focal crisis
- Infantile apnea
- Infantile axonal neuropathy
- Infantile convulsions and paroxysmal choreoathetosis, familial
- Infantile digital fibromatosis
- Infantile dysphagia
- Infantile multisystem inflammatory disease
- Infantile myofibromatosis
- Infantile onset spinocerebellar ataxia
- Infantile polymyoclonus
- Infantile recurrent chronic multifocal osteomyolitis
- Infantile sialic acid storage disorder
- Infantile spasms
- Infantile spasms broad thumbs
- Infantile striato thalamic degeneration
- Infection with Mycobacterium marinum
- Infectious arthritis
- Infectious myocarditis
- Infective endocarditis
- Infective myositis
- Inflammatory breast cancer
- Infundibulopelvic dysgenesis
- Insensitivity to pain, congenital, with anhidrosis
- Insulinoma
- Insulin-resistance type B
- Insulin-resistant acanthosis nigricans, type A
- Intercellular cholesterol esterification disease
- Interferon gamma, receptor 1, deficiency
- Internal carotid agenesis
- Intervertebral disc disease
- Intestinal atresia multiple
- Intestinal malrotation facial anomalies familial type
- Intestinal pseudo-obstruction
- Intestinal pseudoobstruction chronic idiopathic
- Intracranial aneurysms multiple congenital anomaly
- Intracranial arachnoid cysts
- Intracranial arteriovenous malformation
- Intrahepatic cholangiocarcinoma
- Intraocular melanoma
- Intrathoracic kidney vertebral fusion
- Intrauterine growth retardation mandibular malar hypoplasia
- Intrauterine infections
- Intrinsic factor, congenital deficiency of
- Iodine antenatal infection
- IRAK4 deficiency
- Iridocyclitis
- Iridogoniodysgenesis and skeletal anomalies
- Iridogoniodysgenesis type1
- Iridogoniodysgenesis, dominant type
- Iris dysplasia hypertelorism deafness
- Iris hypoplasia and glaucoma
- Irons Bhan syndrome
- Isaacs syndrome
- Ischiadic hypoplasia renal dysfunction immunodeficiency
- Ischiopatellar dysplasia
- Isobutyryl-CoA dehydrogenase deficiency
- Isosporosiasis
- Isotretinoin embryopathy like syndrome
- Isthmian coarctation
- Ivemark syndrome
- IVIC syndrome
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