Rare Disease Directory G - I
- 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
UA Chapters
Kent St. Univ.
TBD
Univ. of Illinois
Acoustic Neuroma
Penn St. Univ.
Kidney Cancer
Univ. of Maryland
Cystic Fibrosis
N. Carolina St. U
Leukemia
U of Wisconsin–Madison
Leigh's Disease
Northwestern U
Niemann-Pick Type C
Colgate Univ.
Ependymoma
Saint Francis U
Apraxia
Univ. of Arizona
TBD
Univ. of Nebraska
Pediatric Brain Cancer
Boston College
Duchenne muscular dystrophy
Coastal Carolina U
TBD
Princeton Univ.
Aplastic Anemia
Fordham Univ.
Extrarenal Rhabdoid Tumor
Ohio St. Univ.
CMT
U of Notre Dame
Osteosarcoma
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Uplifting Athletes News
Friday, May 03, 2013
Uplifting Athletes Blog
President Barack Obama welcomes Hoffman family and 2012 Uplifting Athletes Rare Disease Champion Rex Burkhead to White House
April 29, 2013
Jack Hoffman touched a lot of hearts with his inspirational 69-yard touchdown run during the Nebraska football spring ga…
2013 NFL Draft Recap
April 27, 2013
Penn State University, Ohio State University, Northwestern University, North Carolina State University, Colgate University, University of Maryland, Boston College, University of Nebraska
2013 NFL Draft RECAP: Very proud to say that the 2012 Rare Disease Champion and eight other Uplifting Athletes were s…
Colgate Raiders break Life For Life record for dollars raised
April 23, 2013
We held our seventh annual Lift for Life last Wednesday in the Sanford Field House. The event was a huge success and I a…