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Haas Chir Robinson Syndrome
Hailey Hailey Disease (Benign Chronic Pemphigus, Familial)
Haim Munk Syndrome
Hair Color 2
Hair-Brain Syndrome
(Hajdu) Cheney Syndrome (Acroosteolysis with Osteoporosis and Changes in Skull and Mangible, Arthrodentoosteodysplasia)
Hallermann Streiff Syndrome (Francois Dyscephalic Syndrome)
Halo Nevi
Halushi Behcet's Syndrome
Hanhart Syndrome (Hypoglossia-Hypodactylia Syndrome)
Happy Puppet Syndrome
Harboyan Syndrome (Corneal Dystrophy Perceptive Deafness)
Hard (+/- E) Syndrome
Harlequin Fetus (Ichthyosis Fetalis)
Harrod Doman Keele Syndrome (Craniofacial, Digital, and Genital Anomalies)
Hauptmann Thannhausre Muscular Dystrophy
Hawkinsinuria (4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency)
Hay Well('s) Syndrome (AEC Syndrome, Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate)
HDR Syndrome
Hearing Loss-Nephritis Syndrome
Heart Block (Atrioventricular [A-V] Block)
Heart-Hand Syndrome (Atriodigital Dysplasia, Holt Oram Syndrome)
Heart Hypertrophy
Hegglin's Disease
Hemangioma (Haemangioma)
Hemiachromatopsia
Hemifacial Hyperplasia (Facial Asymmetry/Hemihypertrophy)
Hemihypertrophy (Hemihyperplasia[, Isolated])
Hemimegalencephaly
Hemochromatosis(, Hereditary)
Hemolytic Uremic Syndrome
Hemophilia
Hemorrhagic Disease Of The Newborn
Hemorrhagic Telangiectasia
Hepatic Glycogenosis
- with Aminoaciduria and Glucosuria
- with Fanconi Nephropathy
Hepatic Veno-Occlusive Disease
Hepatofacioneurocardiovertebral Syndrome
Hepatorenal Glycogenosis
- with Renal Fanconi Syndrome
Heredopathia Atactica Polyneuritiformis
Hermansky Pudlak Syndrome
Hermaphrodism
Herrmann Opitz Arthrogryposis Syndrome (VSR Syndrome)
Hers Disease (Glycogen Storage Disease, Type VI)
Hexadactyly
Hidradenitis Suppurativa
- Familial (Verneuil Disease)
HID Syndrome
Hidrotic/Hydrotic Ectodermal Dysplasia
HIE Syndrome
High-Density Lipoprotein Deficiency
Hing Torack Dowston Syndrome
Hirschsprung Disease
Histiocytosis
Hittner Hirsch Kreh Syndrome (Colobomatous Microphthalmia with Heart Disease and Hearing Loss)
Holmes Gang Syndrome (X-Linked Mental Retardation with Craniofacial Abnormalities, Club Feet and Microcephaly)
Holoprosencephaly
Holt Oram Syndrome
Homocystinuria
- Due to Cystathionine Beta-Synthase Deficiency
Homogentisic Acid Oxidase Deficiency
Homogentisic Acidura
Horn Kolb Syndrome
Horner('s) Syndrome
Hornova Dlurosova Syndrome
Horseshoe Kidney
Houlston Ironton Temple Syndrome (Atrioventricular Septal Defect with Blepharophimosis, Anal and Radial Defects)
Hoyeraal Hreidarsson Syndrome
Huebner Herter Disease
Hughes Syndrome
Humeroradial Synostosis
Hurler (Pfaundler/Scheie) Syndrome
Hutchinson Gilford (Progeria) Syndrome
Hyaloideoretinal Degeneration of Wagner
Hydranencephaly
Hydrocele
Hydrocephalus/Hydrocephaly
- List of Sites
- Hydrocephalus with Agyria and Retinal Dysplasia [HARD] Syndrome
- -Anencephaly
- with Cerebellar Agenesis
- X-Linked (Aqueductal Stenosis, X-Linked)
Hydroencephalodysplasia
Hydrolethalus Syndrome
Hydromercencephaly
Hydrometrocolpos
Hydrometrocolpos Syndrome
Hydronephrosis
Hydrops Fetalis
Hydroxyglutaricaciduria
Hygroma Colli
Hyper-Low-Density-Lipoproteinemia
Hyperammonemia
Hyperargininemia
Hyperbetalipoproteinemia (Hyperlipoproteinemia, Type II; Hyper-Low-Density-Lipoproteinemia; Hypercholesterolemic Xanthomatosis, Familial)
Hyperbilirubinemia
Hypercalcemia
Hypercholesterolemia
- IPERCOLESTEROLEMIA FAMILIARE

- Familial (Hyperlipidemia, Type IIa; Low Density Lipoprotein (LDL) Receptor Disorder)
- Type IV
- with Xanthomatosis
Hyperchylomicronemia
- Familial (Apolipoproteine C-II Deficiency; Hyperlipoproteinemia, Type 1 and 5; Lipoproteine Lipase Deficiency)
Hyperekplexia
Hyperglycerolemia
Hyperglycinemia Syndrome
Hyperimidodipeptiduria
Hyperinsulinism
- Diffuse
- Due to Focal Adenomatous Hyperplasia
- Due to Glucokinase Deficiency
- Due to Glutamodehydrogenase Deficiency
Hyperlipidemia
Hyperlipoproteinemia
Hyperostosis Corticalis Generalisata
Hyperoxaluria (Alanine-Glyoxylate Aminotransferase Deficiency, D-Glycerate Dehydrogenase Deficiency, Glycolicaciduria, Oxalosis)
Hyperparathyroidism
- Neonatal Severe Primary
- Type I (Familial Isolated Prmary)
Hyperphosphatasemia Tarda
Hyperprebeta-Lipoproteinemia
Hyperthermia
Hypertrichosis
Hypertriglyceridemia
Hypertrophic Osteoarthropathy
Hypertrophic Pyloric Stenosis
Hypertrophic Subaortic Stenosis
Hypo-Alphalipoproteinemia
- Primary (Alpha High-Density Lipoprotein Deficiency, Alphalipoproteinemia, Analphalipoproteinemia, Apo A-I Deficiency, Familial Alpha-Lipoprotein Deficiency, Familial High-Density Lipoprotein Deficiency, LCAT Deficiency, Tangier Disease)
Hypocalciuric Hypercalcemia
Hypochondrogenesis
Hypochondroplasia (Achondroplasia Tarda, Atypical Achondroplasia)
Hypochromic Anemia
Hypofibrinogenemia
Hypoglossia-Hypodactylia Syndrome
Hypoglycemia
Persistent
Hyperinsulinemic
of Infancy (Nesidioblastosis of Pancreas, Hyperinsulinism, Pancreatic Adenoma)
Hypohidrotic (Anhidrotic) Ectodermal Dysplasia
Hypokalemia/Hypokaliemic
Hypertensive
Hypomelanosis of Ito
Hypoparathyroidism
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypophosphatasia
- Infantile (Phosphoethanolaminuria)
Hypophosphatemia
Hypopigmentation Oculocerebral Syndrome
Hypopituitarism/Hypopituitary Dwarfism
Hypoplasia
- Focal
- of Orbital Margin
- of Thymus
Hypospadias
Hypothalamic Hamartomas (Congenital Hypothalamic Hamartoma Syndrome)
Hypothyroidism
Hypotonia
Hypotransferrinemia
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