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|
Disease |
|
Also Known as |
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Haemochromatosis |
 |
Bronze Diabetes |
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Haemoglobin M Disease |
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Methemoglobinaemia II |
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Hallermann–Streiff Syndrome |
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Oculomandibulofacial
Syndrome |
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Hallervorden Spatz |
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Neurodegeneration with Brain Iron
Accumulation Type I |
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Harlequin Syndrome |
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Harlequin Foetus |
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Hartnup Disease |
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Hart
Syndrome |
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Hashimoto Disease |
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Chronic Thyroiditis |
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Hawkinsinuria |
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4-Hydroxyphenylpyruvate Hydroxylase Deficiency |
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HELLP Syndrome |
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Heme Oxygenase-1
Deficiency |
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Hemoxygenase I |
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Hemihyperplasia |
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Hemihypertrophy |
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Hepatic Lipase
Deficiency |
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HL
Deficiency |
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Hereditary Angioedema |
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Hereditary Coproporphyria
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HCP |
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Hereditary Elliptocytosis |
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HE |
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Hereditary Folate Malabsorption |
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Folic
Acid Transport Deficiency |
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Hereditary Intrinsic Factor Deficiency |
|
Pernicious Anaemia,
Congenital, due to Defect of Intrinsic Factor |
|
|
Hereditary Nonspherocytic Haemolytic Anaemia |
|
HNHA |
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Hereditary Renal Glycosuria |
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Benign Glycosuria |
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Hermansky Pudlak Syndrome |
|
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|
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Hexokinase Deficiency |
|
HK
Deficiency |
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Hirschsprung Disease |
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|
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Histidinaemia |
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Histidase Deficiency |
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Holocarboxylase Synthetase Deficiency
|
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Holoprosencephaly |
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Homocarnosinosis |
|
Homocarnosinase Deficiency |
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Homocystinuria
|
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Huntington
Disease - Juvenile |
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Juvenile HD |
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Hutchinson-Gilford Progeria |
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Progeria |
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Hydroxy 3 Methyglutaryl CoA Lyase Deficiency (3) |
|
HMG-CoA
Lyase Deficiency |
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Hydroxy 3 Methyglutaryl CoA Synthase Deficiency (3) |
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|
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Hydroxybutyric Aciduria (4) |
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Succinic Semialdehyde Dehydrogenase Deficiency |
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Hydroxyisobutyric Aciduria (3)
|
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Hydroxyisobutyryl-CoA Deacylase Deficiency (3) |
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Hyperbetalipoproteinaemia |
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Hyperlipoproteinaemia Type II |
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Hyperchloridrosis |
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Hypercholesterolaemia |
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Familial High Cholesterol |
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Hyperexplexia |
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Hyperekplexia |
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Hyperhidrosis |
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Hyperinsulinism Hyperammonemia |
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GDH-HI |
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Hyperinsulinism Hypoglycaemia |
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Congenital Hyperinsulinism |
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Hyperkalaemic Periodic Paralysis |
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Hyperleucine Isoleucinaemia |
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Hyperlysinaemia |
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Lysine
Intolerance |
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Hyperornithinaemia Hyperammonaemia Homocitrullinuria Syndrome
|
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HHH |
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Hyperparathyroidism |
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Hyperphenylalaninaemia |
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HPA |
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Hyperphosphatasia with Mental Retardation |
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Hyperpipecolic Acidaemia |
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Pipecolic Acidaemia |
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Hyperprolinaemia Type 1 |
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Proline Oxidase Deficiency |
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Hyperprolinaemia Type 2 |
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Pyrolline Carboxylate Dehydrogenase Deficiency |
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Hyperthermia – Malignant |
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Hypertrophic Cardiomyopathy and Myopathy |
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Hyperzincemia |
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Hypobetalipoproteinaemia |
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HBL |
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Hypocalcinuric Hypercalcaemia |
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Hypercalcinaemia - Non-Williams |
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Hypochondroplasia |
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Hypokalaemic Periodic Paralysis |
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Hypomelanosis of Ito |
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Hypoparathyroidism |
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Hypophosphataemia - X-Linked
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Vitamin D Resistant
Rickets/XLH
|
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Hypophosphataemic Rickets with Hypercalcuria |
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Hypophosphatasia - General |
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Hypophosphatasia – Adult |
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Hypophosphatasia – Childhood |
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Hypophosphatasia – Infantile |
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Hypophosphatasia - Odontohypophosphatasia |
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Hypophosphatasia – Perinatal |
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Hypophosphatasia - Pseudohypophosphtasia |
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Hypopituitarism |
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Pituitary Insufficiency |
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Hypothyroidism - Congenital |
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Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
- Partial |
|
Partial HPRT Deficiency
|
