All conditions under H

Conditions

• Haemophilia A

  Associated gene: F8

• Haemophilia B

  Associated gene: F9

• Hennekam lymphangiectasia-lymphedema syndrome

  Associated gene: CCBE1

• Hepatic venoocclusive disease with immunodeficiency

  Associated gene: SP110

• Hepatoerythropoietic porphyria

  Associated gene: UROD

• Hereditary folate malabsorption

  Associated gene: SLC46A1

• Hereditary fructose intolerance

  Associated gene: ALDOB

• Heritable Retinoblastoma

  Associated gene: RB1

• Hermansky-Pudlak syndrome
  2 associated genes

  • AP3B1
  • AP3D1
• HMG-CoA lyase deficiency

  Associated gene: HMGCL

• HMG-CoA synthase-2 deficiency

  Associated gene: HMGCS2

• Holocarboxylase synthetase deficiency

  Associated gene: HLCS

• Homocystinuria

  Associated gene: CBS

• Homocystinuria-megaloblastic anaemia
  2 associated genes

  • MTRR
  • MTR
• Homozygous Familial hypercholesterolaemia
  4 associated genes

  • LDLR
  • LDLRAP1
  • APOB
  • PCSK9
• Homozygous Variegate Porphyria

  Associated gene: PPOX

• Hyperammonemia due to carbonic anhydrase VA deficiency

  Associated gene: CA5A

• Hypercalcemia
  2 associated genes

  • CYP24A1
  • SLC34A1
• Hyper IgE recurrent infection syndrome

  Associated gene: STAT3

• Hyperinsulinism-hyperammonaemia syndrome

  Associated gene: GLUD1

• Hypermanganesaemia with dystonia

  Associated gene: SLC30A10

• Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome

  Associated gene: SLC25A15

• Hyperphenyalaninaemia
  2 associated genes

  • PTS
  • QDPR
• Hypobetalipoproteinaemia

  Associated gene: APOB

• Hypogonadotropic hypogonadism
  6 associated genes

  • ANOS1
  • GNRH1
  • KISS1R
  • PROK2
  • PROKR2
  • TACR3
• Hypohidrotic ectodermal dysplasia
  3 associated genes

  • EDA
  • EDAR
  • EDARADD
• Hypoparathyroidism

  Associated gene: GATA3

• Hypophosphataemic rickets
  4 associated genes

  • PHEX
  • FGF23
  • SLC34A3
  • DMP1
• Hypophosphatasia

  Associated gene: ALPL