cystic fibrosis 15 Associations

CF fibrocystic disease of the pancreas pancreatic fibrosis mucoviscidosis fibrosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

dysostosis multiplex 20 Associations

Hurler's syndrome Hurler's disease gargoylism lipochondrodystrophy mucopolysaccharidosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

familial hypercholesterolemia 29 Associations

hypercholesterolemia (generic term) hypercholesteremia (generic term) monogenic disorder (generic term) monogenic disease (generic term)

fibrocystic disease of the pancreas 35 Associations

cystic fibrosis CF pancreatic fibrosis mucoviscidosis fibrosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

gargoylism 10 Associations

Hurler's syndrome Hurler's disease dysostosis multiplex lipochondrodystrophy mucopolysaccharidosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

gaucher's disease 17 Associations

Gaucher's disease lipidosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

huntington's chorea 19 Associations

Huntington's chorea Huntington's disease chorea (generic term) autosomal dominant disease (generic term) autosomal dominant disorder (generic term) monogenic disorder (generic term) monogenic disease (generic term)

huntington's disease 20 Associations

Huntington's chorea Huntington's disease chorea (generic term) autosomal dominant disease (generic term) autosomal dominant disorder (generic term) monogenic disorder (generic term) monogenic disease (generic term)

lipochondrodystrophy 20 Associations

Hurler's syndrome Hurler's disease gargoylism dysostosis multiplex mucopolysaccharidosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

monogenic disease 17 Associations

monogenic disorder genetic disease (generic term) genetic disorder (generic term) genetic abnormality (generic term) genetic defect (generic term) congenital disease (generic term) inherited disease (generic term)

monogenic disorder 18 Associations

monogenic disease genetic disease (generic term) genetic disorder (generic term) genetic abnormality (generic term) genetic defect (generic term) congenital disease (generic term) inherited disease (generic term)

mucoviscidosis 14 Associations

cystic fibrosis CF fibrocystic disease of the pancreas pancreatic fibrosis fibrosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

neurofibromatosis 17 Associations

von Recklinghausen's disease autosomal dominant disease (generic term) autosomal dominant disorder (generic term) monogenic disorder (generic term) monogenic disease (generic term)

pancreatic fibrosis 19 Associations

cystic fibrosis CF fibrocystic disease of the pancreas mucoviscidosis fibrosis (generic term) monogenic disorder (generic term) monogenic disease (generic term)

scid 4 Associations

severe combined immunodeficiency severe combined immunodeficiency disease SCID immunodeficiency (generic term) monogenic disorder (generic term) monogenic disease (generic term)

severe combined immunodeficiency 32 Associations

severe combined immunodeficiency disease SCID immunodeficiency (generic term) monogenic disorder (generic term) monogenic disease (generic term)

severe combined immunodeficiency disease 40 Associations

severe combined immunodeficiency SCID immunodeficiency (generic term) monogenic disorder (generic term) monogenic disease (generic term)

thalassaemia 12 Associations

thalassemia Mediterranean anemia Mediterranean anaemia hypochromic anemia (generic term) hypochromic anaemia (generic term) monogenic disorder (generic term) monogenic disease (generic term)

thalassemia 11 Associations

thalassaemia Mediterranean anemia Mediterranean anaemia hypochromic anemia (generic term) hypochromic anaemia (generic term) monogenic disorder (generic term) monogenic disease (generic term)

von recklinghausen's disease 28 Associations

neurofibromatosis von Recklinghausen's disease autosomal dominant disease (generic term) autosomal dominant disorder (generic term) monogenic disorder (generic term) monogenic disease (generic term)