Disease Index

hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2)

hypertrophic cardiomyopathy that hhas material basis in heterozygous mutation in the NEXN gene on chromosome 1p31.1

hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation

hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TCAP gene on chromosome 17q12

hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22

hypertrophic cardiomyopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11

hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2)

hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4

hypertrophic cardiomyopathy that has material basis in homozygous or heterozygous mutation in the MYL3 gene

hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31

human disease

human disease

human disease

medical condition

human disease

metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood

hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats

Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms).

human disease

osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism

human disease

short, incompletely developed tongue

This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature

hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone

hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21

hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13

hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14

human disease

This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia