hpotk.constants.hpo.inheritance module

hpotk.constants.hpo.inheritance.MENDELIAN_INHERITANCE: TermId = DefaultTermId(idx=2, value=HP:0034345)

0034345 | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.

Type:

HP

hpotk.constants.hpo.inheritance.AUTOSOMAL_DOMINANT_INHERITANCE: TermId = DefaultTermId(idx=2, value=HP:0000006)

0000006` | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes.

In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

Type:

`HP

hpotk.constants.hpo.inheritance.AUTOSOMAL_RECESSIVE_INHERITANCE: TermId = DefaultTermId(idx=2, value=HP:0000007)

0000007` | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).

Type:

`HP