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. Author manuscript; available in PMC: 2024 Apr 23.
Published in final edited form as: Genet Med. 2023 Nov 17;26(2):101029. doi: 10.1016/j.gim.2023.101029

Table 2.

Harmonized allelic requirement and Mendelian inheritance terms, child terms of HP:0034345

Allelic Requirement Term Inheritance Term HPO ID
monoallelic_autosomal Autosomal Dominant HP:0000006
biallelic_autosomal Autosomal Recessive HP:0000007
monoallelic_X_heterozygous X-linked Dominant HP:0001423
monoallelic_X_hemizygous X-linked Recessive HP:0001419
monoallelic_Y_hemizygous Y-linked HP:0001450
mitochondrial Mitochondrial HP:0001427
monoallelic_PAR PAR dominant HP:0034340
biallelic_PAR PAR recessive HP:0034341

HPO, human phenotype ontology; PAR, pseudoautosomal region.