Db
|
Link
|
Name
|
Definition
|
Comment
|
Is a
|
HPO |
HP:0000007 |
Autosomal recessive inheritance |
"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)." [HPO:probinson] |
— |
HP:0000005 |
HPO |
HP:0008222 |
Female infertility |
— |
— |
HP:0000789, HP:0000868 |
HPO |
HP:0020157 |
Thin zona pellucida |
"Reduced thickness of the zona pellucida." [PMID:7657763] |
— |
HP:0020156 |