loading...| Preferred Name |
Autosomal recessive inheritance |
|
| Synonyms |
Autosomal recessive biallelic_autosomal Autosomal recessive predisposition Autosomal recessive form |
|
| Definitions |
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). |
|
| ID |
http://purl.obolibrary.org/obo/HP_0000007 |
|
| database_cross_reference |
SNOMEDCT_US:258211005 UMLS:C4020899 UMLS:C0441748 |
|
| definition |
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). |
|
| has_alternative_id |
HP:0001416 HP:0031362 HP:0001526 |
|
| has_exact_synonym |
Autosomal recessive biallelic_autosomal |
|
| has_obo_namespace |
human_phenotype |
|
| has_related_synonym |
Autosomal recessive predisposition Autosomal recessive form |
|
| id |
HP:0000007 |
|
| label |
Autosomal recessive inheritance |
|
| notation |
HP:0000007 |
|
| prefLabel |
Autosomal recessive inheritance |
|
| treeView | ||
| subClassOf |