Phenotypes associated with the disease SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (OMIM:266300, an entry in Online Mendelian Inheritance in Man):
- Red hair (HP:0002297, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:266300)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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). Evidence: TAS. (OMIM:266300)