Phenotypes associated with the disease 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (OMIM:264600, an entry in Online Mendelian Inheritance in Man):
- Ambiguous genitalia, male (HP:0000033, a Human Phenotype Ontology term): Ambiguous genitalia in an individual with XY genetic gender. Evidence: IEA. (OMIM:264600)
- Abnormal hair morphology (HP:0001595, a Human Phenotype Ontology term): An abnormality of the hair. Evidence: IEA. (OMIM:264600)
- Micropenis (HP:0000054, a Human Phenotype Ontology term): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: IEA. (OMIM:264600)
- Abnormality of the endocrine system (HP:0000818, a Human Phenotype Ontology term): An abnormality of the endocrine system. Evidence: IEA. (OMIM:264600)
- Uniparental disomy (HP:0032382, a Human Phenotype Ontology term): Inheritance of both homologues of a chromosome pair from the same parent. Evidence: IEA. (OMIM:264600)
- Perineal hypospadias (HP:0000051, a Human Phenotype Ontology term): Hypospadias with location of the urethral meatus in the perineal region. Evidence: IEA. (OMIM:264600)
- Abnormality of metabolism/homeostasis (HP:0001939, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:264600)
- Abnormality of the voice (HP:0001608, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:264600)
- 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: IEA. (OMIM:264600)
- Bifid scrotum (HP:0000048, a Human Phenotype Ontology term): Midline indentation or cleft of the scrotum. Evidence: IEA. (OMIM:264600)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:264600)