Phenotypes associated with the disease hypotrichosis 5 (OMIM:612841):
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/9. (PMID:23099647)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:23099647)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: PCS. (PMID:23099647)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/9. (PMID:23099647)
- Hearing abnormality (HP:0000364): An abnormality of the sensory perception of sound. Evidence: PCS. Frequency: 0/9. (PMID:23099647)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. (PMID:23099647)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. (PMID:23099647)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/9. (PMID:23099647)
- Thin eyebrow (HP:0045074): Decreased diameter of eyebrow hairs. Evidence: PCS. (PMID:23099647)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:23099647)
- Absent pubic hair (HP:0002555): Absence of pubic hair. Evidence: PCS. (PMID:23099647)