- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: IEA. (OMIM:617772)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:617772)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:617772)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:28847925)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: IEA. (OMIM:617772)
- Periodic fever (HP:0032323): Episodic fever that recurs at regular intervals. Evidence: IEA. (OMIM:617772)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:617772)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: IEA. (OMIM:617772)
- 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:28847925)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:28847925)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: IEA. (OMIM:617772)
These phenotypes are associated with the disease hearing loss, autosomal dominant 34, with or without inflammation (OMIM:617772).