- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. (OMIM:211480)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. (OMIM:211480)
- Autosomal recessive inheritance (HP:0000007): 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:211480)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: IEA. (OMIM:211480)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: IEA. (OMIM:211480)
These phenotypes are associated with the disease thromboangiitis obliterans (OMIM:211480).