| HPO |
HP:4000010 |
Impaired renal tubular reabsorption of bicarbonate |
"Decreased renal tubular reabsorption of bicarbonate." [ORCID:0000-0002-2234-4248, PMID:31474092] |
— |
HP:0011038 |
| HPO |
HP:4000011 |
History of congenital HPV infection |
"A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn." [PMID:20300545] |
— |
HP:0033623 |
| HPO |
HP:4000012 |
Necrotizing ileitis |
— |
— |
HP:0032564 |
| HPO |
HP:4000013 |
Anti-desmoglein-1 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule." [] |
— |
HP:0030057 |
| HPO |
HP:4000014 |
Anti-desmoglein-3 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule." [] |
— |
HP:0030057 |
| HPO |
HP:4000015 |
Anti-envoplakin antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions." [PMID:24275244] |
— |
HP:0030057 |
| HPO |
HP:4000016 |
Anti-periplakin antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin." [PMID:24275244] |
— |
HP:0030057 |
| HPO |
HP:4000017 |
Anti-desmoplakin I antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1." [] |
— |
HP:0030057 |
| HPO |
HP:4000018 |
Anti-desmoplakin II antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II." [] |
— |
HP:0030057 |
| HPO |
HP:4000019 |
Anti-BP230 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against BP230." [PMID:32048350] |
Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. |
HP:0030057 |
| HPO |
HP:4000020 |
Anti-BP180 antibody positivity |
"Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen." [PMID:32048350] |
The presence of autoantibodies (immunoglobulins) in the serum that react against BP180. |
HP:0030057 |
| HPO |
HP:4000021 |
Anti-laminin 332 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332." [PMID:21725315, PMID:24154702] |
Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. |
HP:4000024 |
| HPO |
HP:4000022 |
Anti-laminin 6 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6." [] |
— |
HP:4000024 |
| HPO |
HP:4000023 |
Anti-laminin gamma1 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1." [PMID:24154702] |
Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. |
HP:4000024 |
| HPO |
HP:4000024 |
Anti-laminin antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane." [] |
— |
HP:0030057 |
| HPO |
HP:4000025 |
Anti-integrin antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth." [PMID:33483531] |
— |
HP:0030057 |
| HPO |
HP:4000026 |
Anti-transglutaminase 6 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6." [] |
— |
HP:0033563 |
| HPO |
HP:4000027 |
anti-LAD-1 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180." [] |
Bullous pemphigoid (BP) is an autoimmune blistering skin disease characterized by an autoimmune response to type XVII collagen (BP180). The generation of anti-BP180-NC16A IgG autoantibodies is considered to be central to the pathogenesis of BP, in part due to the close correlation between serum concentration and disease activity. However, about 60% of BP patients also generate IgG autoantibodies against LAD-1. |
HP:0030057 |
| HPO |
HP:4000028 |
Anti-LABD97 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion." [PMID:11180014] |
— |
HP:0030057 |
| HPO |
HP:4000029 |
Antigliadin antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin." [PMID:24052912] |
— |
HP:0030057 |
| HPO |
HP:4000030 |
Anti-reticulin antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin." [PMID:23365209] |
— |
HP:0030057 |
| HPO |
HP:4000031 |
Anti-type VII collagen antibody |
"The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII." [PMID:29619029] |
Anti-type VII collagen may be detected in bullous pemphigoid patients at time of relapse. |
HP:0030057 |
| HPO |
HP:4000032 |
False perception of self-motion |
"A perception that one's body is moving or swaying despite lack of motion of the body." [PMID:29443215] |
— |
HP:0001751 |
| HPO |
HP:4000033 |
Non-spinning vertigo |
"A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving)." [PMID:27083889, PMID:32986636] |
This feature can be observed in mal de debarquement syndrome and in vestibular paroxysmia. |
HP:0001751 |
| HPO |
HP:4000034 |
Infection-ssociated lymphopenia |
"Decreased lymphocyte count during infections." [PMID:32569607] |
— |
HP:0040088 |