| HPO |
HP:4000060 |
Abnormal pulmonary alveolar system development |
— |
— |
HP:0033137, HP:4000059 |
| HPO |
HP:4000061 |
Pancreatic alpha-cell hyperplasia |
"A diffuse and specific increase in the number of alpha-cells." [PMID:24285676] |
Alpha cells are glucagon-secreting endocrine cells in the pancreatic islets of the pancreas. |
HP:0004510 |
| HPO |
HP:4000062 |
3-4 metacarpal synostosis |
"A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers)." [HPO:probinson, PMID:27698627] |
Metacarpal synostosis is best described as a failure of differentiation causing a union between 2 adjacent metacarpals. |
HP:0009706, HP:0009707 |
| HPO |
HP:5000000 |
Anti-AK5 antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5)." [PMID:28062719, PMID:33843981] |
— |
HP:0030057 |
| HPO |
HP:5000001 |
Anti-AMPAR antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR)." [PMID:25979696, PMID:29225271] |
— |
HP:0030057 |
| HPO |
HP:5000002 |
Anti-Amphiphysin antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin." [PMID:20420178, PMID:27773907, PMID:31624089, PMID:32087460, PMID:33173498] |
— |
HP:0030057 |
| HPO |
HP:5000003 |
Anti-ARHGAP26 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26)." [PMID:26298328, PMID:28601293, PMID:30158896] |
— |
HP:0030057 |
| HPO |
HP:5000004 |
Anti-CARP VIII antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII)." [PMID:23568983, PMID:26377085] |
— |
HP:0030057 |
| HPO |
HP:5000005 |
Anti-CASPR2 |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2)." [PMID:29561731, PMID:32651251, PMID:32783406] |
— |
HP:0030057 |
| HPO |
HP:5000006 |
Anti-CV2/CRMP5 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum." [PMID:18931014, PMID:31656691, PMID:32110228] |
— |
HP:0030057 |
| HPO |
HP:5000007 |
Anti-DPPX antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX)." [PMID:27299786, PMID:28258082, PMID:32087460] |
— |
HP:0030057 |
| HPO |
HP:5000008 |
Anti-FGFR3 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3." [PMID:33563795, PMID:33588772] |
— |
HP:0030057 |
| HPO |
HP:5000009 |
Anti-GABA(A)R antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R." [PMID:28202703, PMID:30347219] |
— |
HP:0030057 |
| HPO |
HP:5000010 |
Anti-GABA(B)R antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R." [PMID:32103919, PMID:32710704, PMID:32783406] |
— |
HP:0030057 |
| HPO |
HP:5000011 |
Anti-GAD65 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65)." [PMID:30343467, PMID:32087461, PMID:32123047] |
— |
HP:0030057 |
| HPO |
HP:5000012 |
Anti-Gephyrin antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin." [PMID:20420178, PMID:22270318, PMID:29561731] |
— |
HP:0030057 |
| HPO |
HP:5000013 |
Anti-GFAP antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP)." [PMID:28120349, PMID:30663514, PMID:32019875, PMID:32827972] |
— |
HP:0030057 |
| HPO |
HP:5000014 |
Anti-GlyR antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR)." [PMID:21242500, PMID:22215239, PMID:32087460, PMID:32585946] |
— |
HP:0030057 |
| HPO |
HP:5000015 |
Anti-Homer-3 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3." [PMID:26377085] |
— |
HP:0030057 |
| HPO |
HP:5000016 |
Anti-Hu antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu." [PMID:11344832, PMID:18931014, PMID:19015226, PMID:25764259, PMID:32851899] |
— |
HP:0030057 |
| HPO |
HP:5000017 |
Anti-Iglon5 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5)." [PMID:27299786, PMID:28381508, PMID:30694925] |
— |
HP:0030057 |
| HPO |
HP:5000018 |
Anti-ITPR1 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1)." [PMID:28203616] |
— |
HP:0030057 |
| HPO |
HP:5000019 |
Anti-KLHL11 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11)." [PMID:31269365] |
— |
HP:0030057 |
| HPO |
HP:5000020 |
Anti-LGI1 antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1)." [PMID:32710704, PMID:32783406] |
— |
HP:0030057 |
| HPO |
HP:5000021 |
Anti-Ma antibody |
"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma." [PMID:27460184, PMID:33070888] |
— |
HP:0030057 |