| HPO |
HP:0410015 |
Abnormality of ganglion of peripheral nervous system |
"An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] |
— |
HP:0410014 |
| HPO |
HP:0410016 |
Abnormality of cranial ganglion |
"An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] |
— |
HP:0410014 |
| HPO |
HP:0410017 |
Otitis externa |
"Inflammation or infection of the external auditory canal (EAC), the auricle, or both." [http://search.medscape.com/search/?q=otitis%20externa, ORCID:0000-0001-5208-3432] |
— |
HP:0000372 |
| HPO |
HP:0410018 |
Recurrent ear infections |
"Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [ORCID:0000-0001-5208-3432] |
— |
HP:0002719 |
| HPO |
HP:0410019 |
Epigastric pain |
"Pain that is localized to the region of the upper abdomen immediately below the ribs." [https://www.healthgrades.com/symptoms/epigastric-pain, ORCID:0000-0001-5208-3432] |
— |
HP:0012531 |
| HPO |
HP:0410020 |
Fish odor |
"Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals." [http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm] |
— |
HP:0500001 |
| HPO |
HP:0410021 |
Musty odor |
"Pungent body odor." [] |
— |
HP:0500001 |
| HPO |
HP:0410022 |
Vaginal fish odor |
"A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA)." [PMID:16086821] |
— |
HP:0410020 |
| HPO |
HP:0410023 |
Abnormal distribution of cell junction proteins in buccal mucosal cells |
"An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43." [PMCID:PMC4785796] |
Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy. |
HP:0031476, HP:3000019 |
| HPO |
HP:0410026 |
Abnormal periodontium morphology |
"Any abnormality of the periodontium." [] |
— |
HP:0000164 |
| HPO |
HP:0410027 |
Alveolar bone loss around teeth |
"A decrease in the amount of alveolar bone around the root of a tooth." [] |
— |
HP:0410026 |
| HPO |
HP:0410028 |
Recurrent oral herpes |
"Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus." [] |
— |
HP:0005353 |
| HPO |
HP:0410030 |
Cleft lip |
"A gap in the lip or lips." [] |
— |
HP:0000202 |
| HPO |
HP:0410031 |
Submucous cleft of soft and hard palate |
"Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth." [http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/] |
— |
HP:0000175 |
| HPO |
HP:0410032 |
obsolete Cleft of uvula |
— |
— |
— |
| HPO |
HP:0410033 |
Unilateral alveolar cleft of maxilla |
"One sided alveolar cleft of the maxilla." [] |
— |
HP:0010289 |
| HPO |
HP:0410034 |
Bilateral alveolar cleft of maxilla |
"Nonmidline alveolar cleft of the maxilla." [] |
— |
HP:0010289 |
| HPO |
HP:0410035 |
Abnormal T cell activation |
"Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [] |
— |
HP:0011840 |
| HPO |
HP:0410042 |
Abnormal liver morphology |
"Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage." [MP:0000598] |
— |
HP:0001392 |
| HPO |
HP:0410043 |
Abnormal neural tube morphology |
"Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)." [MP:0002151] |
— |
HP:0002011 |
| HPO |
HP:0410049 |
Abnormality of radial ray |
— |
An abnormality of the radial ray; the thumb bones and 1st meta carpel. {xref="ORCID:0000-0002-9353-5498"} |
HP:0002813 |
| HPO |
HP:0410050 |
Decreased level of 1,5 anhydroglucitol in serum |
"A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues." [PMID:16731998, PMID:17659063, PMID:9357814] |
— |
HP:0011013 |
| HPO |
HP:0410051 |
Increased level of 3-hydroxy-3-methylglutaric acid in urine |
"An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine." [PMID:15505778, PMID:23705938] |
— |
HP:0003215 |
| HPO |
HP:0410052 |
Increased level of allantoin in serum |
"An increase in the level of allantoin in the serum." [PMID:18636793] |
— |
HP:0004364 |
| HPO |
HP:0410053 |
Elevated circulating gamma-aminobutyric acid concentration |
"An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation." [PMID:1485027, PMID:25485164] |
Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter known to counterbalance the action of the excitatory neurotransmitter glutamate. |
HP:0034025 |