Releases: obophenotype/human-phenotype-ontology
Releases · obophenotype/human-phenotype-ontology
2024-04-26 Release
New features
- Bugfix logical axioms in HPO
- Bugfix in HPOA which had missing relations
New content
Synonyms added: 7
| Term | New Synonym | Predicate |
|---|---|---|
| Amplification of relationship seeking (HP:5200315) | Increased seeking of relationships | oio:hasExactSynonym |
| Amplification of interpersonal communication (HP:5200311) | Increase in interpersonal communication | oio:hasExactSynonym |
| Amplification of emotional responsiveness (HP:5200323) | Increase in emotional responsiveness | oio:hasExactSynonym |
| Amplification of social interactions (HP:5200212) | Increase in social interactions | oio:hasExactSynonym |
| Amplification of sexual behavior (HP:5200321) | Increase in sexual behavior | oio:hasExactSynonym |
| Amplification of emotional expression (HP:5200322) | Increase in emotional expression | oio:hasExactSynonym |
| Amplification of comfort with casual physical contact (HP:5200325) | Increase in comfort with casual physical contact | oio:hasExactSynonym |
Nodes renamed: 7
| ID | Old Label | New Label |
|---|---|---|
| HP:5200315 | Increased seeking of relationships | Amplification of relationship seeking |
| HP:5200311 | Increase in interpersonal communication | Amplification of interpersonal communication |
| HP:5200323 | Increase in emotional responsiveness | Amplification of emotional responsiveness |
| HP:5200212 | Increase in social interactions | Amplification of social interactions |
| HP:5200321 | Increase in sexual behavior | Amplification of sexual behavior |
| HP:5200322 | Increase in emotional expression | Amplification of emotional expression |
| HP:5200325 | Increase in comfort with casual physical contact | Amplification of comfort with casual physical contact |
Full Changelog: v2024-04-19...v2024-04-26
2024-04-19 Release
New features
This hot-fix release fixes an error where certain genes were missing from the HPOA files.
Content changes
Synonyms added: 7
| Term | New Synonym | Predicate |
|---|---|---|
| Amplification of relationship seeking (HP:5200315) | Increased seeking of relationships | oio:hasExactSynonym |
| Amplification of interpersonal communication (HP:5200311) | Increase in interpersonal communication | oio:hasExactSynonym |
| Amplification of emotional responsiveness (HP:5200323) | Increase in emotional responsiveness | oio:hasExactSynonym |
| Amplification of social interactions (HP:5200212) | Increase in social interactions | oio:hasExactSynonym |
| Amplification of sexual behavior (HP:5200321) | Increase in sexual behavior | oio:hasExactSynonym |
| Amplification of emotional expression (HP:5200322) | Increase in emotional expression | oio:hasExactSynonym |
| Amplification of comfort with casual physical contact (HP:5200325) | Increase in comfort with casual physical contact | oio:hasExactSynonym |
Nodes renamed: 7
| ID | Old Label | New Label |
|---|---|---|
| HP:5200315 | Increased seeking of relationships | Amplification of relationship seeking |
| HP:5200311 | Increase in interpersonal communication | Amplification of interpersonal communication |
| HP:5200323 | Increase in emotional responsiveness | Amplification of emotional responsiveness |
| HP:5200212 | Increase in social interactions | Amplification of social interactions |
| HP:5200321 | Increase in sexual behavior | Amplification of sexual behavior |
| HP:5200322 | Increase in emotional expression | Amplification of emotional expression |
| HP:5200325 | Increase in comfort with casual physical contact | Amplification of comfort with casual physical contact |
Full Changelog: v2024-04-04...v2024-04-19
2024-04-04 Release
WARNING
This release has some issues with the HPOA files (the annotations), use https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2024-04-19 instead.
Content changes
Classes added: 22
| Term |
|---|
| Low tissue ferrochelatase activity (HP:6000697) |
| Low tissue ferrochelatase activity (HP:6000697) |
| Elevated urinary bile acid level (HP:6000701) |
| Elevated urinary bile acid level (HP:6000701) |
| Reduced breast milk zinc concentration (HP:6000700) |
| Reduced breast milk zinc concentration (HP:6000700) |
| Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000696) |
| Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000696) |
| Elevated urinary glyoxylic acid level (HP:6000702) |
| Elevated urinary glyoxylic acid level (HP:6000702) |
| Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695) |
| Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695) |
| Elevated circulating heptacarboxylporphyrin concentration (HP:6000698) |
| Elevated circulating heptacarboxylporphyrin concentration (HP:6000698) |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) |
| Elevated circulating 3-hydroxyanthranilic acid concentration (HP:6000703) |
| Elevated circulating 3-hydroxyanthranilic acid concentration (HP:6000703) |
| Elevated circulating CXCL9 concentration (HP:6000704) |
| Elevated circulating CXCL9 concentration (HP:6000704) |
| Aggravated by menstruation (HP:6000699) |
| Aggravated by menstruation (HP:6000699) |
Text definitions added: 11
| Term | New Text Definition |
|---|---|
| Low tissue ferrochelatase activity (HP:6000697) | Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme. |
| Elevated urinary bile acid level (HP:6000701) | The amount of bile acid in the urine, normalized for urine concentration, is above the upper limit of normal. |
| Reduced breast milk zinc concentration (HP:6000700) | The concentration of zink in breast milk is below the lower limit of normal. |
| Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000696) | The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal. |
| Elevated urinary glyoxylic acid level (HP:6000702) | The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate. |
| Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695) | Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. |
| Elevated circulating heptacarboxylporphyrin concentration (HP:6000698) | The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal. |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) | The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal. |
| Elevated circulating 3-hydroxyanthranilic acid concentration (HP:6000703) | The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal. |
| Elevated circulating CXCL9 concentration (HP:6000704) | The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal. |
| Aggravated by menstruation (HP:6000699) | Applied to a sign or symptom that is more severe during mensutruation. |
Nodes removed: 3
| Term |
|---|
| part_of |
| inheres_in |
| inheres_in_part_of |
Synonyms added: 5
| Term | New Synonym | Predicate |
|---|---|---|
| Elevated urinary glyoxylic acid level (HP:6000702) | Elevated urinary alpha-ketoacetic acid level | oio:hasExactSynonym |
| Elevated urinary glyoxylic acid level (HP:6000702) | Elevated urinary glyoxylate level | oio:hasExactSynonym |
| Elevated urinary glyoxylic acid level (HP:6000702) | Elevated urinary oxoacetic acid level | oio:hasExactSynonym |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) | Elevated circulating delta-1-pyrroline-5-carboxylate concentration | oio:hasExactSynonym |
| Elevated circulating CXCL9 concentration (HP:6000704) | Elevated circulating monokine induced by gamma-interferon concentration | oio:hasExactSynonym |
Text definitions changed: 1
| Term | Old Text Definition | New Text Definition |
|---|---|---|
| Anti-perilipin-1 antibody positivity (HP:6000380) | A pulmonary cavity is a gas-filled area of the lung in the center of a nodule or area of consolidation and may be clinically observed by use of plain chest radiography or computed tomography. Cavities are present in a wide variety of infectious and noninfectious processes. | The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1). |
Nodes renamed: 1
| ID | Old Label | New Label |
|---|---|---|
| HP:6000380 | CHANGE ME | Anti-perilipin-1 antibody positivity |
Relationships removed: 1
| Subject | Predicate | Object |
|---|---|---|
| Anti-perilipin-1 antibody positivity (HP:6000380) | subClassOf (rdfs:subClassOf) | Abnormal location of ears (HP:0000357) |
What's Changed
New Contributors
Full Changelog: v2024-04-03...v2024-04-04
Contributors
hrshdhgd
Assets 25
2024-04-03 Release
WARNING
This release has some issues with the HPOA files (the annotations), use https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2024-04-19 instead.
New features:
- All HPO labels and definitions have been normalised to American English. British English synonyms have been added systematically
New and updated content
Classes added: 466
| Term |
|---|
| Elevated erythrocyte galactose-1-phosphate concentration (HP:6000610) |
| Positive CSF varicella zoster antibody positivity (HP:0430141) |
| Elevated circulating lipoprotein X concentration (HP:6000566) |
| Low serum osmolality (HP:6000680) |
| PAS-positive lymphocyte vacuolization (HP:6000639) |
| Elevated urinary quinolinic acid level (HP:6000335) |
| Anti-intrinsic factor antibody positivity (HP:6000344) |
| Reduced circulating insulin-like growth factor 2 concentration (HP:6000404) |
| Elevated urinary 2-oxoisocaproic level (HP:6000599) |
| 3-5 finger cutaneous syndactyly (HP:6000505) |
| Elevated urine propionic acid level (HP:6000432) |
| Elevated urinary 3-hydroxyadipic acid level (HP:6000609) |
| Reduced tissue arginine:glycine amidinotransferase activity (HP:6000572) |
| Proximal to distal progression (HP:6000305) |
| Positive Mycobacterium avium sputum culture (HP:0430108) |
| Glomerular PLA2R immune-complex deposition (HP:6000669) |
| Elevated urine hyaluronic acid level (HP:6000391) |
| Elevated urinary N-methylhistamine level (HP:6000533) |
| Positive CSF VDRL test (HP:6000395) |
| Umbilical cord prolapse (HP:6000329) |
| Short esophagus (HP:6000382) |
| Positive oropharynx poliovirus nucleic acid test (HP:6000580) |
| Right ventricular regional akinesia (HP:6000665) |
| Abnormal circulating interleukin 12 concentration (HP:6000442) |
| Retroperitoneal mass (HP:6000285) |
| Anti-factor VIII antibody positivity (HP:6000494) |
| Reduced erythrocyte hexokinase activity (HP:6000559) |
| Mesenteric torsion (HP:6000632) |
| Mitral opening snap (HP:6000685) |
| Elevated circulating C12 acylcarnitine concentration (HP:0430143) |
| Reduced circulating interleukin 12 concentration (HP:6000487) |
| Elevated urinary 2-oxovaleric acid level (HP:6000600) |
| Positive Bartonella henselae nucleic acid test in the blood circulation (HP:6000550) |
| Prevertebral space enlargement (HP:6000290) |
| Reduced tissue mannosyl-oligosaccharide glucosidase activity (HP:6000576) |
| Bone marrow monocytosis (HP:6000641) |
| Ectopic testis (HP:6000460) |
| Paravertebral mass (HP:6000660) |
| Elevated CSF 14-3-3 protein concentration (HP:6000689) |
| Positive synonvial fluid infectious agent test (HP:6000581) |
| Occipital cortex localization (HP:0430132) |
| Flank mass (HP:6000363) |
| Excessive blood loss during delivery (HP:6000325) |
| Retracted tympanic membrane (HP:6000459) |
| Mosaic attenuation pattern in lung (HP:6000317) |
| Spinal lipoma (HP:6000590) |
| Decreased circulating carboxypeptidase N activity (HP:6000560) |
| Anti-factor V antibody positivity (HP:6000492) |
| Squamosal suture synostosis (HP:6000612) |
| Exposure to cosmetic fragrances (HP:6000636) |
| Nasal secretion eosinophilia (HP:0430119) |
| Elevated circulating ghrelin concentration (HP:6000436) |
| Increased circulating interleukin 1beta concentration (HP:6000374) |
| Decreased FOXP3-expressing T cell count (HP:6000473) |
| Abnormal circulating CC chemokine concentration (HP:6000446) |
| Elevated circulating vasoactive intestinal peptide concentration (HP:6000564) |
| Perimenopausal onset (HP:6000314) |
| Elevated urine N-acetyltyrosine level (HP:6000479) |
| Positive synonvial fluid culture (HP:6000582) |
| Sulfur-containing abscess (HP:6000458) |
| Radioulnar subluxation (HP:6000506) |
| Bloodstream Malaria parasite (HP:6000553) |
| Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine (HP:6000330) |
| Elevated urinary coproporphyrin level (HP:6000536) |
| Elevated urinary beta-alanine level (HP:6000276) |
| Antiparietal cell antibody positivity (HP:6000343) |
| Positive CSF JC-virus nucleic acid test (HP:6000552) |
| Recent temporal region trauma (HP:6000626) |
| Temporal artery giant cells (HP:6000618) |
| Elevated urine trihydroxycholestanoic acid level (HP:6000393) |
| Past surgical history (HP:0430103) |
| Positive bloodstream Cysticercosis antigen test (HP:0430110) |
| Elevated urinary methylmalonylcarnitine level (HP:6000392) |
| Seminal vesicle agenesis (HP:0430121) |
| Reduced muscle glycogen debrancher enzyme activity (HP:6000616) |
| Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts (HP:6000426) |
| Scalloped appearance of liver surface (HP:6000628) |
| Reduced erythrocyte inosine triphosphatase activity (HP:6000511) |
| Duplicate uterine cervix (HP:6000414) |
| Anti-factor X antibody positivity (HP:6000496) |
| Reduced tissue carnitine-acylcarnitine translocase activity (HP:6000574) |
| Bone arteriovenous malformation (HP:6000587) |
| Increased circulating interleukin 15 concentration (HP:6000439) |
| Anti-ADAMTS13 antibody positivity (HP:6000462) |
| Right ventricular regional wall motion abnormality (HP:6000664) |
| Left atrial fibrosis (HP:6000691) |
| Reduced tissue medium-chain acyl-CoA dehydrogenase activity (HP:6000356) |
| Elevated urinary pyrroline hydroxycarboxylic acid level (HP:6000620) |
| Muscle arteriovenous malformation (HP:6000586) |
| Elevated urinary histamine level (HP:6000532) |
| Reduced neutrophil myeloperoxidase activity (HP:6000375) |
| Reduced tissue aspartylglucosaminidase activity (HP:6000573) |
| Positive human Immunodeficiency virus nucleic acid test in the blood circulation (HP:6000546) |
| Elevated urinary 3-hydroxypentanoic acid level (HP:6000604) |
| Antistreptolysin O antibody positivity (HP:6000348) |
| Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity (HP:6000555) |
| Anti-beta fodrin antibody positivity (HP:6000475) |
| High serum osmolality (HP:6000681) |
| Elevated circulating complement C3 concentration (HP:0430146) |
| Abnormal serum osmolality (HP:6000679) |
| Elevated urinary ureidopropionic acid level (HP:6000534) |
| Anti-factor H antibody positivity (HP:6000499) |
| 4-5 toe cutaneous syndactyly (HP:6000503) |
| Ovarian cystadenoma (HP:6000672) |
| Elevated CSF cystathionine concentration (HP:6000280) |
| Maxillary cyst (HP:6000594) |
| History of facial cosmetic use (HP:6000297) |
| Tectal plate enlargement (HP:6000284) |
| Meteorism (HP:6000319) |
| Elevated urine manganese level (HP:6000480) |
| Primary peritoneal serous papillary adenocarcinoma (HP:0430116) |
| Reduced urinary iodine level (HP:6000438) |
| Abnormal circulating interleukin 6 concentration (HP:6000441) |
| Fetal oral mass (HP:6000470) |
| Elevated urinary N-carbamoyl-beta-alanine level (HP:6000279) |
| Ductus venosus agenesis with intrahepatic drainage (HP:6000369) |
| Thickened Descemet membrane (HP:6000312) |
| Orbital inflammation (HP:6000614) |
| Lipid-laden bone-marrow macrophages (HP:6000640) |
| Anti-lamin C antibody positivity (HP:6000644) |
| Elevated blood cadmiun concentration (HP:6000444) |
| Elevated urinary L-glycerate level (HP:6000670) |
| Poly-hill sign (HP:6000504) |
| Positive CSF arbovirus nucleic acid test (HP:6000549) |
| Tympanic membrane bulla (HP:6000422) |
| Anti-von Willebrand factor antibody positivity (HP:6000676) |
| Elevated circulating beta chorionic gonadotropin concentration (HP:6000485) |
| Anti-factor XI antibody positivity (HP:6000497) |
| Positive stool Giardia antigen test (HP:6000324) |
| Elevated tissue sphingomyelin concentration (HP:6000292) |
| Phlebolith (HP:6000661) |
| Gastrocnemius contracture (HP:6000366) |
| Femoral neck fracture (HP:6000655) |
| Burning eye sensation (HP:6000420) |
| Elevated urinary N-tau-ribosylhistidine level (HP:6000621) |
| Low maternal vitamin B12 concentration (HP:6000518) |
| Breast myxoma (HP:6000671) |
| Absent zona pellucida (HP:6000328) |
| Incomplete right bundle branch block (HP:6000313) |
| Elevated muscle fiber laminin alpha 5 expression (HP:6000659) |
| Positive skin infectious agent test (HP:0430117) |
| Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells (HP:6000472) |
| Sweating and flushing in the preauricular area in response to mastication (HP:6000637) |
| Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts (HP:6000619) |
| Elevated circulating inhibin A concentration (HP:6000519) |
| Elevated urine 3-methyladipic acid level (HP:6000466) |
| Non-glucose reducing substance in urine (HP:6000389) |
| Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts (HP:6000427) |
| History of recent stay in area with inadequate sewage sanitation (HP:6000540) |
| Skip lesions on temporal artery biopsy (HP:0430105) |
| Parietal cortex localization (HP:0430131) |
| Elevated urinary 2-methyl-3-hydroxybutyric acid level (HP:6000603) |
| Decreased skin turgor (HP:6000303) |
| 3-4 toe cutaneous syndactyly (HP:6000648) |
| Thoracic cage flatness (HP:6000327) |
| Positive bloodstream infectious agent antigen test (HP:0430109) |
| Postmenopausal onset (HP:6000315) |
| Head impulse test has corrective saccade (HP:0430122) |
| Positive skin fungus test (HP:0430118) |
| Gallbladder adhesions (HP:6000452) |
| Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration (HP:6000406) |
| Posterior fossa localization (HP:0430129) |
| Abnormal circulating hepatic transaminase concentration (HP:0430135) |
| Reduced tissue tissue AICAR transformylase activity (HP:6000349) |
| Cardiac valve vegetations (HP:6000326) |
| Synovial cyst (HP:6000364) |
| Reduced sympathoneural responses to the cold pressor test (HP:6000323) |
| Nasal secretion neutrophilia (HP:0430120) |
| Decreased circulating cat... |
Contributors
matentzn and LCCarmody
Assets 25
2024-03-06 Release
New Content
List of new terms
| term id | term label |
|---|---|
| HP:6000347 | Anti-NR2A antibody positivity |
| HP:6000346 | Anti-polio virus antibody positivity |
| HP:6000345 | Anti-human immunodeficiency virus antibody positivity |
| HP:6000344 | Anti-intrinsic factor antibody positivity |
| HP:6000351 | Anti-coagulation factor antibody positivity |
| HP:6000350 | Ameliorated by gastric acid-reducing therapy |
| HP:6000349 | Reduced tissue tissue AICAR transformylase activity |
| HP:6000348 | Antistreptolysin O antibody positivity |
| HP:6000339 | Small fetal abdominal circumference |
| HP:6000338 | Seminal vesicle hypoplasia |
| HP:6000337 | Thinned small intestinal mucosa |
| HP:6000336 | Rectal duplication |
| HP:6000343 | Antiparietal cell antibody positivity |
| HP:6000342 | Thickened mitral valve cusp |
| HP:6000341 | Snowflake effect in amniotic cavity |
| HP:6000340 | Prenatal flattened diaphragm |
| HP:6000331 | Elevated urinary thymine level |
| HP:6000330 | Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine |
| HP:6000329 | Umbilical cord prolapse |
| HP:6000328 | Absent zona pellucida |
| HP:6000335 | Elevated urinary quinolinic acid level |
| HP:6000334 | Reduced hepatic ornithine transcarbamylase activity |
| HP:6000333 | Reduced hepatic phosphorylase kinase activity |
| HP:6000332 | Elevated urinary indoleacetic acid level |
| HP:6000323 | Reduced sympathoneural responses to the cold pressor test |
| HP:6000322 | Absent axon flare response after intradermal histamine injection |
| HP:6000321 | Labile Hypertension |
| HP:6000320 | Failure to elevate ammonia on ischemic exercise |
| HP:6000327 | Thoracic cage flatness |
| HP:6000326 | Cardiac valve vegetations |
| HP:6000325 | Excessive blood loss during delivery |
| HP:6000324 | Positive stool Giardia antigen test |
| HP:6000379 | Pancreatic arteriovenous malformation |
| HP:6000378 | Delayed scintigraphic gallbladder filling |
| HP:6000377 | Intramural intestinal gas |
| HP:6000376 | Jugular foramen stenosis |
| HP:6000383 | Gastric perforation |
| HP:6000382 | Short esophagus |
| HP:6000381 | Splenic calcification |
| HP:6000380 | CHANGE ME |
| HP:6000371 | Elevated circulating D-glyceric concentration |
| HP:6000370 | Ductus venosus agenesis with extrahepatic drainage and liver bypass |
| HP:6000369 | Ductus venosus agenesis with intrahepatic drainage |
| HP:6000368 | Sonographic renal salt and pepper pattern |
| HP:6000375 | Reduced neutrophil myeloperoxidase activity |
| HP:6000374 | Increased circulating interleukin 1beta concentration |
| HP:6000373 | Ameliorated by riboflavin |
| HP:6000372 | Elevated CSF D-glyceric acid concentration |
| HP:6000363 | Flank mass |
| HP:6000362 | Blunted aldosterone response to aldosterone suppression test |
| HP:6000361 | Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts |
| HP:6000360 | Reduced tissue alpha-N-acetylglucosaminidase activity |
| HP:6000367 | Central thinning of the outer nuclear layer of the retina |
| HP:6000366 | Gastrocnemius contracture |
| HP:6000365 | Brown pigmentation of the conjunctiva |
| HP:6000364 | Synovial cyst |
| HP:6000355 | Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts |
| HP:6000354 | Reduced aspartoacylase activity in cultured fibroblasts |
| HP:6000353 | Reduced tissue argininosuccinate synthetase activity |
| HP:6000352 | Tachyphagia |
| HP:6000359 | Reduced muscle 6-phosphofructokinase activity |
| HP:6000358 | Reduced muscle glycogen phosphorylase activity |
| HP:6000357 | Reduced cystathionine beta-synthase activity in cultured fibroblasts |
| HP:6000356 | Reduced tissue medium-chain acyl-CoA dehydrogenase activity |
| HP:6000283 | Elevated urinary saccharopine level |
| HP:6000282 | Elevated circulating aspartylglucosamine concentration |
| HP:6000281 | Elevated urinary gamma-glutamylphenylalanine level |
| HP:6000280 | Elevated CSF cystathionine concentration |
| HP:6000287 | Subchondral fracture |
| HP:6000286 | Focal T1 hyperintense brainstem lesion |
| HP:6000285 | Retroperitoneal mass |
| HP:6000284 | Tectal plate enlargement |
| HP:6000279 | Elevated urinary N-carbamoyl-beta-alanine level |
| HP:6000278 | Elevated circulating 2-aminoadipic acid concentration |
| HP:6000277 | Elevated CSF beta-alanine concentration |
| HP:6000276 | Elevated urinary beta-alanine level |
| HP:6000315 | Postmenopausal onset |
| HP:6000314 | Perimenopausal onset |
| HP:6000313 | Incomplete right bundle branch block |
| HP:6000312 | Thickened Descemet membrane |
| HP:6000319 | Meteorism |
| HP:6000318 | Elevated aldosterone:renin ratio |
| HP:6000317 | Mosaic attenuation pattern in lung |
| HP:6000316 | Spastic monoplegia |
| HP:6000307 | Jaw mass |
| HP:6000306 | Autonomic-voluntary dissociation of facial movements ... |
Contributors
matentzn and LCCarmody
Assets 25
2024-02-08 Release
New terms
| term id | term label |
|---|---|
| HP:6000219 | Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts |
| HP:6000218 | Reduced circulating xanthine oxidase activity |
| HP:6000217 | Reduced circulating acyl-CoA oxidase activity |
| HP:6000216 | Reduced HMG-CoA lyase activity in cultured fibroblasts |
| HP:6000223 | Recent history of caustic substance ingestion |
| HP:6000222 | Painful defecation |
| HP:6000221 | Positive stool occult blood test |
| HP:6000220 | Pharyngeal mass |
| HP:6000211 | Elevated CSF dihydrouracil concentration |
| HP:6000210 | Elevated CSF N-carbamyl-beta-alanine concentration |
| HP:6000209 | Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration |
| HP:6000208 | Elevated CSF 5-hydroxymethyluracil concentration |
| HP:6000215 | Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity |
| HP:6000214 | Decreased 3-hydroxyisobutyrate dehydrogenase activity |
| HP:6000213 | Elevated circulating Angiotensin-converting enzyme concentration |
| HP:6000212 | Elevated CSF dihydrothymine concentration |
| HP:6000203 | Elevated CSF cholestanol concentration |
| HP:6000202 | Cerebrospinal fluid erythrocytes |
| HP:6000201 | Reduced hepatic glucose-6-phosphate translocase activity |
| HP:6000200 | Reduced hepatic glucose-6-phosphatase activity |
| HP:6000207 | Elevated CSF thymine concentration |
| HP:6000206 | Reduced CSF pyridoxal-5'-phosphate concentration |
| HP:6000205 | Elevated CSF myelin basic protein concentration |
| HP:6000204 | Elevated CSF apolipoprotein B concentration |
| HP:6000195 | Elevated mitochondrial citrate synthase synthase activity |
| HP:6000194 | History of adrenalectomy |
| HP:6000193 | Anti-osteoprotegerin antibody positivity |
| HP:6000192 | Silica dust exposure |
| HP:6000199 | Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts |
| HP:6000198 | Reduced muscle phosphorylase kinase activity |
| HP:6000197 | Reduced muscle phosphoglycerate mutase activity |
| HP:6000196 | Reduced muscle lactate dehydrogenase activity |
| HP:6000251 | Small intestinal intraepithelial lymphocytosis |
| HP:6000250 | Gastric intraepithelial lymphocytosis |
| HP:6000249 | Enlarged gastric folds |
| HP:6000248 | Synovial fluid crystals |
| HP:6000255 | Demonstration of Leishmania in tissue |
| HP:6000254 | Abnormal proximal convoluted tubule morphology |
| HP:6000253 | Necrotizing vasculitis |
| HP:6000252 | Fetal lung hyperechogenicity |
| HP:6000243 | Reduced circulating cortisol-binding globulin concentration |
| HP:6000242 | Decreased circulating complement component 1s concentration |
| HP:6000241 | Diminished prolactin response to thyrotrophin-releasing hormone stimulation |
| HP:6000240 | Reduced circulating pyrimidine 5-prime-nucleotidase activity |
| HP:6000247 | Esophageal mass |
| HP:6000246 | Elevated CSF D-2-hydroxyglutaric acid concentration |
| HP:6000245 | Elevated circulating granulocyte-macrophage colony-stimulating factor concentration |
| HP:6000244 | Decreased circulating thyroglobulin concentration |
| HP:6000235 | Inappropriately low concentration of acetoacetate |
| HP:6000234 | Elevated circulating dihydroxyphenylacetic acid concentration |
| HP:6000233 | Carcinoid tumor of the pancreas |
| HP:6000232 | Splenic necrosis |
| HP:6000239 | Elevated circulating tumor necrosis factor alpha concentration |
| HP:6000238 | Elevated CSF 5-amino-4-imidazolecarboxyamide concentration |
| HP:6000237 | Elevated circulating 3-hydroxybutyryl-carnitine concentration |
| HP:6000236 | Iappropriately low concentration of beta-hydroxybutyrate |
| HP:6000227 | Prosthetic heart valve |
| HP:6000226 | Elevated aortic transvalvular pressure gradient |
| HP:6000225 | Single second heart sound |
| HP:6000224 | Delayed passage of meconium |
| HP:6000231 | Abnormal tissue enzyme activity |
| HP:6000230 | Decreased muscle caveolin-3 level |
| HP:6000229 | High-set nipples |
| HP:6000228 | Failure to increase oxygen saturation on hyperoxia test |
| HP:6000187 | Anti-thrombospondin type I domain-containing 7A antibody positivity |
| HP:6000186 | Anti-soluble liver antigen/liver pancreas antibody positivity |
| HP:6000185 | Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio |
| HP:6000184 | Filum terminale lipoma |
| HP:6000191 | Seminal vesicle cyst |
| HP:6000190 | Abnormal seminal vesicle morphology |
| HP:6000189 | Decreased circulating ficolin 3 concentration |
| HP:6000188 | Antisperm antibody positivity |
| HP:6000179 | History of gastric bypass surgery |
| HP:6000178 | Purulent drainage from Stensen duct |
| HP:6000177 | Uvular swelling |
| HP:6000176 | Anterior neck swelling |
| HP:6000183 | Thickened tympanic membrane |
| HP:6000182 | Absent otoacoustic emissions |
| HP:6000181 | History of radiation therapy |
| HP:6000180 | Triggered by volatile organic compounds |
| HP:6000175 | Occipital location |
| HP:6000174 | Lateral neck mass |
| HP:6000173 | Ear pain exacerbated by manipulating tragus or pinna |
| HP:6000172 | Tympanic membrane bulging |
| HP:6000275 | 4-hydroxyphenyllactic aciduria |
| HP:6000274 | 2--hydroxyphenylacetic aciduria |
| HP:6000273 | Elevated circulating decanoylcarnitine concentration |
| HP:6000272 | Elevated circulating octanoylcarnitine concentration |
| HP:6000267 | Elevated circulating methionine sulfoxide concentration |
| HP:6000266 | 2-oxoadipic aciduria |
| HP:6000265 | Elevated urinary 3-hydroxykynurenine level |
| HP:6000264 | Fetal tachycardia |
| HP:6000271 | Elevated circulating glycylproline concentration |
| HP:6000270 | Elevated CSF saccharopine concentration ... |
Contributors
matentzn
Assets 22
2024-01-16 Release
Important note about this release
This "patch release" was necessary due to two lost subclass axioms ("Cleft lower alveolar ridge" and "Cleft lip") in the previous release. Please use today's release instead of https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2024-01-11.
New HPO terms
| term id | term label |
|---|---|
| HP:6000171 | Abdominal wall mass |
| HP:6000170 | Pain alleviated by testicle elevation |
| HP:6000169 | History of total parenteral nutrition dependence |
| HP:6000168 | History of recent central venous catheter |
| HP:6000163 | Shoulder localization |
| HP:6000162 | Excessive licorice consumption |
| HP:6000167 | Use of intrauterine device |
| HP:6000166 | Maternal zinc deficiency |
| HP:6000165 | Maternal folate deficiency |
| HP:6000164 | Pregnancy conceived despite intrauterine device |
Full Changelog: v2024-01-11...v2024-01-16
2024-01-11 Release
Important note about this release
A "patch release" was necessary due to two lost subclass axioms ("Cleft lower alveolar ridge" and "Cleft lip") in the this release. Please use this release instead: https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2024-01-16.
New Terms
| HPO ID | HPO Label |
|---|---|
| HP:4000214 | Diminished breath sounds |
| HP:6000091 | Postpartum exacerbation |
| HP:6000090 | Dermal flame figures |
| HP:6000089 | Brown tumor |
| HP:6000088 | Reduced muscle alpha-1,4-glucosidase activity |
| HP:6000095 | Draining sinus tract in skin |
| HP:6000094 | History of outdoor activities |
| HP:6000093 | Propylthiouracil exposure |
| HP:6000092 | Retinoid exposure |
| HP:6000083 | Reduced hepatic dihydropyrimidinase activity |
| HP:6000082 | Reduced hepatic beta-ureidopropionase activity |
| HP:6000081 | Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts |
| HP:6000080 | Reduced phosphoserine phosphatase activity in cultured fibroblasts |
| HP:6000087 | Penile swelling |
| HP:6000086 | History of urethral procedure or catheterization |
| HP:6000085 | Angulation of penis |
| HP:6000084 | Sunken fontanelle |
| HP:6000075 | Subcutaneous arteriolar thrombosis |
| HP:6000074 | Pharyngeal myxoma |
| HP:6000073 | Renal lymphangiectasia |
| HP:6000072 | Thinning of outer muscular layer of small bowel |
| HP:6000079 | Metachromatic intraneuronal lipid deposits |
| HP:6000078 | Nasal hamartoma |
| HP:6000077 | Pancreatic islet beta cell iron deposition |
| HP:6000076 | Renal vasculitis |
| HP:6000067 | Increased myocardial pyrophosphate uptake |
| HP:6000066 | Triggered by extension of leg |
| HP:6000065 | Esophageal fibrosis |
| HP:6000064 | Excessive eructation |
| HP:6000071 | Heterotopic dermal ossification |
| HP:6000070 | Cutaneous granuloma |
| HP:6000069 | Brief tear break-up time |
| HP:6000068 | Ameliorated by nerve block |
| HP:6000123 | Elevated urinary 2'-deoxyadenosine level |
| HP:6000122 | Increased urinary N-acetylglucosamine-rich oligosaccharide level |
| HP:6000121 | Elevated urinary xanthurenic acid level |
| HP:6000120 | Elevated urinary sulfatide level |
| HP:6000127 | Elevated urinary creatine/creatinine ratio |
| HP:6000126 | Decreased urinary bile acid level |
| HP:6000125 | Elevated urinary dolichol level |
| HP:6000124 | Positive 2,4-dinitrophenylhydrazine urine test |
| HP:6000115 | Decreased urine creatinine level |
| HP:6000114 | Elevated urinary 5-hydroxymethyluracil level |
| HP:6000113 | Elevated urinary succinyladenosine level |
| HP:6000112 | Hockey-stick palmar crease |
| HP:6000119 | Elevated urinary dihydrothymine level |
| HP:6000118 | Elevated urinary dihydrouracil level |
| HP:6000117 | Elevated urinary AICA-riboside level |
| HP:6000116 | Elevated urinary deoxyuridine level |
| HP:6000107 | Cervical motion tenderness |
| HP:6000106 | Costovertebral angle tenderness |
| HP:6000105 | Vaginal mass |
| HP:6000104 | Twin pregnancy |
| HP:6000111 | Monoarticular |
| HP:6000110 | Large joint predominance |
| HP:6000109 | Supernumerary finger flexion crease |
| HP:6000108 | Abnormal penile discharge |
| HP:6000099 | Airway mucosal thickening |
| HP:6000098 | Contact lens wearer |
| HP:6000097 | Spontaneous lens capsule rupture |
| HP:6000096 | Corneal transplant history |
| HP:6000103 | Precipitous labor |
| HP:6000102 | Breast intraductal papilloma |
| HP:6000101 | Corneopalpebral synechiae |
| HP:6000100 | Hyperpolarized transepithelial nasal potential difference |
| HP:6000027 | Oil-drop brown pigmentation of the corneal limbus |
| HP:6000026 | History of spicy food intake |
| HP:6000025 | Dark cerumen |
| HP:6000024 | Synesthesia |
| HP:6000031 | Phaeohyphomycosis |
| HP:6000030 | Placidity |
| HP:6000029 | Social Anxiety |
| HP:6000028 | Hazardous alcohol use |
| HP:6000019 | Anthracycline exposure |
| HP:6000018 | Internal anal sphincter achalasia |
| HP:6000017 | Elevated circulating soluble FASL concentration |
| HP:6000016 | Elevated circulating vitamin B12 concentration |
| HP:6000023 | Lack of sufficient daily physical activity |
| HP:6000022 | Collagenoma |
| HP:6000021 | Decreased circulating thrombopoietin concentration |
| HP:6000020 | Binge drinking |
| HP:6000011 | Excessive guilt |
| HP:6000010 | Linear Hyperpigmentation along Blaschko's lines |
| HP:6000009 | Cerebriform connective tissue nevus |
| HP:6000008 | Hemidiaphragm elevation |
| HP:6000015 | Tympanic membrane hypermobility |
| HP:6000014 | Pain worse when lying flat ... |
Contributors
nlharris, pnrobinson, and 3 other contributors
Assets 22
2023-10-09 Release
New Terms
| term id | term label |
|---|---|
| HP:4000189 | Elevated circulating neuron-specific enolase concentration |
| HP:4000191 | Increased circulating alpha-mannosidase activity |
| HP:4000190 | Reduced leukocyte alpha-mannosidase activity |
| HP:4000213 | Elevated circulating hyaluronic acid concentration |
| HP:4000212 | Increased circulating vitamin A concentration |
| HP:4000209 | Abnormal erythrocyte adenosine deaminase activity |
| HP:4000208 | Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity |
| HP:4000211 | Reduced glycerol kinase activity in cultured fibroblasts |
| HP:4000210 | Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts |
| HP:4000205 | Reduced beta-mannosidase activity in cultured fibroblasts |
| HP:4000204 | Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts |
| HP:4000207 | Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts |
| HP:4000206 | Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts |
| HP:4000201 | Abnormal circulating alpha mannosidase activity |
| HP:4000200 | Reduced holocarboxylase synthetase activity in cultured fibroblasts |
| HP:4000203 | Reduced erythrocyte arginase activity |
| HP:4000202 | Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts |
| HP:4000197 | Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts |
| HP:4000196 | Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts |
| HP:4000199 | Reduced erythrocyte porphobilinogen deaminase activity |
| HP:4000198 | Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts |
| HP:4000193 | Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity |
| HP:4000192 | Reduced leukocyte cathepsin D activity |
| HP:4000195 | Abnormal enzyme activity in cultured fibroblasts |
| HP:4000194 | Pseudohyperkalemia |
| HP:0020224 | Mammary duct ectasia |
| HP:0020225 | Breast abscess |
| HP:0020226 | Nipple tenderness |
| HP:0020227 | Floating gallbladder |
| HP:5200207 | Inattentiveness illusion |
| HP:5200205 | Illusions |
| HP:5200204 | Disturbed perception with a stimulus |
| HP:5200203 | Proprioceptive hallucination |
| HP:5200202 | Abnormal interpretation of external stimuli |
| HP:5200201 | Gustatory hallucination |
| HP:5200200 | Olfactory hallucination |
| HP:5200221 | Decreased comfort with casual physical contact |
| HP:5200220 | Decreased facial expression reciprocity |
| HP:5200218 | Derealization |
| HP:5200217 | Depersonalization |
| HP:5200216 | Abnormal perceptual state |
| HP:5200215 | Visceral hallucination |
| HP:5200214 | Somatic hallucination |
| HP:5200213 | Decreased emotional vulnerability |
| HP:5200212 | Increased social interactions |
| HP:5200211 | Subjective eidetic images |
| HP:5200210 | Autoscopy |
| HP:5200209 | Pareidolia |
| HP:5200208 | Illusions due to affect |
| HP:5200239 | Consonant expressive impediment |
| HP:5200238 | Vowel expressive impediment |
| HP:5200237 | Pronunciation difficulties |
| HP:5200235 | Thought disorder |
| HP:5200234 | Flight of ideas |
| HP:5200233 | Anticipatory anxiety |
| HP:5200232 | Phobia |
| HP:5200231 | Hypervigilance |
| HP:5200230 | Maladaptive fear-related cognitions |
| HP:5200227 | Thought blocking |
| HP:5200243 | Abnormal change in social behavior |
| HP:5200242 | Cognitive distortion |
| HP:5200241 | Recurrent maladaptive behavior |
| HP:5200240 | Delayed spoken language comprehension |
| HP:5200335 | Addictive sex behavior |
| HP:5200334 | Addictive gambling behavior |
| HP:5200333 | Addictive spending behavior |
| HP:5200332 | Addictive non-substance behaviors |
| HP:5200331 | Addictive sedative use |
| HP:5200330 | Suicide behaviors |
| HP:5200329 | Problematic alcohol consumption |
| HP:5200328 | Decreased emotional expression |
| HP:5200327 | Decreased sexual behavior |
| HP:5200325 | Increased comfort with casual physical contact |
| HP:5200323 | Increased emotional vulnerability |
| HP:5200322 | Increased emotional expression |
| HP:5200321 | Increased sexual behavior |
| HP:5200320 | Decreased seeking of relationships |
| HP:5200342 | Autophagia |
| HP:5200341 | Addictive cannabis use |
| HP:5200339 | Self-cutting |
| HP:5200338 | Excessive fire setting |
| HP:5200337 | Compulsive stealing |
| HP:5200336 | Addictive video game use |
| HP:5200363 | Prolonged NREM sleep |
| HP:5200362 | Short NREM sleep |
| HP:5200361 | Prolonged rem sleep |
| HP:5200360 | Short rem sleep |
| HP:5200359 | Prolonged N3 sleep |
| HP:5200358 | Prolonged N2 sleep |
| HP:5200357 | Prolonged N1 sleep |
| HP:5200356 | Sleep onset rapid eye movement period |
| HP:5200353 | Hypnopompic sle... |
Contributors
matentzn
Assets 22
2023-09-01 Release
New features
- The Japanese and Spanish translations have been added to HPO! The Japanese Language profiles were developed by GEM Japan Clinical Phenotype group for the purpose of precise phenotyping of patients in genome projects. Expert translation by clinical geneticists and AI translation were utilized. It has been used widely in clinical genome projects for rare diseases in Japan. The Spanish translation is a collaboration by
- INGEMM- Institute of Medical and Molecula Genetics-Hospital Univ. La Paz, IdiPAZ and CIBER, Madrid, Spain
- CIACER y Laboratorio de Medicina Genómica, Universidad Icesi, Cali, Colombia
- Instituto de Genética Humana, Facultad de Medicina, Bogotá, Colombia
- Department of Pediatrics, Hospital Univ. Doce de Octubre, Madrid, Spain
- Grupo de Investigación en Enfermedades Raras, Laboratorio de (Epi)Genética Molecular, BioAraba, Hospital Univ.Araba - Txagorritxu. Spain.
New terms
| term id | term label |
|---|---|
| HP:0035015 | Elevated circulating short-chain acylcarnitine concentration |
| HP:0035016 | Elevated circulating C4 acylcarnitine concentration |
| HP:0035017 | Elevated circulating medium-chain acylcarnitine concentration |
| HP:0035018 | Elevated circulating long-chain acylcarnitine concentration |
| HP:0035019 | Elevated circulating C5 acylcarnitine concentration |
| HP:0035020 | Elevated circulating C18 acylcarnitine concentration |
| HP:0035021 | Elevated circulating C16 acylcarnitine concentration |
| HP:0035022 | Elevated circulating very long-chain acylcarnitine concentration |
| HP:0035023 | Elevated circulating acetylcarnitine concentration |
| HP:0035024 | Elevated circulating methylmalonylcarnitine concentration |
| HP:0035025 | Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration |
| HP:0035026 | Elevated circulating C6 acylcarnitine concentration |
| HP:0035027 | Elevated circulating methylglutarylcarnitine concentration |
| HP:0035028 | Elevated circulating 3-hydroxyisovalerylcarnitine concentration |
| HP:0035029 | Elevated circulating 3-hydroxyhexanoylcarnitine concentration |
| HP:0035030 | Elevated circulating carnitine concentration |
| HP:0035031 | Elevated circulating tiglylcarnitine concentration |
| HP:0035032 | Reduced circulating acetylcarnitine concentration |
| HP:0035033 | Reduced circulating octadecenoylcarnitine concentration |
| HP:4000187 | Spermatogonial maturation arrest |
Other changes
- Remove a few new-line characters in comments and definitions by @matentzn in #9937
- remove assertion that abn digestive system is child of neoplasm by @LCCarmody in #10019
- Adding Japanese and Spanish language translations to HPO by @matentzn in #10009
- Rename contralateral injury by @matentzn in #10022
- Refresh imported terms by @matentzn in #10059
Full Changelog: v2023-07-21...v2023-09-01
Contributors
matentzn and LCCarmody