Releases: obophenotype/human-phenotype-ontology
Releases · obophenotype/human-phenotype-ontology
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
Assets 22
2023-07-21 Release
New terms
| term id | term label |
|---|---|
| HP:0034794 | Pyriform sperm head |
| HP:0034795 | Excess residual spermatozoal cytoplasm |
| HP:0034796 | Cardiomyocyte hyaline bodies |
| HP:0034797 | Hepatic hemophagocytosis |
| HP:0034798 | CSF hemophagocytosis |
| HP:0034799 | Splenic hemophagocytosis |
| HP:0034800 | Urinary bladder granulomatosis |
| HP:0034801 | Epidermal necrosis |
| HP:0034802 | Exacerbated by flexion |
| HP:0034803 | Hemolacria |
| HP:0034804 | Corneal foreign body sensation |
| HP:0034805 | Buttock pain |
| HP:0034806 | Vaginal foreign body sensation |
| HP:0034807 | Paroxysmal nocturnal dyspnea |
| HP:0034808 | Eyelid pain |
| HP:0034809 | Abnormal sperm physiology |
| HP:0034810 | Small acrosomal area |
| HP:0034811 | Bent sperm flagella |
| HP:0034812 | Spermiation failure |
| HP:0034813 | Hypospermatogenesis |
| HP:0034814 | Conjunctival membrane |
| HP:0034815 | Extreme oligozoospermia |
| HP:0034816 | Mild oligozoospermia |
| HP:0034817 | Moderate oligozoospermia |
| HP:0034818 | Severe oligozoospermia |
| HP:0034819 | Iris nodule |
| HP:0034820 | Koeppe nodules |
| HP:0034821 | Bussaca nodules |
| HP:0034822 | Abnormal CSF ion concentration |
| HP:0034823 | Decreased CSF copper concentration |
| HP:0034824 | Diffuse pulmonary lymphoid hyperplasia |
| HP:0034825 | Ameliorated by steroid medication |
| HP:0034826 | Triggered by medication exposure |
| HP:0034827 | Triggered by levothyroxin exposure |
| HP:0034828 | Reduced muscle laminin alpha-2 chain staining |
| HP:0034829 | Adrenal cortical sclerosis |
| HP:0034830 | Reduced hepatic fructose-1,6-phosphate aldolase activity |
| HP:0034831 | Pancreatic hamartoma |
| HP:0034832 | Liver angiomyolipoma |
| HP:0034833 | Cardiac lipoma |
| HP:0034834 | Peripheral nerve polyglucosan inclusion bodies |
| HP:0034835 | Cardiac polyglucosan accumulation |
| HP:0034836 | Cystic nephroma |
| HP:0034837 | Absent dermal elastic fibers |
| HP:0034838 | Cleavage at junction of stratum corneum and stratum granulosum |
| HP:0034839 | Lymphoid hyperplasia |
| HP:0034840 | Absence of epidermal lamellar bodies |
| HP:0034841 | Gastrointestinal granulomatosis |
| HP:0034842 | Enlarged sperm head vacuole |
| HP:0034843 | Ureteral hamartoma |
| HP:0034844 | Fetal methimazole exposure |
| HP:0034845 | Fetal procarbazine exposure |
| HP:0034846 | Fetal fluorouracil exposure |
| HP:0034847 | Fetal cytarabine exposure |
| HP:0034848 | Fetal tetracycline exposure |
| HP:0034849 | Fetal quinine exposure |
| HP:0034850 | Fetal cyclophosphamide exposure |
| HP:0034851 | Fetal metronidazole exposure |
| HP:0034852 | Fetal phenobarbital exposure |
| HP:0034853 | Fetal phenytoin exposure |
| HP:0034854 | Periumbilical |
| HP:0034855 | Maternal obesity during pregnancy |
| HP:0034856 | Maternal amniocentesis |
| HP:0034857 | Typified by highly variable age of onset |
| HP:0034858 | Abnormal leukocyte enzyme concentration or activity |
| HP:0034859 | Reduced leukocyte beta-glucuronidase activity |
| HP:0034860 | Reduced leukocyte alpha-L-fucosidase activity |
| HP:0034861 | Reduced leukocyte arylsulfatase B activity |
| HP:0034862 | Reduced leukocyte steroid sulfatase activity |
| HP:0034863 | Reduced leukocyte arylsulfatase A activity |
| HP:0034864 | Decreased alpha-galactosidase A activity |
| HP:0034865 | Positive fecal parasite test |
| HP:0034866 | Positive stool infectious agent test |
| HP:0034867 | Positive stool giardia antigen |
| HP:0034868 | Entamoeba histolytica antibody positive in stool |
| HP:0034869 | Reduced erythrocyte free porphyrin concentration |
| HP:0034870 | Reduced circulating urocanic acid concentration |
| HP:0034871 | Decreased urinary epinephrine level |
| HP:0034872 | Decreased CSF epinephrine concentration |
| HP:0034873 | Decreased circulating epinephrine concentration |
| HP:0034874 | Decreased circulating norepinephrine concentration |
| HP:0034875 | Decreased urinary norepinephrine level |
| HP:0034876 | Decreased urinary metaepinephrine level |
| HP:0034877 | Decreased CSF metanephrine concentration |
| HP:0034878 | Decreased circulating metanephrine concentration |
| HP:0034879 | Ovarian mass |
| HP:0034880 | Adrenal mass |
| HP:0034881 | Uterine mass |
| HP:0034882 | Prostatic calculus |
| HP:0034883 | Decreased portal vein velocity |
| HP:0034884 | Uterine cervix mass |
| HP:0034885 | Abnormal urinary uromodulin level |
| HP:0034886 | Decreased urinary uromodulin level |
| HP:0034887 | Increased urine phenylacetylglutamine level |
| HP:0034888 | Decreased urine guanidinoacetic acid level |
| HP:0034889 | Positive urine infectious agent nucleid acid test |
| HP:0034890 | Positive CMV urine nucleic acid test |
| HP:0034891 | Positive Neisseria gonorrhoeae urine nucleic acid test |
| HP:0034892 | Positive enterovirus urine nucleic acid test |
| HP:0034893 | Elevated brain glycine level by MRS |
| HP:0034894 | Elevated brain polyol compounds by MRS |
| HP:0034895 | Elevated brain gamma-aminobutyric acid by MRS |
| HP:0034896 | History of recent anticoagulant ingestion |
| HP:0034897 | Decreased circulating antidiuretic hormone concentration |
| HP:0034898 | Elevated circulating growth hormone-releasing hormone concentration |
| HP:0034899 | Abnormal amniotic fluid protein concentration |
| HP:0034900 | Decreased amniotic fluid alpha-fetoprotein concentration |
| HP:0034901 | Increased circulating vitamin E concentration |
| HP:0034902 | Abnormal circulating calcitonin concentration |
| HP:0034903 | Decreased circulating calcitonin concentration |
| HP:0034904 | Decreased circulating thyrotropin releasing hormone concentration |
| HP:0034905 | Elevated circulating uroporphyrin concentration |
| HP:0034906 | Increased urine pentacarboxylporphyrin level |
| HP:0034907 | Increased urine hexacarboxylporphyrin level |
| HP:... |
Contributors
cmungall and matentzn
Assets 22
2023-06-17 Release
New with this release
- 44 new terms, many of which are behavioural phenotypes. This release, soon after the previous one, was performed to accommodate for a user meetup on the subject.
New terms:
| HPO ID | Label |
|---|---|
| HP:0034782 | Obstipation |
| HP:0034783 | Posttussive emesis |
| HP:0034784 | Vasculitis by anatomical site |
| HP:0034785 | Vasculitis by histology |
| HP:0034786 | Leukocytoclastic vasculitis |
| HP:0034787 | Accumulation of lipid droplets in small-bowel enterocytes |
| HP:0034788 | Pericardial friction rub |
| HP:0034789 | Muscular vasculitis |
| HP:0034790 | Abnormal muscle succinate dehydrogenase staining |
| HP:0034791 | Increased muscle succinate dehydrogenase staining |
| HP:0034792 | Decreased muscle succinate dehydrogenase staining |
| HP:0034793 | Small intestinal hamartoma |
| HP:5200111 | Avoids emotional intimacy |
| HP:5200110 | Preferes being alone |
| HP:5200108 | Nonfunctional or atypical use of objects in play |
| HP:5200105 | Reduced imaginative play skills |
| HP:5200104 | Abnormal play |
| HP:5200103 | Reduced social responsiveness |
| HP:5200102 | Reduced social smiling |
| HP:5200101 | Limited Repertoire of gestures |
| HP:5200100 | Facial expressions not directed to others |
| HP:5200127 | Aggression toward non caregivers |
| HP:5200126 | Aggression toward cargivers |
| HP:5200125 | Aggression toward others |
| HP:5200124 | Indifference to social norms |
| HP:5200123 | Abnormal response to social norms |
| HP:5200122 | Difficulty communicating ones emotions |
| HP:5200121 | Treats people like objects |
| HP:5200120 | Abnormality in emotional social interactions |
| HP:5200119 | Difficulty understanding humor |
| HP:5200118 | Difficulty recognizing another's emotions |
| HP:5200117 | Poor recognition of injustice |
| HP:5200116 | Difficulty understanding nonliteral meaning of conversation |
| HP:5200113 | Offers information |
| HP:5200137 | Reduced attempt to get or direct attention of peers |
| HP:5200136 | Reduced social reciprocity with peers |
| HP:5200135 | Delay in the acquisition of play skills |
| HP:5200134 | Jumping |
| HP:5200133 | Intense attachment to unusual objects |
| HP:5200132 | Atypical sensory examination of objects |
| HP:5200131 | Reduced use of language for social purposes |
| HP:5200130 | Insistence on sameness |
| HP:5200129 | Abnormal rituals |
| HP:5200128 | Deficit applying language skills across context |
Other changes
- Fix grouped xrefs in HP:0010780 by @cthoyt in #9812
- Replace behavior terms by @LCCarmody in #9811
- Behaviours june 2023, 2nd attempt by @matentzn in #9816
- June 17th 2023 release by @matentzn in #9849
- Check for making sure all HP terms have parents and labels by @matentzn in #9846
Full Changelog: v2023-06-06...v2023-06-17
Contributors
cthoyt, matentzn, and LCCarmody
Assets 22
2023-06-06 Release
New features
hp.jsonnow contains only HPO terms, not imported terms- Added the Chinese language profile to HPO International Edition, provided by https://www.chinahpo.net/chpo/About.html
- Added partial translations for Nyangumarta, Dusun, Tiwi to HPO International Edition
New terms
| HPO ID | Label |
|---|---|
| HP:0034693 | Reduced hepatic methionine adenosyltransferase activity |
| HP:0034694 | Substantia nigra dopaminergic neuron loss |
| HP:0034696 | Intramuscular lipoma |
| HP:0034697 | Cutaneous telangiectasia |
| HP:0034698 | Abnormal aromatase activity |
| HP:0034699 | Elevated aromatase activity |
| HP:0034700 | Reduced aromatase activity |
| HP:0034701 | Corneal amyloidosis |
| HP:0034702 | Abnormal keratinocyte morphology |
| HP:0034703 | Keratinocyte vacuolization |
| HP:0034704 | Parotid gland adenocarcinoma |
| HP:0034705 | Pulmonary vasculitis |
| HP:0034706 | Reduced hepatic D-glycerate kinase activity |
| HP:0034707 | Lymph-node hemophagocytosis |
| HP:0034708 | Superior pubic ramus hypoplasia |
| HP:0034709 | Uterine adenofibroma |
| HP:0034710 | Pulmonary hamartoma |
| HP:0034711 | Peripheral axonal distension |
| HP:0034712 | Decreased alpha-mannosidase activity |
| HP:0034713 | Abnormal hepatocyte morphology |
| HP:0034714 | Hepatic melanin-like lysosomal pigmentation |
| HP:0034715 | Reduced uroporphyrinogen decarboxylase activity |
| HP:0034716 | Reduced heme oxygenase activity |
| HP:0034717 | Cerebral cortex swollen achromatic neurons |
| HP:0034718 | Vacuolated hepatocytes |
| HP:0034719 | Lack of oocyte pronucleus formation |
| HP:0034720 | Self-healing squamous epithelioma |
| HP:0034721 | Elevated circulating pristanic acid concentration |
| HP:0034722 | Sarcoplasmic bodies |
| HP:0034723 | Elevated CSF hydroxyproline concentration |
| HP:0034724 | Reduced CSF cystine concentration |
| HP:0034725 | Abnormal beta-mannosidase activity |
| HP:0034726 | Elevated beta-mannosidase activity |
| HP:0034727 | Reduced alpha-L-fucosidase activity |
| HP:0034728 | Abnormal alpha-L-fucosidase activity |
| HP:0034729 | Elevated alpha-L-fucosidase activity |
| HP:0034730 | Elevated circulating S-adenosyl-L-homocysteine concentration |
| HP:0034731 | Elevated circulating S-adenosyl-L-methionine concentration |
| HP:0034732 | Exercise-triggered malignant hyperthermia |
| HP:0034733 | Anesthesic-triggered malignant hyperthermia |
| HP:0034734 | Elevated CSF argininosuccinic acid concentration |
| HP:0034735 | Elevated CSF aspartylglucosamine concentration |
| HP:0034736 | Elevated circulating alpha-oxoadipic acid concentration |
| HP:0034737 | Abnormal erythrocyte metabolite concentration |
| HP:0034738 | Reduced erythrocyte glutathione concentration |
| HP:0034739 | Elevated CSF sarcosine concentration |
| HP:0034740 | Reduced CSF methionine concentration |
| HP:0034741 | Elevated circulating homoarginine concentration |
| HP:0034742 | Elevated urinary formiminoglutamic acid level |
| HP:0034743 | Elevated CSF proline concentration |
| HP:0034744 | Elevated urinary S-sulfocysteine level |
| HP:0034745 | Elevated circulating S-sulfocysteine concentration |
| HP:0034746 | Sertoli cell hyperplasia |
| HP:0034747 | CSF infectious agent |
| HP:0034748 | CSF mycobacteria |
| HP:0034749 | Fungal bloodstream infection |
| HP:0034750 | Supraclavicular lymphadenopathy |
| HP:0034751 | Inguinal lymphadenopathy |
| HP:0034752 | Axillary lymphadenopathy |
| HP:0034753 | Positive Murphy sign |
| HP:0034754 | Bilious emesis |
| HP:0034755 | Ameliorated by NSAID |
| HP:0034756 | Maternal exposure history |
| HP:0034757 | Maternal barbiturate exposure |
| HP:0034758 | Maternal narcotic exposure |
| HP:0034759 | Ameliorated by ethosuximide |
| HP:0034760 | Reduced epidermal extracellular matrix protein 1 protein expression |
| HP:0034761 | Neurofibroma by anatomical location |
| HP:0034762 | Tongue neurofibroma |
| HP:0034763 | Cardiac neurofibroma |
| HP:0034764 | Gastric neurofibroma |
| HP:0034765 | Renal neurofibroma |
| HP:0034766 | Muscle fiber polyglucosan inclusion bodies |
| HP:0034767 | Abnormal rete ridge morphology |
| HP:0034768 | Rete ridge elongation |
| HP:0034769 | Pulmonary Langerhans cell histiocytosis |
| HP:0034770 | Lumbar hypolordosis |
| HP:0034771 | Battle sign |
| HP:0034772 | Decreased skull base length |
| HP:0034773 | Oscillopsia |
| HP:0034774 | Decreased blink rate |
| HP:0034775 | Abnormal blink rate |
| HP:0034776 | Elevated blink rate |
| HP:0034777 | Purulent sputum |
| HP:0034778 | Maternal hyperthyroidism |
| HP:0034779 | Perineal |
| HP:0034780 | Gadolinium exposure |
| HP:0034781 | Purulent parotid gland drainage |
| HP:4000184 | Reduced erythrocyte adenosine triphosphate concentration |
| HP:4000186 | Elevated erythrocyte adenosine triphosphate concentration |
| HP:4000183 | Abnormal erythrocyte adenosine triphosphate concentration |
| HP:5201014 | Asymmetric bilateral cleft lip |
| HP:5201013 | Microform bilateral cleft lip |
| HP:5201012 | Incomplete bilateral cleft lip |
| HP:5201011 | Complete bilateral cleft lip |
| HP:5201010 | Microform cleft of the upper lip |
| HP:5201009 | Complete cleft of the upper lip |
Pull requests
- Make sure hp.json is the simple product without external terms by @matentzn in #9715
- Update Scott B contributor ORCID by @matentzn in #9718
- Update hp.Makefile by @iimpulse in #9735
- Harmonise ORCIDs contribution ctd. by @matentzn in #9747
- Add Chinese translation (CHPO release on 20230511) by @kaichop in #9772
- Add all-translations table to HPO by @matentzn in #9739
- new terms for bilateral cleft lips by @sabrinatoro in #9710
- Add Nyangumarta, Dusun, Tiwi to HPO international by @matentzn in #9784
- HPO release 6 June 2023 by @matentzn in #9789
New Contributors
- @kaichop made their...
Contributors
kaichop, matentzn, and 2 other contributors
Assets 22
2023-04-05 Release
New Features
- you can now find an international version of HPO at http://purl.obolibrary.org/obo/hp/hp-international.owl. This will contain translations of many HPO phenotypes into french, czech, turkish and dutch. More languages are being added in future releases.
- The individual language profiles can be browsed at https://github.com/obophenotype/human-phenotype-ontology/tree/master/src/ontology/translations, and accessed using the persistent IRI prefix
http://purl.obolibrary.org/obo/hp/translations/, for example: http://purl.obolibrary.org/obo/hp/translations/hp-fr.babelon.tsv to obtain the latest french language profile as a spreadsheet. We do not currently provided official PURLs for the versioned language profiles, but they can be accessed using regular GitHub versioning like this: https://github.com/obophenotype/human-phenotype-ontology/blob/v2023-04-05/src/ontology/translations/hp-fr.babelon.tsv. - The French translation of HPO is carried out by INSERM, US14- Orphanet, with funding from the French Ministry of Health, Direction Générale de la Santé, in the framework of the French National Plan for Rare Diseases.
New Terms
| HPO ID | Label |
|---|---|
| HP:0034521 | Periorificial hyperkeratosis |
| HP:0034522 | Eosinophilic lymph node infiltration |
| HP:0034523 | Blood parasite |
| HP:0034524 | Bloodstream trypomastigotes |
| HP:0034525 | Adamantinoma |
| HP:0034526 | Abnormal enzyme activity in muscle tissue |
| HP:0034527 | Reduced muscle phosphoglycerate kinase activity |
| HP:0034528 | Reduced fibroblast type III procollagen synthesis |
| HP:0034529 | Reduced muscle myoadenylate deaminase activity |
| HP:0034530 | Bent long bone |
| HP:0034531 | Tracheal rupture |
| HP:0034532 | Increased myocardial glycogen content |
| HP:0034533 | Triggered by monoamine oxidase inhibitor |
| HP:0034534 | Triggered by serotonin reuptake inhibitor |
| HP:0034535 | Ameliorated by acetazolamide |
| HP:0034536 | Ameliorated by exposure to medication |
| HP:0034537 | Ameliorated by vitamin B12 |
| HP:0034538 | Ameliorated by thiamine |
| HP:0034539 | Ameliorated by dantrolene |
| HP:0034540 | Ameliorated by biotin |
| HP:0034541 | Reduced bone-marrow megakaryocyte size |
| HP:0034542 | Hairshafts with longitudinal grooves |
| HP:0034543 | Mycobacterium bacteremia |
| HP:0034544 | Decreased delta-aminolevulinate dehydratase activity |
| HP:0034545 | Elevated circulating pancreatic secretory trypsin inhibitor activity |
| HP:0034546 | Presence of uterus in 46,XY individual |
| HP:0034547 | Intraluminal meconium calcification |
| HP:0034548 | Portal vein hypoplasia |
| HP:0034549 | Adrenal leiomyoma |
| HP:0034550 | Small intestinal lymphoplasmacytic infiltrate |
| HP:0034551 | Triggered by neuroleptic medication |
| HP:0034552 | Abnormal peroxisomal morphology |
| HP:0034553 | Absence of peroxisomes |
| HP:0034554 | Paucity of peroxisomes |
| HP:0034555 | Reduced sulfide:quinone oxidoreductase activity |
| HP:0034556 | Deficit at segmental level |
| HP:0034557 | Rhabdoid tumor |
| HP:0034558 | Rhabdoid tumor of the ovary |
| HP:0034559 | Cardiac rhabdoid tumor |
| HP:0034560 | Malignant rhabdoid tumor of the bladder |
| HP:0034561 | Malignant rhabdoid tumor of liver |
| HP:0034562 | Malignant rhabdoid tumor of muscle |
| HP:0034563 | Neck teratoma |
| HP:0034564 | Kidney teratoma |
| HP:0034565 | Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
| HP:0034566 | Aplasia of posterior communicating artery |
| HP:0034567 | Optic pit |
| HP:0034568 | Ameliorated by naloxone |
| HP:0034569 | Ameliorated by pyridoxal phosphate |
| HP:0034570 | Thickened intrahepatic portal venules |
| HP:0034571 | Ovarian fibrosis |
| HP:0034572 | Pigment incontinence |
| HP:0034573 | Abnormal epidermal protein expression |
| HP:0034574 | Reduced epidermal keratin 10 protein expression |
| HP:0034575 | Reduced epidermal collagen IV protein expression |
| HP:0034576 | Reduced epidermal bullous pemphigoid antigen 1 protein expression |
| HP:0034577 | Reduced epidermal collagen VII protein expression |
| HP:0034578 | Reduced epidermal collagen XVII protein expression |
| HP:0034579 | Reduced epidermal integrin alpha6beta4 protein expression |
| HP:0034580 | Reduced epidermal plectin protein expression |
| HP:0034581 | Bloodstream Trypanosoma cruzi |
| HP:0034582 | Abnormal lymph node cell composition |
| HP:0034583 | Lipid-laden lymph node macrophages |
| HP:0034584 | Abnormal pancreatic acinus morphology |
| HP:0034585 | Cochlear nerve hypoplasia |
| HP:0034586 | Glutathionuria |
| HP:0034587 | Nevus psiloliparus |
| HP:0034588 | Crypt hyperplasia |
| HP:0034589 | Increased circulating dehydroepiandrosterone-sulfate concentration |
| HP:0034590 | Abnormal circulating thyroxine-binding globulin concentration |
| HP:0034591 | Decreased circulating thyroxine-binding globulin concentration |
| HP:0034592 | Elevated circulating beta-aminoisobutyric acid concentration |
| HP:0034593 | Elevated circulating dihydrouracil concentration |
| HP:0034594 | Elevated circulating dihydrothymine concentration |
| HP:0034595 | Elevated circulating N-carbamyl-beta-alanine concentration |
| HP:0034596 | Elevated ciculating 5-hydroxymethyluracil concentration |
| HP:0034597 | Decreased CSF creatinine concentration |
| HP:0034598 | Elevated urinary creatine level |
| HP:0034599 | Decreased circulating biotin concentration |
| HP:0034600 | Elevated circulating thrombopoietin concentration |
| HP:0034601 | Decreased circulating C1q concentration |
| HP:0034602 | Decreased circulating apolipoprotein A-II concentration |
| HP:0034603 | Elevated circulating CA19-9 concentration |
| HP:0034604 | Elevated circulating DOPA concentration |
| HP:0034605 | Elevated CSF DOPA concentration |
| HP:0034606 | Elevated circulating porphyrin concentration |
| HP:0034607 | Decreased circulating 17-hydroxyprogesterone concentration |
| HP:0034608 | Decreased circulating transcobalamin II concentration |
| HP:0034609 | Polychromasia |
| HP:0034610 | Decreased circulating myo-inositol concentration |
| HP:0034611 | Elevated circulating arabitol concentration |
| HP:0034612 | Elevated urine arabitol level |
| HP:0034613 | Elevated urine erythritol level |
| HP:0034614 | Elevated circulating erythritol concentration |
| HP:0034615 | Reduced circulating matrix metalloproteinase 2 concentration |
| HP:0034616 | Abnormal circulating coenzyme concentration |
| HP:0034617 | Elevated circulating S-adenosyl methionine concentration |
| HP:0034618 | Abnormal ... |
Contributors
cmungall, cthoyt, and 4 other contributors
Assets 21
2023-01-27 Release
What's Changed
- Make sure the hp.json version is copied correctly into HPOA by @matentzn in #9566
- Return of the diff by @matentzn in #9600
- Prepare HPO release by @matentzn in #9602
New terms
| term id | term label |
|---|---|
| HP:0034517 | Pretibial hyperpigmentation |
| HP:0034518 | Gingival fragility |
| HP:0034519 | Muscle fiber fuchsinophilic inclusion bodies |
| HP:0034520 | Esophageal myenteric plexus degeneration |
| HP:4000125 | Recent honey ingestion |
| HP:4000124 | High dietary oxalate intake |
| HP:4000127 | Aggravated by sodium channel blocking agents |
| HP:4000126 | Raw egg-white ingestion |
| HP:4000121 | Triggered by poison ivy, poson oak, or sumac |
| HP:4000120 | Triggered by nickel |
| HP:4000123 | Nutrition history |
| HP:4000122 | History of exclusive breast feeding |
| HP:4000117 | Valproate exposure |
| HP:4000116 | Carbamazepine exposure |
| HP:4000119 | Calcium channel blocker exposure |
| HP:4000118 | Hydralazine exposure |
| HP:4000113 | Aminoglycoside exposure |
| HP:4000112 | Medication history |
| HP:4000115 | Potassium-sparing diuretic exposure |
| HP:4000114 | Statin exposure |
| HP:4000109 | Triggered by electromagnetic field |
| HP:4000108 | Bone marrow erythroid vacuolization |
| HP:4000111 | Asbestos exposure |
| HP:4000110 | Exposure history |
| HP:4000105 | Abnormal four chamber view of the fetal heart |
| HP:4000104 | Curved dental root |
| HP:4000107 | Positive lupus band test |
| HP:4000106 | Spleen hamartoma |
| HP:4000101 | Triggered by exposure to medication |
| HP:4000100 | Positive lactose hydrogen breath test |
| HP:4000103 | Ameliorated by oral zinc supplementation |
| HP:4000102 | Triggered by allopurinol |
| HP:4000093 | Ectopic tooth eruption |
| HP:4000095 | Elevated circulating thymine concentration |
| HP:4000094 | Corpus cavernosum hypoplasia |
| HP:4000160 | Typified by low penetrance |
| HP:4000159 | Typified by moderate penetrance |
| HP:4000158 | Typified by high penetrance |
| HP:4000153 | Cervical squamous cell papilloma |
| HP:4000152 | Alternating laterality |
| HP:4000154 | Liver leiomyoma |
| HP:4000149 | Lymph node necrosis |
| HP:4000148 | Portal artery hyperplasia |
| HP:4000151 | History of recent cotralateral injury |
| HP:4000150 | Multinucleated neuron |
| HP:4000145 | History of recent viral illness |
| HP:4000144 | Recent past medical history |
| HP:4000147 | Abnormal portal artery morphology |
| HP:4000146 | History of recent dental procedure |
| HP:4000141 | Left ventricular dilatation |
| HP:4000140 | Fetal bowel dilatation |
| HP:4000143 | Abnormal fetal heart outflow tract |
| HP:4000142 | Fetal trigonocephaly |
| HP:4000137 | Isoniazid exposure |
| HP:4000136 | 6-mercaptopurine exposure |
| HP:4000139 | Fetal abdominal cyst |
| HP:4000138 | Absent cavum septum pellucidum |
| HP:4000133 | Triggered by angiotensin-converting enzyme inhibitor |
| HP:4000132 | Aggravated by phenytoin |
| HP:4000135 | 5-fluorouracil exposure |
| HP:4000134 | Prostaglandin E1 exposure |
| HP:4000129 | Recent blood transfusion |
| HP:4000128 | Nitric oxide addiction |
| HP:4000131 | Ameliorated by vitamin D |
| HP:4000130 | Ameliorated by colchicine |
Full Changelog: v2022-12-15...v2022-01-27
Contributors
matentzn
Assets 20
December 2022 release
What's Changed
- New Terms added
- Updating release instructions by @matentzn in #7719
- removed logical def for midline brain calcifications by @LCCarmody in #7732
- revise label HP:0030001 Lagophthalmos by @nicolevasilevsky in #7742
- Release HPO 15 Dec. 2022 by @matentzn in #9561
Full Changelog: v2022-10-05...v2022-12-15
Contributors
nicolevasilevsky, matentzn, and LCCarmody
Assets 19
2022-10-05 Release
TBD.
What's Changed
- Clean up prefix typos by @cthoyt in #7571
- Calcified anatomical entity by calcification pattern by @LCCarmody in #7599
- remove panic attack as subclassof PNES by @reality in #7632
- obsolete/merge Anti-type I liver-kidney microsomal antibody positivity by @nicolevasilevsky in #7644
- Add a QC check for ensuring obsolete terms are never recommended as replacements by @matentzn in #7657
- revise syn for 'Large earlobe' by @nicolevasilevsky in #7712
- DO NOT MERGE: Integrating HPOA into HPO release pipeline by @matentzn in #7672
- Update hp.Makefile by @matentzn in #7720
New Contributors
Full Changelog: v2022-06-11...v2022-10-05
Contributors
reality, cthoyt, and 3 other contributors