obophenotype/human-phenotype-ontology: 2026-09-01 Release

Zenodo (CERN European Organization for Nuclear Research)

Abstract

Content changes HPO terms added: 69 | Term | ----| | Limited metacarpophalangeal flexion of 2nd finger (HP:6001509) | | Poor oral mucosal wound healing (HP:6001524) | | Overfaced vertebral pedicle (HP:6001530) | | Anti-complement component antibody positivity (HP:6001536) | | Limited metacarpophalangeal flexion of 3rd finger (HP:6001510) | | Lateral deviation of the uvula (HP:6001508) | | Interphalangeal crease effacement of the thumb (HP:6001506) | | Anti-ribosomal P protein antibody positivity (HP:6001538) | | Head and neck squamous cell carcinoma (HP:0020357) | | Dysplastic Liver Nodule (HP:6001545) | | Transverse distal phalangeal crease (HP:6001515) | | Trapezius asymmetry (HP:6001490) | | Sacral hemivertebra (HP:6001523) | | Positive stool Cyclospora cayetanensis oocyst test (HP:0020358) | | Wide space between 2nd and 3rd toes (HP:6001522) | | Cranial exostosis (HP:6001493) | | Perinasal hyperpigmentation (HP:6001519) | | Impaired first-phase insulin secretion (HP:6001516) | | Decreased circulating pepsinogen I concentration (HP:6001531) | | Retching (HP:6001526) | | Antichromatin antibody positivity (HP:0020356) | | Limited metacarpophalangeal flexion of 5th finger (HP:6001512) | | Enlarged median nerve (HP:6001498) | | Small intestinal porcelain-white serosal plaque (HP:6001544) | | Distal interphalangeal crease effacement of the 5th finger (HP:6001495) | | Limited thumb abduction (HP:6001534) | | Eyebrow asymmetry (HP:6001499) | | Supernumerary thumb flexion crease (HP:6001514) | | Foregut duplication cyst (HP:6001501) | | Labor dystocia (HP:6001500) | | Self-harm ideation (HP:6001546) | | Oral mucosal fragility (HP:6001535) | | Hyperpigmented palmar creases (HP:6001502) | | Toe hyperpigmentation (HP:6001528) | | Hypoplastic clivus (HP:6001503) | | Limited metacarpophalangeal flexion of 4th finger (HP:6001511) | | Duodenal web (HP:6001496) | | Abnormal body image (HP:6001533) | | Tongue hyperpigmentation (HP:6001529) | | Thenar muscle aplasia (HP:6001527) | | Orbital hypoplasia (HP:6001547) | | Abnormal vulvar morphology (HP:6001488) | | Prominent plantar fat pad of forefoot (HP:6001518) | | Anti-nucleosome antibody positivity (HP:0020359) | | Periungual hyperpigmentation (HP:6001521) | | Premature patella ossification (HP:6001540) | | Anti-factor B antibody positivity (HP:6001537) | | Impaired speech-in-noise perception (HP:6001525) | | Irregular anterior hairline (HP:6001507) | | Abnormal dental physiology (HP:0020354) | | Short manubrium of malleus (HP:6001513) | | Dental hypermobility (HP:0020355) | | Increased mammary adipose tissue (HP:6001504) | | Second-wind phenomenon (HP:6001543) | | Periumbilical hyperpigmentation (HP:6001520) | | Axillary hyperpigmentation (HP:6001491) | | Aberrant tympanic bony island (HP:6001492) | | Elevated urinary biotin level (HP:6001542) | | Impaired gastric accommodation (HP:6001517) | | Any structural anomaly of the neck region (HP:6001489) | | Erysipelas-like erythema (HP:6001541) | | Anti-DFS70 antibody positivity (HP:6001539) | | Decreased circulating insulin-like growth factor binding protein 1 concentration (HP:0020360) | | Increased palmar soft tissue (HP:6001505) | | Abnormal lingual nerve physiology (HP:6001487) | | Cubital dimple (HP:6001494) | | Displaced radial artery (HP:6001532) | | Eccentric nipple (HP:6001497) | | Abnormal gag reflex (HP:6001486) | HPO terms renamed: 40 | ID | Old Label | New Label | ----|----|----| | HP:0007607 | Hypohidrotic ectodermal dysplasia | obsolete Hypohidrotic ectodermal dysplasia | | HP:0031211 | Elevated cholesterol ester level | Elevated circulating cholesteryl ester concentration | | HP:0012556 | Hyperbeta-alaninemia | Hyperbetaalaninemia | | HP:0034653 | Monocarboxylic aciduria | obsolete Monocarboxylic aciduria | | HP:0033445 | Reduced circulating acylcarnitine concentration | Decreased circulating fatty acylcarnitine concentration | | HP:0006480 | Premature loss of teeth | Spontaneous tooth loss | | HP:0003215 | Dicarboxylic aciduria | Elevated urinary dicarboxylic acid level | | HP:0410053 | Elevated circulating gamma-aminobutyric acid concentration | Elevated circulating GABA concentration | | HP:0007476 | Anhidrotic ectodermal dysplasia | obsolete Anhidrotic ectodermal dysplasia | | HP:0003572 | Low plasma citrulline | Decreased circulating citrulline concentration | | HP:0031795 | Abnormal circulating glycerol level | Abnormal circulating glycerol concentration | | HP:0040184 | Oral bleeding | obsolete Oral bleeding | | HP:0008344 | Elevated circulating branched chain amino acid concentration | Elevated circulating branched-chain amino acid concentration | | HP:0410065 | Increased level of hippuric acid in blood | Elevated circulating hippuric acid concentration | | HP:0011078 | Abnormality of canine | Abnormal canine tooth morphology | | HP:0008285 | Transient hypophosphatemia | obsolete Transient hypophosphatemia | | HP:0005681 | Juvenile rheumatoid arthritis | Juvenile idiopathic arthritis | | HP:0010558 | Abnormality of the clivus | Abnormal clivus morphology | | HP:0045045 | Elevated circulating acylcarnitine concentration | Elevated circulating fatty acylcarnitine concentration | | HP:0010490 | Abnormality of the palmar creases | Abnormal palmar crease morphology | | HP:0007760 | Crystalline corneal dystrophy | obsolete Crystalline corneal dystrophy | | HP:0000168 | Abnormality of the gingiva | Abnormal gingiva morphology | | HP:0012071 | Abnormal circulating acylcarnitine concentration | Abnormal circulating fatty acylcarnitine concentration | | HP:0000676 | Abnormality of the incisor | obsolete Abnormality of the incisor | | HP:0011966 | Elevated plasma citrulline | Elevated circulating citrulline concentration | | HP:0010892 | Abnormal circulating branched chain amino acid concentration | Abnormal circulating branched-chain amino acid concentration | | HP:0410061 | Increased circulating galactitol concentration | Elevated circulating galactitol concentration | | HP:0012367 | Extra fontanelles | Supernumerary fontanelle | | HP:6000955 | Ocular cystine crystal deposition | Corneal cystine crystals | | HP:0011077 | Abnormality of molar | obsolete Abnormality of molar | | HP:0010734 | Fibrous dysplasia of the bones | Fibrous dysplasia of bone | | HP:0500159 | Increased circulating aspartic acid concentration | Elevated circulating aspartic acid concentration | | HP:0200021 | Down-sloping shoulders | Down-sloping shoulder | | HP:0010865 | Oppositional defiant disorder | Age-inappropriate oppositional behavior | | HP:0030361 | Abnormal circulating eicosanoid concentration | Abnormal circulating icosanoid concentration | | HP:0040291 | Skeletal muscle steatosis | obsolete Skeletal muscle steatosis | | HP:0007529 | Hidrotic ectodermal dysplasia | obsolete Hidrotic ectodermal dysplasia | | HP:0040302 | Elevated circulating glycerol concentration | Hyperglycerolemia | | HP:0011076 | Abnormality of premolar | obsolete Abnormality of premolar | | HP:0032657 | Elevated circulating lyso-globotriaosylsphingosine concentration | Elevated circulating globotriaosyl lysosphingolipid concentration | Mappings removed: 17412 | Subject | Predicate | Object | ----|----|----| | Exotropia (HP:0000577) | oio:hasDbXref | SNOMEDCT_US:399054005 | | Peritoneal mesothelioma (HP:0100003) | oio:hasDbXref | UMLS:C0346109 | ---- TABLE TRUNCATED ---- XREFs are no longer maintained in the ontology. For access to maintained mappings see here HPO slim subset was entirely removed. Synonyms added: 323 | Term | New Synonym | Predicate | ----|----|----| | Hyperbetaalaninemia (HP:0012556) | Elevated beta-alanine level in blood | oio:hasExactSynonym | | Elevated circulating hippuric acid concentration (HP:0410065) | Increased hippuric acid level in blood | oio:hasExactSynonym | | Down-sloping shoulder (HP:0200021) | Depressed shoulder | oio:hasExactSynonym | | Anterior pituitary hypoplasia (HP:0010627) | Hypoplastic adenohypophysis | oio:hasExactSynonym | | Cranial exostosis (HP:6001493) | Cranial exostoses | oio:hasExactSynonym | | Abnormal body image (HP:6001533) | Disturbed body image | oio:hasExactSynonym | | Hyperasparaginemia (HP:0500156) | Increased asparagine level | oio:hasExactSynonym | | Alacrima (HP:0000522) | Absent tear flow on Schirmer I test | oio:hasExactSynonym | | Hyposerinemia (HP:0012279) | Decreased serine level | oio:hasExactSynonym | | Hyperasparaginemia (HP:0500156) | Increased asparagine concentration | oio:hasExactSynonym | | Decreased circulating GABA concentration (HP:0410054) | Decreased gamma-aminobutyric acid level | oio:hasExactSynonym | | Downturned corners of mouth (HP:0002714) | Drooping corners of mouth | oio:hasExactSynonym | | Elevated circulating aspartic acid concentration (HP:0500159) | Increased aspartic acid level in blood | oio:hasExactSynonym | | Hyperserinemia (HP:0500138) | Increased serine level in blood | oio:hasExactSynonym | | Elevated circulating GABA concentration (HP:0410053) | Increased gamma-aminobutyric acid level in blood | oio:hasExactSynonym | | Hyperornithinemia (HP:0012026) | Elevated ornithine level | oio:hasExactSynonym | | Decreased circulating carnitine concentration (HP:0003234) | Decreased carnitine concentration | oio:hasExactSynonym | | Hyperglycerolemia (HP:0040302) | Elevated glycerol level in blood | oio:hasExactSynonym | | Elevated circulating branched-chain amino acid concentration (HP:0008344) | Elevated branched-chain amino acid level in blood | oio:hasExactSynonym | | Elevated circulating hippuric acid concentration (HP:0410065) | Increased hippuric acid concentration | oio:hasExactSynonym | | Elevated circulating cholesteryl ester concentration (HP:0031211) | Elevated cholesteryl ester level in blood | oio:hasExactSynonym | | Hyperglycerolemia (HP:0040302) | Increased glycerol level in blood |

Authors 25

1. Peter Robinson

   Berlin Institute of Health at Charité - Universitätsmedizin Berlin

   Affiliation as printed

   Berlin Institute of Health

2. Nicole Vasilevsky

   Critical Path Institute

   Affiliation as printed

   Critical Path Institute

3. Sebastian Köhler
   Affiliation as printed

   @epicompany

4. Nicolas Matentzoglu
   Affiliation as printed

   semanticly.ai

5. Harshad
6. Adam SL Graefe
7. Chris J Mungall

   Lawrence Berkeley National Laboratory

   Affiliation as printed

   Lawrence Berkeley National Laboratory

8. Jim Balhoff

   Renaissance Computing Institute

   Affiliation as printed

   @RENCI

9. Mark A. Engelstad
   Affiliation as printed

   Entrustable

10. Michael Gargano

    Jackson Laboratory

    Affiliation as printed

    @TheJacksonLaboratory

11. Colin Diesh
12. Sabrina Toro
13. Ben Coleman
14. Sebastian Köhler
15. Charles Tapley Hoyt Aachen

    RWTH Aachen University

    Affiliation as printed

    RWTH Aachen University

16. Jean-Philippe Gourdine

    Lewis & Clark College

    Affiliation as printed

    Lewis & Clark College

17. Ray Stefancsik
18. Xingmin Aaron Zhang
19. Julie McMurry
    Affiliation as printed

    tislab.org

20. Aleix Puig

    European Bioinformatics Institute · European Molecular Biology Laboratory · European Molecular Biology Laboratory

    Affiliation as printed

    EBI-EMBL

21. Becky Jackson
22. Kai Wang

    Children's Hospital of Philadelphia

    Affiliation as printed

    Children's Hospital of Philadelphia

23. Martin Larralde Aachen LUMC (ex EMBL) @zellerlab

    Leiden University Medical Center

    Affiliation as printed

    LUMC (ex EMBL) @zellerlab

24. Nomi Harris

    Lawrence Berkeley National Laboratory

    Affiliation as printed

    Lawrence Berkeley National Laboratory

25. Sergiu Dumitriu