obophenotype/human-phenotype-ontology: 2026-06-23 Release

Zenodo (CERN European Organization for Nuclear Research)

Abstract

Content changes Phenotype classes added: 29 | Term | ----| | Increased CD4+ T cell number (HP:5210416) | | Non-infectious encephalitis (HP:5210422) | | Decreased total CD4+ T cell number (HP:5210415) | | Recurrent Haemophilus influenzae conjunctivitis (HP:5210429) | | Erythematous scalp plaque (HP:6001480) | | Decreased total CD4+ T cell count (HP:5210418) | | Increased total CD4+ T cell count (HP:5210417) | | Foot small muscle atrophy (HP:6001485) | | Loss of acquired spoken language (HP:6001483) | | Decreased total T cell proportion (HP:5210413) | | Increased total T cell proportion (HP:5210414) | | Severe eczema (HP:5210420) | | Postnatal deceleration of headgrowth (HP:6001484) | | Autoimmune encephalitis (HP:5210423) | | Autoimmune cytopenia (HP:5210419) | | Hindfoot deformity (HP:5210430) | | Decreased total CD8+ T cell count (HP:5210426) | | Decreased total CD8+ T cell number (HP:5210425) | | Increased total CD8+ T cell count (HP:5210427) | | Positive hair pull test (HP:6001481) | | Decreased total T cell number (HP:5210411) | | Increased total CD8+ T cell number (HP:5210424) | | Autoimmune hepatitis (HP:5210421) | | HSV pneumonia (HP:5210428) | | Loss of acquired purposeful hand skills (HP:6001482) | | Increased total T cell number (HP:5210412) | | Abnormal effector memory CD4+ T cell proportion (HP:5210409) | | Increased CD4+ TEMRA T cell proportion (HP:5210377) | | Abnormal central memory CD4+ T cell proportion (HP:5210410) | Phenotypes renamed: 62 | ID | Old Label | New Label | ----|----|----| | HP:0020177 | Abnormal proportion of CD8-positive TEMRA T cells | Abnormal CD8+ TEMRA T cell proportion | | HP:0025844 | Decreased HLA DR+ CD8+ T cell proportion | Decreased HLA-DR+ CD8+ T cell proportion | | HP:0500265 | Increased proportion of CD8+ TEMRA T cells | Increased CD8+ TEMRA T cell proportion | | HP:0410392 | Increased CD8+ memory T cell proportion | Increased memory CD8+ T cell proportion | | HP:0011023 | Abnormal circulating prostaglandin circulation | Abnormal circulating prostaglandin concentration | | HP:0031514 | Increased proportion of exhausted T cells | Increased exhausted T cell proportion | | HP:0025624 | Decreased CD4+ effector memory T cell proportion | Decreased effector memory CD4+ T cell proportion | | HP:0032218 | Decreased CD4+ T cell proportion | Decreased total CD4+ T cell proportion | | HP:0012475 | Decreased circulating concentration of specific antibodies | Impaired specific antibody response | | HP:0012024 | Elevated circulating galactose concentration | Hypergalactosemia | | HP:0410391 | Increased CD4+ memory T cell proportion | Increased memory CD4+ T cell proportion | | HP:3000041 | Abnormality of external carotid artery | Abnormal external carotid artery morphology | | HP:0025840 | Abnormal HLA DR+ CD4+ T cell proportion | Abnormal HLA-DR+ CD4+ T cell proportion | | HP:0004369 | Decreased circulating purine concentration | Decreased circulating purines concentration | | HP:5200034 | Decreased proportion of HLA-DR+ T cells | Decreased HLA-DR+ T cell proportion | | HP:0011839 | Abnormal total T cell count | Abnormal total T cell number | | HP:0031401 | Decreased double-negative T cell proportion | Decreased double-negative T cell number | | HP:0025841 | Decreased proportion of HLA DR+ CD4+ T cells | Decreased HLA-DR+ CD4+ T cell proportion | | HP:0032128 | Increased proportion of plasmablasts | Increased plasmablast proportion | | HP:0025843 | Increased HLA DR+ CD8+ T cell proportion | Increased HLA-DR+ CD8+ T cell proportion | | HP:0032129 | Decreased proportion of plasmablasts | Decreased plasmablast proportion | | HP:0410385 | Decreased CD8+ memory T cell proportion | Decreased memory CD8+ T cell proportion | | HP:0031408 | Increased proportion of CD25+ mast cells | Increased CD25+ mast cell proportion | | HP:0030384 | Decreased proportion of marginal zone B cells | Decreased marginal zone B cell proportion | | HP:0410388 | Decreased proportion of central memory CD4-positive T cells | Decreased central memory CD4+ T cell proportion | | HP:0500266 | Decreased proportion of CD8+ TEMRA T cells | Decreased CD8+ TEMRA T cell proportion | | HP:0410305 | Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine | Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine | | HP:0025540 | Abnormal T cell subset distribution | Abnormal T cell subset number | | HP:0410393 | Increased central memory CD4-positive T cell proportion | Increased central memory CD4+ T cell proportion | | HP:0030374 | Decreased proportion of memory B cells | Decreased memory B cell proportion | | HP:0410300 | Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine | Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide | | HP:0025183 | Abnormal CD4+ T cell proportion | Abnormal total CD4+ T cell number | | HP:0025842 | Abnormal HLA DR+ CD8+ T cell proportion | Abnormal HLA-DR+ CD8+ T cell proportion | | HP:0410301 | Partial absence of specific antibody response to unconjugated pneumococcus vaccine | Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide | | HP:0041080 | Abnormal proportion of exhausted T cells | Abnormal exhausted T cell proportion | | HP:0005422 | Absence of CD8-positive T cells | Absence of CD8+ T cells | | HP:0030385 | Increased proportion of marginal zone B cells | Increased marginal zone B cell proportion | | HP:0002851 | Increased double-negative T cell proportion | Increased double-negative T cell number | | HP:0030375 | Increased proportion of memory B cells | Increased memory B cell proportion | | HP:0031393 | Abnormal CD8+ T cell proportion | Abnormal total CD8+ T cell number | | HP:0410303 | Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine | Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine | | HP:0025625 | Increased CD4+ effector memory T cell proportion | Increased effector memory CD4+ T cell proportion | | HP:5200033 | Increased proportion of HLA-DR+ T cells | Increased HLA-DR+ T cell proportion | | HP:0005540 | Red blood cell keratocytosis | obsolete Red blood cell keratocytosis | | HP:5200023 | Abnormal proportion of HLA-DR+ T cells | Abnormal HLA-DR+ T cell proportion | | HP:0002853 | Increased proportion of HLA DR+ CD4+ T cells | Increased HLA-DR+ CD4+ T cell proportion | | HP:0005415 | Decreased CD8+ T cell proportion | Decreased total CD8+ T cell proportion | | HP:6000543 | Positive mycobacterium CSF culture | obsolete Positive mycobacterium CSF culture | | HP:0025836 | Increased CD8+ T cell proportion | Increased total CD8+ T cell proportion | | HP:0034159 | Paget disease of bone | Pagetic bone lesion | | HP:0004352 | Abnormal circulating purine concentration | Abnormal circulating purines concentration | | HP:0002961 | Dysgammaglobulinemia | obsolete Dysgammaglobulinemia | | HP:0032219 | Increased CD4+ T cell proportion | Increased total CD4+ T cell proportion | | HP:0410304 | Complete or near-complete absence of specific antibody response to meningococcus vaccine | Complete or near-complete absence of specific antibody response to protein-conjugated meningococcus vaccine | | HP:0410306 | Partial absence of specific antibody response to meningococcus vaccine | Partial absence of specific antibody response to protein-conjugated meningococcus vaccine | | HP:0004339 | Abnormal circulating sulfur amino acid concentration | Abnormal circulating sulfur-containing amino acid concentration | | HP:5210321 | Persitent influenza virema | Persitent influenza viremia | | HP:5210035 | Partial absence of specific antibody response to Salmonella typhi vaccine | Partial absence of specific antibody response to unconjugated Salmonella typhi vaccine | | HP:0004368 | Increased circulating purine concentration | Elevated circulating purine concentration | | HP:0410299 | Decreased specific antibody response to polysaccharide vaccine | Decreased specific antibody response to unconjugated polysaccharide vaccine | | HP:0033147 | Abnormal circulating short-chain fatty-acid concentration | Abnormal circulating short-chain fatty acid concentration | | HP:5210034 | Complete or near-complete absence of specific antibody response to Salmonella typhi vaccine | Complete or near-complete absence of specific antibody response to unconjugated Salmonella typhi vaccine | Nodes obsoleted with replacement: 3 | Term | Replacement | ----|----| | obsolete Red blood cell keratocytosis (HP:0005540) | Poikilocytosis (HP:0004447) | | obsolete Positive mycobacterium CSF culture (HP:6000543) | Positive CSF mycobacterial culture (HP:6000835) | | obsolete Dysgammaglobulinemia (HP:0002961) | Abnormal circulating immunoglobulin concentration (HP:0010701) | Text definitions changed: 71 | Term | Old Text Definition | New Text Definition | ----|----|----| | Abnormal circulating glutamine concentration (HP:0010903) | Any deviation from the normal concentration of glutamine in the blood circulation. | Any deviation from the normal concentration of glutamine in the blood circulation. | | Hypoleucinemia (HP:0500143) | Decreased amount of leucine in the blood. | The concentration of leucine in the blood circulation is below the lower limit of normal. | | Absent specific antibody response (HP:0005424) | Absence of specific immunoglobulins directed against a specific antigen or microorganism. | Inability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines

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. Aleix Puig

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

    Affiliation as printed

    EBI-EMBL

20. Becky Jackson
21. Julie McMurry
    Affiliation as printed

    tislab.org

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 L. Harris

    Lawrence Berkeley National Laboratory

    Affiliation as printed

    Lawrence Berkeley National Laboratory

25. Sergiu Dumitriu