obophenotype/human-phenotype-ontology: 2026-01-08 Release
Zenodo (CERN European Organization for Nuclear Research)
Abstract
Content changes Classes added: 31 | Term | ----| | Decreased mixed venous oxygen saturation (HP:6001451) | | Retinal phlebitis (HP:0020310) | | Decreased circulating insulin-like growth factor 3 concentration (HP:6001445) | | Decreased myocardial glycogen content (HP:6001440) | | Tigroid fundus (HP:6001439) | | Decreased coracohumeral distance (HP:6001455) | | Elevated pCO2 gap (HP:6001453) | | Increased plantar fascia thickness (HP:6001449) | | Abnormal medial epicondyle morphology (HP:6001435) | | Focal hyperpigmented area associated with subretinal scar tissue (HP:0020312) | | History of ocular surgery (HP:6001448) | | Ophthalmic artery hypoperfusion (HP:0020311) | | Airway chondritis (HP:6001446) | | Glenohumeral arthritis (HP:6001458) | | Positive bursa fluid gram stain (HP:6001434) | | Medial humerus epicondyle avulsion fracture (HP:6001436) | | Discrete fundus hypopigmentation (HP:0020313) | | Deltoid muscle tear (HP:6001457) | | Chocolate brown blood (HP:6001452) | | Tenosynovitis (HP:6001438) | | Increased anteroposterior lens thickness (HP:0020308) | | Putaminal eye sign (HP:6001454) | | CSF anti-myelin oligodendrocyte glycoprotein antibody positivity (HP:6001441) | | Abnormal deltoid muscle morphology (HP:6001456) | | Increased mixed venous oxygen saturation (HP:6001450) | | Abnormal circulating insulin-like growth factor 3 concentration (HP:6001444) | | inflammation of the costal cartilage, the cartilage that connects the ribs to the sternum (breastbone). (HP:6001447) | | Spinal cord H sign (HP:6001442) | | Ankle instability (HP:0020309) | | Abnormal testosterone: estradiol ratio (HP:6001443) | | Hand mass (HP:6001437) | Nodes obsoleted with replacement: 16 | Term | Replacement | ----|----| | obsolete Subhyaloid hemorrhage (HP:0025239) | Preretinal hemorrhage (HP:0025240) | | obsolete Chorioretinal degeneration (HP:0200065) | Chorioretinal atrophy (HP:0000533) | | obsolete Multifocal sub-RPE deposits (HP:0031533) | Sub-RPE deposits (HP:0031531) | | obsolete Decreased CD3+ T cell proportion (HP:0045080) | Decreased total T cell count (HP:0005403) | | obsolete Central fundal arteriolar microaneurysms (HP:0008014) | Retinal microaneurysm (HP:0032416) | | obsolete Premacular hemorrhage (HP:0031804) | Preretinal hemorrhage (HP:0025240) | | obsolete Macular microaneurysm/hemorrhage (HP:0030494) | Retinal microaneurysm (HP:0032416) | | obsolete Foveal depigmentation (HP:0500088) | Foveal hypopigmentation (HP:0012643) | | obsolete Multifocal subretinal deposits (HP:0031530) | Subretinal deposits (HP:0031528) | | obsolete Focal sub-RPE deposits (HP:0031532) | Sub-RPE deposits (HP:0031531) | | obsolete Focal subretinal deposits (HP:0031529) | Subretinal deposits (HP:0031528) | | obsolete Depigmented fundus (HP:0007680) | Fundus hypopigmentation (HP:0007894) | | Abnormal distribution of retinal arterioles and venules (HP:0007815) | Abnormal retinal vascular morphology (HP:0008046) | | obsolete Exudative retinopathy (HP:0007898) | Serous retinal detachment (HP:0012231) | | obsolete Retinal vascular proliferation (HP:0007850) | Retinal neovascularization (HP:0030666) | | obsolete Hypoplasia of the retina (HP:0007770) | Retinal dysplasia (HP:0007973) | Classes renamed: 86 | ID | Old Label | New Label | ----|----|----| | HP:0007703 | Abnormality of retinal pigmentation | Abnormal retinal pigmentation | | HP:0007770 | Hypoplasia of the retina | obsolete Hypoplasia of the retina | | HP:0032306 | Increased circulating mannose-binding protein concentration | Elevated circulating mannose-binding protein concentration | | HP:6000693 | Reduced circulating NT-proANP concentration | Decreased circulating NT-proANP concentration | | HP:0025244 | Subretinal pigment epithelium hemorrhage | Sub-retinal pigment epithelium haemorrhage | | HP:0025465 | Abnormal circulating beta globulin level | Abnormal circulating beta globulin concentration | | HP:0001139 | Choroideremia | Chorioretinal scalloped atrophy | | HP:0007894 | Hypopigmentation of the fundus | Fundus hypopigmentation | | HP:0008002 | Abnormality of macular pigmentation | Abnormal macular pigmentation | | HP:0031609 | Geographic atrophy | Macular geographic atrophy | | HP:0031424 | Abnormal circulating beta-C-terminal telopeptide concentration | Abnormal circulating beta-CTX concentration | | HP:6000710 | Dalen Fuchs nodules | Dalen-Fuchs nodules | | HP:0001102 | Angioid streaks of the fundus | Angioid streaks | | HP:6000566 | Elevated circulating lipoprotein X concentration | Elevated circulating lipoprotein-X concentration | | HP:0008014 | Central fundal arteriolar microaneurysms | obsolete Central fundal arteriolar microaneurysms | | HP:0031605 | Abnormality of fundus pigmentation | Abnormal fundus pigmentation | | HP:0031530 | Multifocal subretinal deposits | obsolete Multifocal subretinal deposits | | HP:0031030 | Elevated carcinoma antigen 125 level | Elevated circulating carcinoma antigen 125 concentration | | HP:0031034 | Abnormal insulin like growth factor binding protein acid labile subunit level | Abnormal circulating insulin-like growth factor-binding protein acid-labile subunit concentration | | HP:0030504 | Grouped congenital hypertrophy of retinal pigment epithelium | Clustered congenital hypertrophy of retinal pigment epithelium | | HP:6000749 | Elevated circulating type I procollagen aminoterminal propeptide concentration | Elevated circulating PINP concentration | | HP:0011529 | Multiple bilateral congenital hypertrophy of retinal pigment epithelium | Multiple congenital hypertrophy of retinal pigment epithelium | | HP:0032094 | Increased circulating surfactant protein level | Elevated circulating surfactant protein concentration | | HP:0025239 | Subhyaloid hemorrhage | obsolete Subhyaloid hemorrhage | | HP:0007737 | Bone spicule pigmentation of the retina | Spicular pigmentation of the retina | | HP:6000692 | Abnormal circulating atrial natriuretic peptide pro-hormone concentration | Abnormal circulating proANP concentration | | HP:0031426 | Decreased circulating beta-C-terminal telopeptide concentration | Decreased circulating beta-CTX concentration | | HP:0034371 | Reduced circulating prekallikrein concentration | Decreased circulating prekallikrein concentration | | HP:0033833 | Elevated circulating soluble CD25 concentration | Elevated circulating sCD25 concentration | | HP:0030500 | Yellow/white lesions of the macula | Yellow/white macular lesion | | HP:0030494 | Macular microaneurysm/hemorrhage | obsolete Macular microaneurysm/hemorrhage | | HP:0025355 | Retinal arterial macroaneurysms | Retinal arteriolar macroaneurysms | | HP:0032493 | Increased circulating trypsinogen | Elevated circulating trypsinogen concentration | | HP:0031529 | Focal subretinal deposits | obsolete Focal subretinal deposits | | HP:0045080 | Decreased CD3+ T cell proportion | obsolete Decreased CD3+ T cell proportion | | HP:0008043 | Retinal arteriolar constriction | Focal retinal arteriolar constriction | | HP:0030505 | Nummular pigmentation of the fundus | Nummular pigmentation of the retina | | HP:0007642 | Congenital stationary night blindness | Early-onset non-progressive night blindness | | HP:0006460 | Increased laxity of ankles | Ankle hypermobility | | HP:0001099 | Fundus atrophy | Atrophic fundus lesion | | HP:0031425 | Increased circulating beta-C-terminal telopeptide concentration | Elevated circulating beta-CTX concentration | | HP:6001317 | Posititve talar tilt test | Positive talar tilt test | | HP:0007680 | Depigmented fundus | obsolete Depigmented fundus | | HP:0007797 | Retinal vascular malformation | Developmental retinal vascular malformation | | HP:0031031 | Abnormal retinol-binding protein level | Abnormal circulating retinol-binding protein concentration | | HP:0030952 | Birdshot retinochoroidopathy | Birdshot choroidal lesions | | HP:6000385 | Elevated circulating soluble CD163 concentration | Elevated circulating sCD163 concentration | | HP:0032311 | Increased circulating globulin level | Elevated circulating globulin concentration | | HP:0011512 | Hyperpigmentation of the fundus | Fundus hyperpigmentation | | HP:0005413 | Increased alpha-globulin | Elevated circulating alpha-globulin concentration | | HP:0032232 | Increased circulating creatine kinase MB isoform | Elevated circulating CK-MB concentration | | HP:0005559 | Abnormality of the kinin-kallikrein system | Abnormal kinin-kallikrein system component activity | | HP:0001116 | Macular coloboma | Macular pseudocoloboma | | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | Abnormal circulating insulin-like growth factor 1 concentration | | HP:0007850 | Retinal vascular proliferation | obsolete Retinal vascular proliferation | | HP:0020163 | Cilioretinal artery occlusion | Cilioretinal arteriolar hypoperfusion | | HP:0030506 | Yellow/white lesions of the retina | Yellow/white retinal lesion | | HP:0031032 | Decreased retinol-binding protein level | Decreased circulating retinol-binding protein concentration | | HP:0001961 | Hypoplastic heart | Hypoplastic ventricle | | HP:0007685 | Peripheral retinal avascularization | Avascular peripheral retina | | HP:0031420 | Small yellow foveal lesion with surrounding gray zone | Small yellow/white macular lesion | | HP:0012231 | Exudative retinal detachment | Serous retinal detachment | | HP:0030493 | Abnormality of foveal pigmentation | Abnormal foveal pigmentation | | HP:0007677 | Vitelliform-like macular lesions | Vitelliform macular lesion | | HP:0031439 | Abnormal angiostatin level | Abnormal circulating angiostatin concentration | | HP:0200065 | Chor
Authors 22
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
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Berlin Institute of Health
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Critical Path Institute
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@adahealth
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Affiliation as printed
semanticly.ai
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Lawrence Berkeley National Laboratory
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Lawrence Berkeley National Laboratory
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Renaissance Computing Institute
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@RENCI
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Entrustable
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@TheJacksonLaboratory
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Charles Tapley Hoyt Aachen
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RWTH Aachen University
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Lewis & Clark College
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Affiliation as printed
tislab.org
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Children's Hospital of Philadelphia
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Children's Hospital of Philadelphia
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Leiden University Medical Center
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LUMC (ex EMBL) @zellerlab
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Lawrence Berkeley National Laboratory
Affiliation as printed
Lawrence Berkeley National Laboratory
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