Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:166260 | Gnathodiaphyseal dysplasia | . | | | 304 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:53697 | Gnathodiaphyseal dysplasia | | | | 304 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 71 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 5 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | . | | | 5 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040283 - Occasional | | | 192 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 4 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040283 - Occasional | | | 109 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 9 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 6 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 102 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | | | | 102 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040282 - Frequent | | | 6 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040282 - Frequent | | | 580 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040281 - Very frequent | | | 55 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:615978 | Immunodeficiency 27B | | | | 60 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 7 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 3 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | | | | 46 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040281 - Very frequent | | | 186 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 3 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | | | | 85 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | NGF CL E G H | 4803 | 7808 | OMIM:608654 | Neuropathy, hereditary sensory and autonomic, type V | | | | 20 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040281 - Very frequent | | | 97 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040284 - Very rare | | | 15 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 43 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 2 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 67 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 61 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 57 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 54 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | . | | | 54 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 149 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | . | | | 149 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040283 - Occasional | | | 110 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 2 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 82 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | . | | | 82 | | |
HP:0002754 | HP:0002754 | Osteomyelitis | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0002754 | HP:0007626 | Mandibular osteomyelitis | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:53697 | Gnathodiaphyseal dysplasia | HP:0040282 - Frequent | | | 304 | | |
HP:0002754 | HP:0001886 | Foot osteomyelitis | 1 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040283 - Occasional | | | 56 | | |
HP:0002754 | HP:0001886 | Foot osteomyelitis | 1 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0002754 | HP:0007626 | Mandibular osteomyelitis | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0002754 | HP:0007626 | Mandibular osteomyelitis | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | . | | | 102 | | |
HP:0002754 | HP:0005661 | Salmonella osteomyelitis | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | . | | | 60 | | |
HP:0002754 | HP:0005661 | Salmonella osteomyelitis | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:615978 | Immunodeficiency 27B | . | | | 60 | | |
HP:0002754 | HP:0005661 | Salmonella osteomyelitis | 1 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0002754 | HP:0005010 | Osteomyelitis leading to amputation due to slow healing fractures | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0002754 | HP:0005010 | Osteomyelitis leading to amputation due to slow healing fractures | 1 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0002754 | HP:0001886 | Foot osteomyelitis | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0002754 | HP:0001886 | Foot osteomyelitis | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | . | | | 54 | | |
HP:0002754 | HP:0007626 | Mandibular osteomyelitis | 1 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |