Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	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	ORPHA:53697	Gnathodiaphyseal dysplasia		304
HP:0002754	HP:0002754	Osteomyelitis	0	ANO5 CL E G H	203859	27337	OMIM:166260	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