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:0003040	HP:0003040	Arthropathy	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0003040	HP:0003040	Arthropathy	0	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2	.	164
HP:0003040	HP:0003040	Arthropathy	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0003040	HP:0003040	Arthropathy	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0003040	HP:0003040	Arthropathy	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.	5
HP:0003040	HP:0003040	Arthropathy	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0003040	HP:0003040	Arthropathy	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0003040	HP:0003040	Arthropathy	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003040	HP:0003040	Arthropathy	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003040	HP:0003040	Arthropathy	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0003040	HP:0003040	Arthropathy	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0003040	HP:0003040	Arthropathy	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0003040	HP:0003040	Arthropathy	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.	215
HP:0003040	HP:0003040	Arthropathy	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0003040	HP:0003040	Arthropathy	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0003040	HP:0003040	Arthropathy	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0003040	HP:0003040	Arthropathy	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0003040	HP:0003040	Arthropathy	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0003040	HP:0003040	Arthropathy	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0003040	HP:0003040	Arthropathy	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0003040	HP:0003040	Arthropathy	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent	15
HP:0003040	HP:0003040	Arthropathy	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0003040	HP:0003040	Arthropathy	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent	38
HP:0003040	HP:0003040	Arthropathy	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.	77
HP:0003040	HP:0003040	Arthropathy	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0003040	HP:0003040	Arthropathy	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0003040	HP:0003040	Arthropathy	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0003040	HP:0003040	Arthropathy	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003040	HP:0003040	Arthropathy	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003040	HP:0003040	Arthropathy	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0003040	HP:0003040	Arthropathy	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent	2
HP:0003040	HP:0003040	Arthropathy	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome	.	2
HP:0003040	HP:0003040	Arthropathy	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent	64
HP:0003040	HP:0003040	Arthropathy	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0003040	HP:0003040	Arthropathy	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0003040	HP:0003040	Arthropathy	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0003040	HP:0003040	Arthropathy	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0003040	HP:0003040	Arthropathy	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0003040	HP:0003040	Arthropathy	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0003040	HP:0003040	Arthropathy	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0003040	HP:0003040	Arthropathy	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.	6
HP:0003040	HP:0003040	Arthropathy	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0003040	HP:0003040	Arthropathy	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0003040	HP:0003040	Arthropathy	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0003040	HP:0003040	Arthropathy	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0003040	HP:0003040	Arthropathy	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0003040	HP:0003040	Arthropathy	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0003040	HP:0003040	Arthropathy	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0003040	HP:0003040	Arthropathy	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0003040	HP:0003040	Arthropathy	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0003040	HP:0003040	Arthropathy	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0003040	HP:0002821	Neuropathic arthropathy	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	71
HP:0003040	HP:0002821	Neuropathic arthropathy	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	5
HP:0003040	HP:0005195	Polyarticular arthropathy	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040281 - Very frequent
HP:0003040	HP:0005195	Polyarticular arthropathy	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0003040	HP:0005195	Polyarticular arthropathy	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0003040	HP:0005195	Polyarticular arthropathy	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0003040	HP:0002821	Neuropathic arthropathy	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0003040	HP:0005195	Polyarticular arthropathy	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0003040	HP:0005195	Polyarticular arthropathy	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0003040	HP:0005195	Polyarticular arthropathy	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003040	HP:0005195	Polyarticular arthropathy	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0003040	HP:0005195	Polyarticular arthropathy	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0003040	HP:0005195	Polyarticular arthropathy	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0003040	HP:0005195	Polyarticular arthropathy	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0003040	HP:0005195	Polyarticular arthropathy	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0003040	HP:0002821	Neuropathic arthropathy	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0003040	HP:0002821	Neuropathic arthropathy	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0003040	HP:0005195	Polyarticular arthropathy	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0003040	HP:0005195	Polyarticular arthropathy	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0003040	HP:0005195	Polyarticular arthropathy	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0003040	HP:0005195	Polyarticular arthropathy	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0003040	HP:0002821	Neuropathic arthropathy	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	54
HP:0003040	HP:0002821	Neuropathic arthropathy	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	149
HP:0003040	HP:0005195	Polyarticular arthropathy	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0003040	HP:0005195	Polyarticular arthropathy	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0003040	HP:0005195	Polyarticular arthropathy	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0003040	HP:0005764	Polyarticular arthritis	2	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0003040	HP:0005764	Polyarticular arthritis	2	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0003040	HP:0005764	Polyarticular arthritis	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0003040	HP:0005764	Polyarticular arthritis	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0003040	HP:0005764	Polyarticular arthritis	2	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0003040	HP:0005764	Polyarticular arthritis	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003040	HP:0005764	Polyarticular arthritis	2	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0003040	HP:0005764	Polyarticular arthritis	2	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0003040	HP:0005764	Polyarticular arthritis	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0003040	HP:0005764	Polyarticular arthritis	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0003040	HP:0005764	Polyarticular arthritis	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0003040	HP:0005764	Polyarticular arthritis	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0003040	HP:0005764	Polyarticular arthritis	2	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0003040	HP:0005764	Polyarticular arthritis	2	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0003040	HP:0005764	Polyarticular arthritis	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0003040	HP:0005764	Polyarticular arthritis	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0003040	HP:0005764	Polyarticular arthritis	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131