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:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism		52
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism		22
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011911	HP:0011911	Abnormal metacarpophalangeal joint morphology	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0011911	HP:0004294	Subluxation of metacarpal phalangeal joints	1	CL E G H
HP:0011911	HP:0041173	Fractured metacarpophalangeal joint	1	CL E G H
HP:0011911	HP:0006070	Metacarpophalangeal joint contracture	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0011911	HP:0006099	Metacarpophalangeal joint hyperextensibility	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0011911	HP:0006099	Metacarpophalangeal joint hyperextensibility	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0011911	HP:0006099	Metacarpophalangeal joint hyperextensibility	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0011911	HP:0006070	Metacarpophalangeal joint contracture	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0011911	HP:0006099	Metacarpophalangeal joint hyperextensibility	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0011911	HP:0005880	Metacarpophalangeal synostosis	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent	52
HP:0011911	HP:0006070	Metacarpophalangeal joint contracture	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0011911	HP:0006070	Metacarpophalangeal joint contracture	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0011911	HP:0005880	Metacarpophalangeal synostosis	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent	22
HP:0011911	HP:0005880	Metacarpophalangeal synostosis	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A		22
HP:0011911	HP:0005880	Metacarpophalangeal synostosis	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011911	HP:0005880	Metacarpophalangeal synostosis	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0011911	HP:0006070	Metacarpophalangeal joint contracture	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011911	HP:0009234	Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal	2	CL E G H
HP:0011911	HP:0005747	Easily subluxated first metacarpophalangeal joints	2	CL E G H
HP:0011911	HP:0009598	Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal	2	CL E G H
HP:0011911	HP:0009483	Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal	2	CL E G H
HP:0011911	HP:0009478	Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal	2	CL E G H
HP:0011911	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0011911	HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28