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:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0010754	HP:0010754	Abnormality of the temporomandibular joint	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0010754	HP:0032328	Temporomandibular joint adhesion	1	CL E G H
HP:0010754	HP:0012478	Temporomandibular joint ankylosis	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0010754	HP:0012478	Temporomandibular joint ankylosis	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0010754	HP:0012478	Temporomandibular joint ankylosis	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0010754	HP:0012478	Temporomandibular joint ankylosis	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0010754	HP:0012479	Temporomandibular joint crepitus	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0010754	HP:0012478	Temporomandibular joint ankylosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0010754	HP:0012478	Temporomandibular joint ankylosis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83