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:0003037	HP:0003037	Enlarged joints	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003037	HP:0003037	Enlarged joints	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003037	HP:0003037	Enlarged joints	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0003037	HP:0003037	Enlarged joints	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0003037	HP:0003037	Enlarged joints	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0003037	HP:0003037	Enlarged joints	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent	284
HP:0003037	HP:0003037	Enlarged joints	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0003037	HP:0003037	Enlarged joints	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0003037	HP:0003037	Enlarged joints	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia		284
HP:0003037	HP:0003037	Enlarged joints	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0003037	HP:0003037	Enlarged joints	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0003037	HP:0003037	Enlarged joints	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0003037	HP:0003037	Enlarged joints	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0003037	HP:0003037	Enlarged joints	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0003037	HP:0003037	Enlarged joints	0	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints		32
HP:0003037	HP:0003037	Enlarged joints	0	MATN3 CL E G H	4148	6909	ORPHA:156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0040283 - Occasional	32
HP:0003037	HP:0003037	Enlarged joints	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0003037	HP:0003037	Enlarged joints	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0003037	HP:0003037	Enlarged joints	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0003037	HP:0003037	Enlarged joints	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0003037	HP:0003973	Wide radioulnar joints	1	CL E G H
HP:0003037	HP:0006247	Enlarged interphalangeal joints	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003037	HP:0006247	Enlarged interphalangeal joints	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0003037	HP:0006247	Enlarged interphalangeal joints	1	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia		284
HP:0003037	HP:0006247	Enlarged interphalangeal joints	1	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V		25
HP:0003037	HP:0006247	Enlarged interphalangeal joints	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0003037	HP:0006247	Enlarged interphalangeal joints	1	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints		32
HP:0003037	HP:0012314	Bouchard's node	2	CL E G H
HP:0003037	HP:0012313	Heberden's node	2	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0003037	HP:0006185	Enlarged proximal interphalangeal joints	2	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0003037	HP:0006185	Enlarged proximal interphalangeal joints	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0003037	HP:0012313	Heberden's node	2	MATN3 CL E G H	4148	6909	OMIM:140600	Osteoarthritis of distal interphalangeal joints	.	32