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:0001059	HP:0001059	Pterygium	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0001059	HP:0001059	Pterygium	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0001059	HP:0001059	Pterygium	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0001059	HP:0001059	Pterygium	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0001059	HP:0001059	Pterygium	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0001059	HP:0001059	Pterygium	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0001059	HP:0001059	Pterygium	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0001059	HP:0001059	Pterygium	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0001059	HP:0001059	Pterygium	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0001059	HP:0001059	Pterygium	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001059	HP:0001059	Pterygium	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0001059	HP:0001059	Pterygium	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0001059	HP:0001059	Pterygium	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0001059	HP:0001059	Pterygium	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0001059	HP:0001059	Pterygium	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0001059	HP:0001059	Pterygium	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0001059	HP:0001059	Pterygium	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent	61
HP:0001059	HP:0001059	Pterygium	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	61
HP:0001059	HP:0001059	Pterygium	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040283 - Occasional	99
HP:0001059	HP:0001059	Pterygium	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0001059	HP:0001059	Pterygium	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0001059	HP:0001059	Pterygium	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0001059	HP:0001059	Pterygium	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0001059	HP:0001059	Pterygium	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0001059	HP:0001059	Pterygium	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional	79
HP:0001059	HP:0001059	Pterygium	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0001059	HP:0001059	Pterygium	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional	124
HP:0001059	HP:0001059	Pterygium	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001059	HP:0001059	Pterygium	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0001059	HP:0001059	Pterygium	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0001059	HP:0001059	Pterygium	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0001059	HP:0001059	Pterygium	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0001059	HP:0001059	Pterygium	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0001059	HP:0001059	Pterygium	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A		166
HP:0001059	HP:0001059	Pterygium	0	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0001059	HP:0001059	Pterygium	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0001059	HP:0001059	Pterygium	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0001059	HP:0001059	Pterygium	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0001059	HP:0001059	Pterygium	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0001059	HP:0001059	Pterygium	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001059	HP:0001059	Pterygium	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0001059	HP:0001059	Pterygium	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0001059	HP:0001059	Pterygium	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040282 - Frequent	45
HP:0001059	HP:0001059	Pterygium	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0001059	HP:0001059	Pterygium	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0001059	HP:0001059	Pterygium	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0001059	HP:0001059	Pterygium	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0001059	HP:0001059	Pterygium	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0001059	HP:0001059	Pterygium	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0001059	HP:0001059	Pterygium	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0001059	HP:0001059	Pterygium	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0001059	HP:0009756	Popliteal pterygium	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0001059	HP:0001040	Multiple pterygia	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0001059	HP:0001040	Multiple pterygia	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0001059	HP:0009756	Popliteal pterygium	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	68
HP:0001059	HP:0001060	Axillary pterygium	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	68
HP:0001059	HP:0001040	Multiple pterygia	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	68
HP:0001059	HP:0009760	Antecubital pterygium	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	68
HP:0001059	HP:0009759	Neck pterygia	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001059	HP:0009760	Antecubital pterygium	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001059	HP:0009756	Popliteal pterygium	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001059	HP:0009757	Intercrural pterygium	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001059	HP:0001060	Axillary pterygium	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001059	HP:0001040	Multiple pterygia	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0001059	HP:0001060	Axillary pterygium	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0001059	HP:0009760	Antecubital pterygium	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0001059	HP:0009756	Popliteal pterygium	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0001059	HP:0001060	Axillary pterygium	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001059	HP:0009756	Popliteal pterygium	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001059	HP:0001060	Axillary pterygium	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0001059	HP:0009756	Popliteal pterygium	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0001059	HP:0009756	Popliteal pterygium	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0001059	HP:0009757	Intercrural pterygium	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0001059	HP:0009759	Neck pterygia	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0001059	HP:0001060	Axillary pterygium	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0001059	HP:0009760	Antecubital pterygium	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001059	HP:0009760	Antecubital pterygium	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0001059	HP:0009756	Popliteal pterygium	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	166
HP:0001059	HP:0001040	Multiple pterygia	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	166
HP:0001059	HP:0001060	Axillary pterygium	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	166
HP:0001059	HP:0009760	Antecubital pterygium	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040281 - Very frequent	166
HP:0001059	HP:0001040	Multiple pterygia	1	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.	166
HP:0001059	HP:0009760	Antecubital pterygium	1	MYH3 CL E G H	4621	7573	OMIM:618469	CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B		166
HP:0001059	HP:0009756	Popliteal pterygium	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0001059	HP:0001060	Axillary pterygium	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0001059	HP:0009756	Popliteal pterygium	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0001059	HP:0001060	Axillary pterygium	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0001059	HP:0009756	Popliteal pterygium	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69