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:0008119	HP:0008119	Deformed tarsal bones	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008119	HP:0008119	Deformed tarsal bones	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0008119	HP:0008119	Deformed tarsal bones	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0008119	HP:0008119	Deformed tarsal bones	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0008119	HP:0008119	Deformed tarsal bones	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0008119	HP:0008119	Deformed tarsal bones	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0008119	HP:0008119	Deformed tarsal bones	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0008119	HP:0008119	Deformed tarsal bones	0	HOXD10 CL E G H	3236	5133	OMIM:192950	Vertical talus, congenital		33
HP:0008119	HP:0008119	Deformed tarsal bones	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0008119	HP:0008119	Deformed tarsal bones	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0008119	HP:0008119	Deformed tarsal bones	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0008119	HP:0008119	Deformed tarsal bones	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0008119	HP:0008119	Deformed tarsal bones	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B		37
HP:0008119	HP:0008119	Deformed tarsal bones	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0008119	HP:0008119	Deformed tarsal bones	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0008119	HP:0008119	Deformed tarsal bones	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	HP:0040283 - Occasional	37
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	HOXD10 CL E G H	3236	5133	OMIM:192950	Vertical talus, congenital	.	33
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.	54
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0008119	HP:0001848	Calcaneovalgus deformity	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362