Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the tarsal bones (HP:0001850)

Parent Node:
Abnormality of the calcaneus (HP:0008364)

Parent Node:
Deformed tarsal bones (HP:0008119)

..Starting node
..Calcaneovalgus deformity (HP:0001848)

Term ID:

1848

Name:

Calcaneovalgus deformity

Synonym:

Calcaneovalgus; Calcaneovalgus Foot; Foot and ankle bend up toward shin of leg; Valgus position of the calcaneus

Definition:

This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).

Comments:

Reference:

HP:0001848

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Genes (12) :ADAMTSL1 ATP6AP2 COL1A2 ECEL1 EZH2 HOXD10 KANSL1 NALCN PHGDH TNNI2 TPM2 ZEB2

Diseases (15) :ORPHA:521445 ORPHA:93952 ORPHA:230851 OMIM:225320 OMIM:615065 OMIM:277590 OMIM:192950 ORPHA:363958 ORPHA:363965 OMIM:616266 OMIM:256520 OMIM:601680 OMIM:108120 ORPHA:261552 ORPHA:261537

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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