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:
Positional foot deformity (HP:0005656)

Parent Node:
Talipes (HP:0001883)

..Starting node
..Talipes calcaneovalgus (HP:0001884)

Term ID:

1884

Name:

Talipes calcaneovalgus

Synonym:

Pes calcaneovarus

Definition:

Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.

Comments:

Reference:

HP:0001884

Genes and Diseases:

Child Nodes:

........

Congenital talipes calcaneovalgus (HP:0005850)

Sister Nodes:

Talipes calcaneovarus (HP:0008124)

Talipes equinovalgus (HP:0001772)

Talipes equinovarus (HP:0001762)

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:0001884	HP:0001884	Talipes calcaneovalgus	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	.	6
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001884	HP:0001884	Talipes calcaneovalgus	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001884	HP:0005850	Congenital talipes calcaneovalgus	1	CL E G H

Genes (14) :ALDH18A1 ATRX CHRNG DHCR7 ELN ERMARD FBLN5 LMX1B NEFL PLA2G6 PMP22 SPECC1L VIPAS39 VPS33B

Diseases (13) :ORPHA:90348 OMIM:309580 OMIM:265000 OMIM:270400 ORPHA:818 ORPHA:75857 ORPHA:2614 ORPHA:99939 OMIM:610217 OMIM:118300 OMIM:600251 OMIM:613404 OMIM:208085

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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