Human Phenotype Ontology

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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 calcaneovarus (HP:0008124)

Term ID:

8124

Name:

Talipes calcaneovarus

Synonym:

Definition:

A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.

Comments:

Reference:

HP:0008124

Genes and Diseases:

Child Nodes:

Sister Nodes:

Talipes calcaneovalgus (HP:0001884)

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:0008124	HP:0008124	Talipes calcaneovarus	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0008124	HP:0008124	Talipes calcaneovarus	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0008124	HP:0008124	Talipes calcaneovarus	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0008124	HP:0008124	Talipes calcaneovarus	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional	79

Genes (4) :FBN1 KDM5C LMX1B PMP22

Diseases (4) :ORPHA:284979 OMIM:300534 ORPHA:2614 ORPHA:90658

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