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)

..Starting node
..Equinus calcaneus (HP:0008138)

Term ID:

8138

Name:

Equinus calcaneus

Synonym:

Equinus deformity of the calcaneus; Hindfoot equinus

Definition:

Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.

Comments:

Reference:

HP:0008138

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bipartite calcaneus (HP:0008127)

Calcaneovalgus deformity (HP:0001848)

Delayed calcaneal ossification (HP:0008142)

Hypoplasia of the calcaneus (HP:0012789)

Prominent calcaneus (HP:0012428)

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:0008138	HP:0008138	Equinus calcaneus	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0008138	HP:0008138	Equinus calcaneus	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0008138	HP:0008138	Equinus calcaneus	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0008138	HP:0008138	Equinus calcaneus	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0008138	HP:0008138	Equinus calcaneus	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0008138	HP:0008138	Equinus calcaneus	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0008138	HP:0008138	Equinus calcaneus	0	HOXD10 CL E G H	3236	5133	OMIM:192950	Vertical talus, congenital	.	33
HP:0008138	HP:0008138	Equinus calcaneus	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1

Genes (8) :AEBP1 FBN1 GJB2 GJB6 HADHA HADHB HOXD10 SYT1

Diseases (6) :ORPHA:536532 OMIM:154700 ORPHA:477 ORPHA:746 OMIM:192950 ORPHA:522077

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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