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
..Prominent calcaneus (HP:0012428)

Term ID:

12428

Name:

Prominent calcaneus

Synonym:

Prominent heel bone

Definition:

Protruding heel bone, or calcaneus.

Comments:

Reference:

HP:0012428

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bipartite calcaneus (HP:0008127)

Calcaneovalgus deformity (HP:0001848)

Delayed calcaneal ossification (HP:0008142)

Equinus calcaneus (HP:0008138)

Hypoplasia of the calcaneus (HP:0012789)

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:0012428	HP:0012428	Prominent calcaneus	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0012428	HP:0012428	Prominent calcaneus	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0012428	HP:0012428	Prominent calcaneus	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0012428	HP:0012428	Prominent calcaneus	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0012428	HP:0012428	Prominent calcaneus	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0012428	HP:0012428	Prominent calcaneus	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0012428	HP:0012428	Prominent calcaneus	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0012428	HP:0012428	Prominent calcaneus	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0012428	HP:0012428	Prominent calcaneus	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34

Genes (9) :CCDC8 DLK1 DYM GFM2 MEG3 OBSL1 RSPRY1 RTL1 SATB2

Diseases (7) :OMIM:614205 ORPHA:96334 OMIM:223800 ORPHA:565624 OMIM:612921 ORPHA:457395 ORPHA:251028

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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