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:
Increased bone mineral density (HP:0011001)

Parent Node:
Abnormal tarsal bone mineral density (HP:0009132)

Parent Node:
Sclerosis of foot bone (HP:0100925)

..Starting node
..Tarsal sclerosis (HP:0031051)

Term ID:

31051

Name:

Tarsal sclerosis

Synonym:

Definition:

An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.

Comments:

Reference:

HP:0031051

Genes and Diseases:

Child Nodes:

........

Tarsal stippling (HP:0008131)

Sister Nodes:

Metatarsal diaphyseal endosteal sclerosis (HP:0008114)

Sclerosis of toe phalanx (HP:0100924)

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:0031051	HP:0031051	Tarsal sclerosis	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0031051	HP:0031051	Tarsal sclerosis	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0031051	HP:0031051	Tarsal sclerosis	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0031051	HP:0008131	Tarsal stippling	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51

Genes (3) :EBP LEMD3 NGLY1

Diseases (3) :OMIM:302960 ORPHA:166119 ORPHA:404454

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