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:
Abnormality of the calf (HP:0002981)

Grandparent Node:
obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

Parent Node:
Abnormal lower-limb metaphysis morphology (HP:0006490)

Parent Node:
Abnormality of tibia morphology (HP:0002992)

..Starting node
..Abnormal tibial metaphysis morphology (HP:0006491)

Term ID:

6491

Name:

Abnormal tibial metaphysis morphology

Synonym:

Abnormality of the tibial metaphysis; Abnormality of the wide portion of shankbone; Abnormality of the wide portion of shinbone

Definition:

Comments:

Reference:

HP:0006491

Genes and Diseases:

Child Nodes:

........

Broad tibial metaphyses (HP:0006413)

........

Peg-like central prominence of distal tibial metaphyses (HP:0006423)

Sister Nodes:

Abnormality of the tibial plateaux (HP:0003832)

Abnormality of tibial epiphyses (HP:0006508)

Aplasia/Hypoplasia of the tibia (HP:0005772)

Increased length of the tibia (HP:0010504)

Morbus Osgood-Schlatter (HP:0010890)

Synostosis involving the tibia (HP:0005929)

Tibial bowing (HP:0002982)

Tibial pseudarthrosis (HP:0009736)

Tibial spur (HP:0031173)

Tibial torsion (HP:0100694)

Tibiofibular diastasis (HP:0100535)

Triangular tibia (HP:0031260)

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:0006491	HP:0006491	Abnormal tibial metaphysis morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0006491	HP:0006491	Abnormal tibial metaphysis morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	833
HP:0006491	HP:0006491	Abnormal tibial metaphysis morphology	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	365
HP:0006491	HP:0006491	Abnormal tibial metaphysis morphology	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	911
HP:0006491	HP:0006413	Broad tibial metaphyses	1	CL E G H
HP:0006491	HP:0006423	Peg-like central prominence of distal tibial metaphyses	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60

Genes (4) :AIFM1 CHEK2 RB1 TP53

Diseases (2) :OMIM:300232 ORPHA:668

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