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 tibia morphology (HP:0002992)

Grandparent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Aplasia/Hypoplasia of the tibia (HP:0005772)

..Starting node
..Rudimentary to absent tibiae (HP:0006426)

Term ID:

6426

Name:

Rudimentary to absent tibiae

Synonym:

Definition:

Comments:

Reference:

HP:0006426

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent tibia (HP:0009556)

Short tibia (HP:0005736)

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:0006426	HP:0006426	Rudimentary to absent tibiae	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270

Genes (1) :GLI3

Diseases (1) :ORPHA:93322

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