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:
Synostosis involving bones of the lower limbs (HP:0009138)

Parent Node:
Synostosis involving the fibula (HP:0005928)

Parent Node:
Synostosis involving the tibia (HP:0005929)

..Starting node
..Proximal tibial and fibular fusion (HP:0005892)

Term ID:

5892

Name:

Proximal tibial and fibular fusion

Synonym:

Fusion of innermost shinbone and calf bone

Definition:

Comments:

Reference:

HP:0005892

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005892	HP:0005892	Proximal tibial and fibular fusion	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0005892	HP:0005892	Proximal tibial and fibular fusion	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76

Genes (2) :GLI3 POR

Diseases (2) :ORPHA:93322 ORPHA:95699

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