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

Grandparent Node:
Short long bone (HP:0003026)

Parent Node:
Short tibia (HP:0005736)

..Starting node
..Disproportionate shortening of the tibia (HP:0005766)

Term ID:

5766

Name:

Disproportionate shortening of the tibia

Synonym:

Disproportionate shortening of the shankbone; Disproportionate shortening of the shinbone; Marked shortening of tibia

Definition:

Comments:

Reference:

HP:0005766

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Shortening of the tibia (HP:0006436)

Proximal tibial hypoplasia (HP:0006379)

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:0005766	HP:0005766	Disproportionate shortening of the tibia	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101

Genes (1) :NEK1

Diseases (1) :OMIM:263520

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