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 fibula (HP:0006492)

Grandparent Node:
Short long bone (HP:0003026)

Parent Node:
Fibular hypoplasia (HP:0003038)

..Starting node
..Rudimentary fibula (HP:0006381)

Term ID:

6381

Name:

Rudimentary fibula

Synonym:

Rudimentary to absent fibulae; Small to absent calf bone; Small to absent fibula

Definition:

Absent or nearly absent fibula. (Does not include aplastic)

Comments:

Reference:

HP:0006381

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of proximal fibula (HP:0006442)

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:0006381	HP:0006381	Rudimentary fibula	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0006381	HP:0006381	Rudimentary fibula	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66

Genes (2) :FLNA SHOX

Diseases (2) :OMIM:304120 OMIM:249700

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