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:
Abnormality of fibula morphology (HP:0002991)

..Starting node
..Decreased fibular diameter (HP:0031107)

Term ID:

31107

Name:

Decreased fibular diameter

Synonym:

Thin fibula

Definition:

Reduced width of the cross sectional diameter of the fibula.

Comments:

Reference:

HP:0031107

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the fibula (HP:0006492)

Fibular bowing (HP:0010502)

Fibular duplication (HP:0010503)

Fibular overgrowth (HP:0003099)

Increased fibular diameter (HP:0012107)

Long fibula (HP:0003085)

Serpentine fibula (HP:0030045)

Synostosis involving the fibula (HP:0005928)

Tibiofibular diastasis (HP:0100535)

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:0031107	HP:0031107	Decreased fibular diameter	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0031107	HP:0031107	Decreased fibular diameter	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0031107	HP:0031107	Decreased fibular diameter	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.	2

Genes (3) :MTX2 PAPPA2 TAPT1

Diseases (3) :OMIM:619127 OMIM:619489 OMIM:616897

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