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:
Abnormal long bone morphology (HP:0011314)

Parent Node:
Abnormal diaphysis morphology (HP:0000940)

Parent Node:
Slender long bone (HP:0003100)

..Starting node
..Slender long bones with narrow diaphyses (HP:0004993)

Term ID:

4993

Name:

Slender long bones with narrow diaphyses

Synonym:

Slender long bones with narrow shaft

Definition:

Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.

Comments:

Reference:

HP:0004993

Genes and Diseases:

Child Nodes:

Sister Nodes:

Slender humerus (HP:0003882)

Slender radius (HP:0040062)

Slender ulna (HP:0003992)

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:0004993	HP:0004993	Slender long bones with narrow diaphyses	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0004993	HP:0004993	Slender long bones with narrow diaphyses	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0004993	HP:0004993	Slender long bones with narrow diaphyses	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0004993	HP:0004993	Slender long bones with narrow diaphyses	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0004993	HP:0004993	Slender long bones with narrow diaphyses	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6

Genes (5) :ATP6V0A2 B3GALT6 FIG4 HNRNPH1 VAC14

Diseases (4) :ORPHA:2834 ORPHA:536467 ORPHA:3472 OMIM:620083

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