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)

..Starting node
..Short diaphyses (HP:0000941)

Term ID:

941

Name:

Short diaphyses

Synonym:

Short shaft of long bone

Definition:

Comments:

Reference:

HP:0000941

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the medullary cavity of the long bones (HP:0100253)

Cortical thickening of long bone diaphyses (HP:0005791)

Diaphyseal dysplasia (HP:0100252)

Diaphyseal sclerosis (HP:0003034)

Diaphyseal thickening (HP:0005019)

Metatarsal diaphyseal endosteal sclerosis (HP:0008114)

obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Slender long bones with narrow diaphyses (HP:0004993)

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:0000941	HP:0000941	Short diaphyses	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0000941	HP:0000941	Short diaphyses	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11

Genes (2) :FLNA MAP3K7

Diseases (1) :ORPHA:1826

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