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 rib cage morphology (HP:0001547)

Parent Node:
Enlarged thorax (HP:0100625)

..Starting node
..Increased anterioposterior diameter of thorax (HP:0005253)

Term ID:

5253

Name:

Increased anterioposterior diameter of thorax

Synonym:

Increased anterioposterior diameter of chest

Definition:

Comments:

Reference:

HP:0005253

Genes and Diseases:

Child Nodes:

Sister Nodes:

Barrel-shaped chest (HP:0001552)

Long thorax (HP:0100818)

Shield chest (HP:0000914)

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:0005253	HP:0005253	Increased anterioposterior diameter of thorax	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0005253	HP:0005253	Increased anterioposterior diameter of thorax	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0005253	HP:0005253	Increased anterioposterior diameter of thorax	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (2) :LMNA ZMPSTE24

Diseases (2) :ORPHA:1662 OMIM:275210

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