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
..Long thorax (HP:0100818)

Term ID:

100818

Name:

Long thorax

Synonym:

Long rib cage

Definition:

Increased inferior to superior extent of the thorax.

Comments:

Reference:

HP:0100818

Genes and Diseases:

Child Nodes:

Sister Nodes:

Barrel-shaped chest (HP:0001552)

Increased anterioposterior diameter of thorax (HP:0005253)

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:0100818	HP:0100818	Long thorax	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional	101
HP:0100818	HP:0100818	Long thorax	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0100818	HP:0100818	Long thorax	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100818	HP:0100818	Long thorax	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional	23
HP:0100818	HP:0100818	Long thorax	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0100818	HP:0100818	Long thorax	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0100818	HP:0100818	Long thorax	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0100818	HP:0100818	Long thorax	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214

Genes (8) :BCOR INTU KAT6A NAA10 PCGF2 PRKACA PRKACB TRPV4

Diseases (7) :ORPHA:568 OMIM:617925 OMIM:616268 OMIM:618371 OMIM:619142 OMIM:619143 ORPHA:2635

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

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