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 thorax morphology (HP:0000765)

Parent Node:
Thoracic hypoplasia (HP:0005257)

..Starting node
..Unilateral chest hypoplasia (HP:0005254)

Term ID:

5254

Name:

Unilateral chest hypoplasia

Synonym:

Small chest on one side; Underdeveloped chest on one side

Definition:

Comments:

Reference:

HP:0005254

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital microthorax (HP:0006647)

Narrow chest (HP:0000774)

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:0005254	HP:0005254	Unilateral chest hypoplasia	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22

Genes (1) :MBTPS2

Diseases (1) :OMIM:308205

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