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 lung morphology (HP:0002088)

Parent Node:
Aplasia/Hypoplasia of the lungs (HP:0006703)

..Starting node
..Unilateral lung agenesis (HP:0030707)

Term ID:

30707

Name:

Unilateral lung agenesis

Synonym:

Unilateral pulmonary agenesis

Definition:

Lack of development of one lung.

Comments:

Reference:

HP:0030707

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral lung agenesis (HP:0005944)

Pulmonary hypoplasia (HP:0002089)

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:0030707	HP:0030707	Unilateral lung agenesis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0030707	HP:0030707	Unilateral lung agenesis	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12

Genes (1) :SON

Diseases (2) :ORPHA:500150 OMIM:617140

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