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
..Bilateral lung agenesis (HP:0005944)

Term ID:

5944

Name:

Bilateral lung agenesis

Synonym:

Absent lungs; Bilateral pulmonary agenesis

Definition:

Bilateral lack of development of the lungs.

Comments:

Reference:

HP:0005944

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pulmonary hypoplasia (HP:0002089)

Unilateral lung agenesis (HP:0030707)

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:0005944	HP:0005944	Bilateral lung agenesis	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0005944	HP:0005944	Bilateral lung agenesis	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0005944	HP:0005944	Bilateral lung agenesis	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0005944	HP:0005944	Bilateral lung agenesis	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	HP:0040281 - Very frequent	4

Genes (4) :RSPO2 STRA6 TCTN3 WNT4

Diseases (4) :OMIM:618021 OMIM:601186 ORPHA:2753 OMIM:611812

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