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:
Abnormality of the diaphragm (HP:0000775)

Parent Node:
Aplasia/Hypoplasia of the diaphragm (HP:0010315)

..Starting node
..Agenesis of the diaphragm (HP:0008986)

Term ID:

8986

Name:

Agenesis of the diaphragm

Synonym:

Absent diaphragm; Agenesis of diaphragm

Definition:

Congenital lack, i.e., aplasia of the diaphragm.

Comments:

Reference:

HP:0008986

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the diaphragm (HP:0040044)

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:0008986	HP:0008986	Agenesis of the diaphragm	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31

Genes (1) :HYLS1

Diseases (1) :OMIM:236680

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