Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 musculature (HP:0003011)

Parent Node:
Abnormality of the diaphragm (HP:0000775)

..Starting node
..Aplasia/Hypoplasia of the diaphragm (HP:0010315)

Term ID:

10315

Name:

Aplasia/Hypoplasia of the diaphragm

Synonym:

Absent/small diaprhagm; Absent/underdeveloped diaprhagm

Definition:

Absence or underdevelopment of the diaphragm.

Comments:

Reference:

HP:0010315

Genes and Diseases:

Child Nodes:

........

Agenesis of the diaphragm (HP:0008986)

........

Hypoplasia of the diaphragm (HP:0040044)

Sister Nodes:

Abnormal hemidiaphragm morphology (HP:0040045)

Congenital diaphragmatic hernia (HP:0000776)

Denervation of the diaphragm (HP:0009109)

Diaphragmatic eventration (HP:0009110)

Diaphragmatic weakness (HP:0009113)

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:0010315	HP:0010315	Aplasia/Hypoplasia of the diaphragm	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	37
HP:0010315	HP:0010315	Aplasia/Hypoplasia of the diaphragm	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010315	HP:0010315	Aplasia/Hypoplasia of the diaphragm	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	8
HP:0010315	HP:0010315	Aplasia/Hypoplasia of the diaphragm	0	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040282 - Frequent	31
HP:0010315	HP:0040044	Hypoplasia of the diaphragm	1	CL E G H
HP:0010315	HP:0008986	Agenesis of the diaphragm	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31

Genes (4) :GATA6 HYLS1 LONP1 ZFPM2

Diseases (2) :ORPHA:2140 OMIM:236680

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