Human Phenotype Ontology

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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
..Abnormal hemidiaphragm morphology (HP:0040045)

Term ID:

40045

Name:

Abnormal hemidiaphragm morphology

Synonym:

Abnormality of the hemidiaphragms

Definition:

Comments:

Reference:

HP:0040045

Genes and Diseases:

Child Nodes:

........

Abnormality of the left hemidiaphragm (HP:0040046)

................... HP:0040048 Aplasia of the left hemidiaphragm

........

Abnormality of the right hemidiaphragm (HP:0040047)

Sister Nodes:

Aplasia/Hypoplasia of the diaphragm (HP:0010315)

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:0040045	HP:0040045	Abnormal hemidiaphragm morphology	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0040045	HP:0040045	Abnormal hemidiaphragm morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040045	HP:0040045	Abnormal hemidiaphragm morphology	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0040045	HP:0040045	Abnormal hemidiaphragm morphology	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0040045	HP:0040045	Abnormal hemidiaphragm morphology	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0040045	HP:0040045	Abnormal hemidiaphragm morphology	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0040045	HP:0040045	Abnormal hemidiaphragm morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040045	HP:0040046	Abnormal left hemidiaphragm morphology	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0040045	HP:0040047	Abnormal right hemidiaphragm morphology	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040045	HP:0040046	Abnormal left hemidiaphragm morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0040045	HP:0040047	Abnormal right hemidiaphragm morphology	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional	173
HP:0040045	HP:0040046	Abnormal left hemidiaphragm morphology	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0040045	HP:0040046	Abnormal left hemidiaphragm morphology	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0040045	HP:0040046	Abnormal left hemidiaphragm morphology	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040045	HP:0040047	Abnormal right hemidiaphragm morphology	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040045	HP:0009112	Aplasia of the left hemidiaphragm	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0040045	HP:0032592	Aplasia of the right hemidiaphragm	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040045	HP:0009112	Aplasia of the left hemidiaphragm	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0040045	HP:0009112	Aplasia of the left hemidiaphragm	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0040045	HP:0009112	Aplasia of the left hemidiaphragm	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0040045	HP:0009112	Aplasia of the left hemidiaphragm	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0040045	HP:0032592	Aplasia of the right hemidiaphragm	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177

Genes (7) :ALDH1A2 CDC42BPB GATA6 GNE NDUFAF5 NR2F2 WT1

Diseases (7) :OMIM:620025 OMIM:619841 OMIM:600001 ORPHA:602 OMIM:618238 OMIM:618901 OMIM:608978

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

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