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 adipose tissue morphology (HP:0009124)

Parent Node:
Decreased adipose tissue (HP:0040063)

..Starting node
..Reduced intrathoracic adipose tissue (HP:0003809)

Term ID:

3809

Name:

Reduced intrathoracic adipose tissue

Synonym:

Definition:

An abnormally reduced amount of adipose tissue in the thoracic cavity.

Comments:

Reference:

HP:0003809

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adipose tissue loss (HP:0008887)

Reduced intraabdominal adipose tissue (HP:0025128)

Reduced subcutaneous adipose tissue (HP:0003758)

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:0003809	HP:0003809	Reduced intrathoracic adipose tissue	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0003809	HP:0003809	Reduced intrathoracic adipose tissue	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105

Genes (2) :AGPAT2 BSCL2

Diseases (2) :OMIM:608594 OMIM:269700

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