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:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormal adiponectin level (HP:0030684)

..Starting node
..Decreased adiponectin level (HP:0030685)

Term ID:

30685

Name:

Decreased adiponectin level

Synonym:

Definition:

A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.

Comments:

Reference:

HP:0030685

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased adiponectin level (HP:0030686)

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:0030685	HP:0030685	Decreased adiponectin level	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0030685	HP:0030685	Decreased adiponectin level	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0030685	HP:0030685	Decreased adiponectin level	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0030685	HP:0030685	Decreased adiponectin level	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0030685	HP:0030685	Decreased adiponectin level	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645

Genes (4) :AKT2 CIDEC LIPE LMNA

Diseases (5) :ORPHA:79085 ORPHA:435651 OMIM:615238 ORPHA:435660 ORPHA:280365

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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