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)

Grandparent Node:
Increased connective tissue (HP:0009025)

Parent Node:
Abnormality of the neck (HP:0000464)

Parent Node:
Increased adipose tissue (HP:0009126)

..Starting node
..Increased adipose tissue around the neck (HP:0000468)

Term ID:

468

Name:

Increased adipose tissue around the neck

Synonym:

Increased fat around the neck

Definition:

An increased amount of subcutaneous fat tissue around the neck.

Comments:

Reference:

HP:0000468

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased intraabdominal fat (HP:0008993)

Increased intramuscular fat (HP:0008985)

Increased subcutaneous truncal adipose tissue (HP:0009003)

Lipedema (HP:0100695)

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:0000468	HP:0000468	Increased adipose tissue around the neck	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate	7
HP:0000468	HP:0000468	Increased adipose tissue around the neck	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0000468	HP:0000468	Increased adipose tissue around the neck	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000468	HP:0000468	Increased adipose tissue around the neck	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645

Genes (2) :LIPE LMNA

Diseases (4) :ORPHA:435660 ORPHA:280365 OMIM:151660 OMIM:248370

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