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:
Abnormality of subcutaneous fat tissue (HP:0001001)

Grandparent Node:
Decreased adipose tissue (HP:0040063)

Parent Node:
Reduced subcutaneous adipose tissue (HP:0003758)

..Starting node
..Decreased adipose tissue around neck (HP:0005995)

Term ID:

5995

Name:

Decreased adipose tissue around neck

Synonym:

Loss of adipose tissue around the neck; Loss of fat around neck

Definition:

Reduced amount of adipose tissue in the region of the neck.

Comments:

Reference:

HP:0005995

Genes and Diseases:

Child Nodes:

Sister Nodes:

Minimal subcutaneous fat (HP:0003717)

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:0005995	HP:0005995	Decreased adipose tissue around neck	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0005995	HP:0005995	Decreased adipose tissue around neck	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83

Genes (2) :CAV1 ZMPSTE24

Diseases (2) :OMIM:606721 OMIM:608612

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