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
..Minimal subcutaneous fat (HP:0003717)

Term ID:

3717

Name:

Minimal subcutaneous fat

Synonym:

Minimal fat below the skin

Definition:

Comments:

Reference:

HP:0003717

Genes and Diseases:

Child Nodes:

........

Lack of facial subcutaneous fat (HP:0005320)

Sister Nodes:

Decreased adipose tissue around neck (HP:0005995)

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:0003717	HP:0003717	Minimal subcutaneous fat	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003717	HP:0003717	Minimal subcutaneous fat	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0003717	HP:0003717	Minimal subcutaneous fat	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0003717	HP:0003717	Minimal subcutaneous fat	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0003717	HP:0005320	Lack of facial subcutaneous fat	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11

Genes (4) :CAV1 LMNA NAA10 SKI

Diseases (4) :OMIM:606721 ORPHA:280365 OMIM:300855 OMIM:182212

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