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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Abnormality of subcutaneous fat tissue (HP:0001001)

..Starting node
..Abnormal subcutaneous fat tissue distribution (HP:0007552)

Term ID:

7552

Name:

Abnormal subcutaneous fat tissue distribution

Synonym:

Abnormal fat tissue distribution below the skin

Definition:

Comments:

Reference:

HP:0007552

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dorsocervical fat pad (HP:0025383)

Increased subcutaneous truncal adipose tissue (HP:0009003)

Reduced subcutaneous adipose tissue (HP:0003758)

Subcutaneous lipoma (HP:0001031)

Yellow subcutaneous tissue covered by thin, scaly skin (HP:0007525)

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:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0007552	HP:0007552	Abnormal subcutaneous fat tissue distribution	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13

Genes (12) :AKT1 ATP6V0A2 ATP6V1A ATP6V1E1 PDE11A PDE8B PMM2 PRKACA PRKAR1A PTEN TBL1XR1 TGFB1

Diseases (7) :ORPHA:744 ORPHA:357074 ORPHA:189439 OMIM:212065 ORPHA:79318 ORPHA:487825 ORPHA:1328

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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