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 elasticity of skin (HP:0010647)

Parent Node:
Abnormally lax or hyperextensible skin (HP:0008067)

..Starting node
..Increased number of skin folds (HP:0007522)

Term ID:

7522

Name:

Increased number of skin folds

Synonym:

Increased number of skin folds

Definition:

Comments:

Reference:

HP:0007522

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cutis laxa (HP:0000973)

Delayed recoil upon stretching of skin (HP:0025087)

Excessive wrinkled skin (HP:0007392)

Hyperextensible skin (HP:0000974)

Localized area of pendulous skin (HP:0025182)

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:0007522	HP:0007522	Increased number of skin folds	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0007522	HP:0007522	Increased number of skin folds	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0007522	HP:0007522	Increased number of skin folds	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0007522	HP:0007522	Increased number of skin folds	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0007522	HP:0007522	Increased number of skin folds	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040281 - Very frequent	4
HP:0007522	HP:0007522	Increased number of skin folds	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040281 - Very frequent	14

Genes (6) :ALDH18A1 ELN FBLN5 GGCX MAPRE2 TUBB

Diseases (3) :ORPHA:90348 ORPHA:436274 ORPHA:2505

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