Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 skin morphology (HP:0011121)

Parent Node:
Abnormal cutaneous elastic fiber morphology (HP:0025082)

..Starting node
..Fragmented elastic fibers in the dermis (HP:0025167)

Term ID:

25167

Name:

Fragmented elastic fibers in the dermis

Synonym:

Fragmented elastic fibres in the dermis

Definition:

Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.

Comments:

Reference:

HP:0025167

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clumping of elastic fibers in the dermis (HP:0025165)

Increased number of elastic fibers in the dermis (HP:0025164)

Thickened elastic fibers in the dermis (HP:0025166)

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:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent	2
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	45
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	63
HP:0025167	HP:0025167	Fragmented elastic fibers in the dermis	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent

Genes (9) :ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 CYP26C1 EFEMP2 ELN FBLN5 LTBP1

Diseases (5) :ORPHA:90348 ORPHA:357074 ORPHA:2834 ORPHA:398189 ORPHA:90349

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen