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:
Abnormality of skin pigmentation (HP:0001000)

..Starting node
..Numerous pigmented freckles (HP:0007587)

Term ID:

7587

Name:

Numerous pigmented freckles

Synonym:

Numerous pigmented freckles

Definition:

Comments:

Reference:

HP:0007587

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of dermal melanosomes (HP:0011125)

Blotching pigmentation of the skin (HP:0007610)

Depigmentation/hyperpigmentation of skin (HP:0007483)

Fine, reticulate skin pigmentation (HP:0007617)

Freckling (HP:0001480)

Hyperpigmentation of the skin (HP:0000953)

Hypopigmentation of the skin (HP:0001010)

Melanocytic nevus (HP:0000995)

Mottled pigmentation (HP:0001070)

Perioral hyperpigmentation (HP:0010802)

Periorbital hyperpigmentation (HP:0001106)

Pigmentation anomalies of sun-exposed skin (HP:0007623)

Profuse pigmented skin lesions (HP:0005587)

Reticulated skin pigmentation (HP:0007427)

Symmetric great toe depigmentation (HP:0200015)

Vitiligo (HP:0001045)

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:0007587	HP:0007587	Numerous pigmented freckles	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007587	HP:0007587	Numerous pigmented freckles	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0007587	HP:0007587	Numerous pigmented freckles	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0007587	HP:0007587	Numerous pigmented freckles	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0007587	HP:0007587	Numerous pigmented freckles	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0007587	HP:0007587	Numerous pigmented freckles	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	.	158
HP:0007587	HP:0007587	Numerous pigmented freckles	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0007587	HP:0007587	Numerous pigmented freckles	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0007587	HP:0007587	Numerous pigmented freckles	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0007587	HP:0007587	Numerous pigmented freckles	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007587	HP:0007587	Numerous pigmented freckles	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0007587	HP:0007587	Numerous pigmented freckles	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0007587	HP:0007587	Numerous pigmented freckles	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007587	HP:0007587	Numerous pigmented freckles	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional

Genes (11) :CARS1 ERCC2 ERCC3 ERCC4 ERCC5 GTF2E2 GTF2H5 MITF MPLKIP RNF113A TARS1

Diseases (4) :ORPHA:33364 ORPHA:220295 OMIM:278760 OMIM:193510

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