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:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormal eyelash morphology (HP:0000499)

Parent Node:
Abnormality of hair pigmentation (HP:0009887)

..Starting node
..White eyelashes (HP:0002227)

Term ID:

2227

Name:

White eyelashes

Synonym:

Blonde eyelashes; Depigmented eyelashes; Grey eyelashes; Pale eyelashes; White eyelashes

Definition:

White color (lack of pigmentation) of the eyelashes.

Comments:

Reference:

HP:0002227

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypopigmentation of hair (HP:0005599)

Melanin pigment aggregation in hair shafts (HP:0002220)

Premature graying of hair (HP:0002216)

Red hair (HP:0002297)

White eyebrow (HP:0002226)

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:0002227	HP:0002227	White eyelashes	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0002227	HP:0002227	White eyelashes	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	67
HP:0002227	HP:0002227	White eyelashes	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0002227	HP:0002227	White eyelashes	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	55
HP:0002227	HP:0002227	White eyelashes	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0002227	HP:0002227	White eyelashes	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040282 - Frequent	327
HP:0002227	HP:0002227	White eyelashes	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional	124
HP:0002227	HP:0002227	White eyelashes	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.	91
HP:0002227	HP:0002227	White eyelashes	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0002227	HP:0002227	White eyelashes	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	91
HP:0002227	HP:0002227	White eyelashes	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.	7
HP:0002227	HP:0002227	White eyelashes	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35
HP:0002227	HP:0002227	White eyelashes	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional	121
HP:0002227	HP:0002227	White eyelashes	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0002227	HP:0002227	White eyelashes	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0002227	HP:0002227	White eyelashes	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040282 - Frequent	19
HP:0002227	HP:0002227	White eyelashes	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0002227	HP:0002227	White eyelashes	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0002227	HP:0002227	White eyelashes	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0002227	HP:0002227	White eyelashes	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	61
HP:0002227	HP:0002227	White eyelashes	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040283 - Occasional	62

Genes (12) :EDN3 EDNRB KIT MC1R MITF MLPH MYO5A OCA2 PAX3 SNAI2 SOX10 TYRP1

Diseases (16) :OMIM:613265 ORPHA:897 OMIM:600501 OMIM:277580 ORPHA:2884 ORPHA:79432 OMIM:103500 OMIM:193510 OMIM:609227 OMIM:214450 ORPHA:894 OMIM:193500 OMIM:609136 OMIM:611584 OMIM:613266 ORPHA:79433

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