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:
Optic disc pallor (HP:0000543)

Parent Node:
Diffuse optic disc pallor (HP:0012512)

..Starting node
..Peripapillary atrophy (HP:0500087)

Term ID:

500087

Name:

Peripapillary atrophy

Synonym:

Definition:

Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.

Comments:

Reference:

HP:0500087

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0500087	HP:0500087	Peripapillary atrophy	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0500087	HP:0500087	Peripapillary atrophy	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0500087	HP:0500087	Peripapillary atrophy	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0500087	HP:0500087	Peripapillary atrophy	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0500087	HP:0500087	Peripapillary atrophy	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare	193
HP:0500087	HP:0500087	Peripapillary atrophy	0	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	HP:0040284 - Very rare	2
HP:0500087	HP:0500087	Peripapillary atrophy	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0500087	HP:0500087	Peripapillary atrophy	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0500087	HP:0500087	Peripapillary atrophy	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.	1
HP:0500087	HP:0500087	Peripapillary atrophy	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0500087	HP:0500087	Peripapillary atrophy	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	HP:0040284 - Very rare	14

Genes (11) :B3GALT6 C1QTNF5 CNGA3 COL18A1 COL4A1 MMP19 POMGNT1 SCAPER TUB TUBB4B ZNF408

Diseases (11) :ORPHA:536467 ORPHA:67042 OMIM:216900 OMIM:267750 OMIM:175780 OMIM:611543 OMIM:617123 OMIM:618195 OMIM:616188 OMIM:617879 OMIM:616469

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