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:
Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058)

Grandparent Node:
Hypoplasia of the phalanges of the toes (HP:0010746)

Grandparent Node:
Short hallux (HP:0010109)

Parent Node:
Aplasia/Hypoplasia of the proximal phalanx of the hallux (HP:0010085)

Parent Node:
Short phalanx of hallux (HP:0010111)

..Starting node
..Short proximal phalanx of hallux (HP:0010107)

Term ID:

10107

Name:

Short proximal phalanx of hallux

Synonym:

Hypoplastic proximal phalanx of the hallux; Short innermost big toe bone; Short proximal phalanges of halluces; Short proximal phalanx of halluces; Small proximal phalanx of big toe; Small proximal phalanx of hallux

Definition:

Underdevelopment (hypoplasia) of the proximal phalanx of big toe.

Comments:

Reference:

HP:0010107

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of hallux (HP:0010103)

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:0010107	HP:0010107	Short proximal phalanx of hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0010107	HP:0010107	Short proximal phalanx of hallux	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010107	HP:0010107	Short proximal phalanx of hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6

Genes (3) :FIG4 IHH VAC14

Diseases (2) :ORPHA:3472 OMIM:112500

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