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 middle phalanges of the hand (HP:0009843)

Grandparent Node:
Short finger (HP:0009381)

Grandparent Node:
Short phalanx of finger (HP:0009803)

Parent Node:
Short middle phalanx of finger (HP:0005819)

..Starting node
..Shortening of all middle phalanges of the fingers (HP:0006110)

Term ID:

6110

Name:

Shortening of all middle phalanges of the fingers

Synonym:

Definition:

Short, hypoplastic middle phalanx of finger, affecting all fingers.

Comments:

Reference:

HP:0006110

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short middle phalanx of the 2nd finger (HP:0009577)

Short middle phalanx of the 3rd finger (HP:0009439)

Short middle phalanx of the 4th finger (HP:0009295)

Short middle phalanx of the 5th finger (HP:0004220)

Short proximal phalanx of thumb (HP:0009638)

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:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0006110	HP:0006110	Shortening of all middle phalanges of the fingers	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29

Genes (7) :COL2A1 EIF2AK3 FGFR1 FGFR2 GDF5 HOXA13 PHF6

Diseases (7) :OMIM:271700 OMIM:226980 OMIM:101600 OMIM:201250 OMIM:140000 ORPHA:2438 OMIM:301900

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