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 middle phalanx morphology of the hand (HP:0009833)

Grandparent Node:
Abnormal proximal phalanx morphology of the hand (HP:0009834)

Grandparent Node:
Duplication of phalanx of hand (HP:0009997)

Parent Node:
Complete duplication of phalanx of hand (HP:0009998)

Parent Node:
Duplication of the middle phalanx of hand (HP:0010008)

..Starting node
..Complete duplication of the middle phalanges of the hand (HP:0010002)

Term ID:

10002

Name:

Complete duplication of the middle phalanges of the hand

Synonym:

Complete duplication of the middle bones of the hand

Definition:

A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.

Comments:

Reference:

HP:0010002

Genes and Diseases:

Child Nodes:

........

Complete duplication of proximal phalanx of the thumb (HP:0009608)

........

Complete duplication of the middle phalanx of the 2nd finger (HP:0009952)

........

Complete duplication of the middle phalanx of the 3rd finger (HP:0009966)

........

Complete duplication of the middle phalanx of the 4th finger (HP:0009979)

........

Complete duplication of the middle phalanx of the 5th finger (HP:0009992)

Sister Nodes:

Duplication of the middle phalanx of the 2nd finger (HP:0009949)

Duplication of the middle phalanx of the 3rd finger (HP:0009963)

Duplication of the middle phalanx of the 4th finger (HP:0009976)

Duplication of the middle phalanx of the 5th finger (HP:0009989)

Duplication of the proximal phalanx of the thumb (HP:0009613)

Partial duplication of the middle phalanges of the hand (HP:0010005)

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:0010002	HP:0010002	Complete duplication of the middle phalanges of the hand	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0010002	HP:0010002	Complete duplication of the middle phalanges of the hand	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010002	HP:0009992	Complete duplication of the middle phalanx of the 5th finger	1	CL E G H
HP:0010002	HP:0009979	Complete duplication of the middle phalanx of the 4th finger	1	CL E G H
HP:0010002	HP:0009952	Complete duplication of the middle phalanx of the 2nd finger	1	CL E G H
HP:0010002	HP:0009966	Complete duplication of the middle phalanx of the 3rd finger	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0010002	HP:0009608	Complete duplication of proximal phalanx of the thumb	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0010002	HP:0009608	Complete duplication of proximal phalanx of the thumb	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31

Genes (2) :CHSY1 RAB23

Diseases (2) :ORPHA:363417 OMIM:201000

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