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 finger phalanx morphology (HP:0005918)

Parent Node:
Abnormal 5th finger phalanx morphology (HP:0004213)

Parent Node:
Triangular shaped phalanges of the hand (HP:0009774)

..Starting node
..Triangular shaped phalanges of the 5th finger (HP:0009378)

Term ID:

9378

Name:

Triangular shaped phalanges of the 5th finger

Synonym:

Triangular shaped little finger bones; Triangular shaped pinkie finger bones; Triangular shaped pinky finger bones

Definition:

Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

Comments:

Reference:

HP:0009378

Genes and Diseases:

Child Nodes:

........

Triangular shaped middle phalanx of the 5th finger (HP:0009182)

................... HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx

........

Triangular shaped proximal phalanx of the 5th finger (HP:0009233)

................... HP:0009236 Rhomboid or triangular shaped 5th finger proximal phalanx

........

Triangular shaped distal phalanx of the 5th finger (HP:0009245)

................... HP:0009379 Rhomboid or triangular shaped 5th finger distal phalanx

Sister Nodes:

Abnormality of the phalanges of the 2nd finger (HP:0009541)

Abnormality of thumb phalanx (HP:0009602)

Triangular shaped distal phalanges of the hand (HP:0009875)

Triangular shaped middle phalanges of the hand (HP:0009850)

Triangular shaped phalanges of the 3rd finger (HP:0009446)

Triangular shaped phalanges of the 4th finger (HP:0009407)

Triangular shaped proximal phalanges of the hand (HP:0009858)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009378	HP:0009378	Triangular shaped phalanges of the 5th finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	13
HP:0009378	HP:0009378	Triangular shaped phalanges of the 5th finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	90
HP:0009378	HP:0009378	Triangular shaped phalanges of the 5th finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	52
HP:0009378	HP:0009245	Triangular shaped distal phalanx of the 5th finger	1	CL E G H
HP:0009378	HP:0009233	Triangular shaped proximal phalanx of the 5th finger	1	CL E G H
HP:0009378	HP:0009182	Triangular shaped middle phalanx of the 5th finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	13
HP:0009378	HP:0009182	Triangular shaped middle phalanx of the 5th finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	90
HP:0009378	HP:0009182	Triangular shaped middle phalanx of the 5th finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	52
HP:0009378	HP:0009379	Rhomboid or triangular shaped 5th finger distal phalanx	2	CL E G H
HP:0009378	HP:0009236	Rhomboid or triangular shaped 5th finger proximal phalanx	2	CL E G H
HP:0009378	HP:0005910	Rhomboid or triangular shaped 5th finger middle phalanx	2	CL E G H

Genes (3) :BMP2 BMPR1B GDF5

Diseases (1) :OMIM:112600

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