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 toe (HP:0001991)

Parent Node:
Abnormality of the 3rd toe (HP:0010320)

Parent Node:
Absent toe (HP:0010760)

..Starting node
..Aplasia/Hypoplasia of the 3rd toe (HP:0010331)

Term ID:

10331

Name:

Aplasia/Hypoplasia of the 3rd toe

Synonym:

Absent/hypoplastic third toe; Absent/small 3rd toe; Absent/underdeveloped 3rd toe

Definition:

Comments:

Reference:

HP:0010331

Genes and Diseases:

Child Nodes:

........

Aplasia of the phalanges of the 3rd toe (HP:0100362)

................... HP:0100378 Absent distal phalanx of the 3rd toe
................... HP:0100381 Absent middle phalanx of the 3rd toe
................... HP:0100384 Absent proximal phalanx of the 3rd toe

........

Short phalanx of the 3rd toe (HP:0100366)

................... HP:0100389 Short distal phalanx of the 3rd toe
................... HP:0100392 Short middle phalanx of the 3rd toe
................... HP:0100395 Short proximal phalanx of the 3rd toe

........

Aplasia/Hypoplasia of the distal phalanx of the 3rd toe (HP:0100369)

................... HP:0100378 Absent distal phalanx of the 3rd toe
................... HP:0100389 Short distal phalanx of the 3rd toe

........

Aplasia/Hypoplasia of the middle phalanx of the 3rd toe (HP:0100372)

................... HP:0100381 Absent middle phalanx of the 3rd toe
................... HP:0100392 Short middle phalanx of the 3rd toe

........

Aplasia/hypoplasia of the proximal phalanx of the 3rd toe (HP:0100375)

................... HP:0100384 Absent proximal phalanx of the 3rd toe
................... HP:0100395 Short proximal phalanx of the 3rd toe

Sister Nodes:

Adactyly (HP:0009776)

Aplasia/Hypoplasia of the 2nd toe (HP:0010325)

Aplasia/Hypoplasia of the 4th toe (HP:0010337)

Aplasia/Hypoplasia of the 5th toe (HP:0010343)

Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)

Aplasia/Hypoplasia of the hallux (HP:0008362)

Foot oligodactyly (HP:0001849)

Partial absence of toe (HP:0011305)

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:0010331	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0010331	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010331	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		645
HP:0010331	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0010331	HP:0010331	Aplasia/Hypoplasia of the 3rd toe	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0010331	HP:0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	1	CL E G H
HP:0010331	HP:0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe	1	CL E G H
HP:0010331	HP:0100366	Short phalanx of the 3rd toe	1	CL E G H
HP:0010331	HP:0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010331	HP:0100362	Aplasia of the phalanges of the 3rd toe	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0010331	HP:0100362	Aplasia of the phalanges of the 3rd toe	1	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	645
HP:0010331	HP:0100378	Absent distal phalanx of the 3rd toe	2	CL E G H
HP:0010331	HP:0100395	Short proximal phalanx of the 3rd toe	2	CL E G H
HP:0010331	HP:0100392	Short middle phalanx of the 3rd toe	2	CL E G H
HP:0010331	HP:0100389	Short distal phalanx of the 3rd toe	2	CL E G H
HP:0010331	HP:0100384	Absent proximal phalanx of the 3rd toe	2	CL E G H
HP:0010331	HP:0100381	Absent middle phalanx of the 3rd toe	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4

Genes (4) :DACT1 EOGT LMNA SALL1

Diseases (4) :ORPHA:857 OMIM:615297 ORPHA:2229 OMIM:107480

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