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:
Abnormality of the phalanges of the 5th toe (HP:0010342)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)

Parent Node:
Abnormality of the distal phalanx of the 5th toe (HP:0010392)

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

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

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383)

..Starting node
..Aplasia/Hypoplasia of the distal phalanx of the 5th toe (HP:0100371)

Term ID:

100371

Name:

Aplasia/Hypoplasia of the distal phalanx of the 5th toe

Synonym:

Absent/small outermost little toe bone; Absent/small outermost pinkie toe bone; Absent/small outermost pinky toe bone; Absent/underdeveloped outermost pinky toe bone

Definition:

Comments:

Reference:

HP:0100371

Genes and Diseases:

Child Nodes:

........

Aplasia of the distal phalanx of the 5th toe (HP:0100380)

........

Short distal phalanx of the 5th toe (HP:0100391)

Sister Nodes:

Aplasia of the phalanges of the 5th toe (HP:0100364)

Aplasia/Hypoplasia of the middle phalanx of the 5th toe (HP:0100374)

Aplasia/hypoplasia of the proximal phalanx of the 5th toe (HP:0100377)

Short phalanx of the 5th toe (HP:0100368)

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:0100371	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0100371	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0100371	HP:0100391	Short distal phalanx of the 5th toe	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0100371	HP:0100380	Aplasia of the distal phalanx of the 5th toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7

Genes (2) :ARID1B KCNN3

Diseases (2) :OMIM:135900 OMIM:618658

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