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 5th finger phalanx morphology (HP:0004213)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

Parent Node:
Abnormality of the distal phalanx of the 5th finger (HP:0004225)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)

..Starting node
..Aplasia/Hypoplasia of the distal phalanx of the 5th finger (HP:0009239)

Term ID:

9239

Name:

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

Synonym:

Absent/small outermost bone of little finger; Absent/small outermost bone of pinkie finger; Absent/small outermost bone of pinky finger; Absent/underdeveloped outermost bone of pinky finger

Definition:

Comments:

Reference:

HP:0009239

Genes and Diseases:

Child Nodes:

........

Short distal phalanx of the 5th finger (HP:0004227)

........

Aplasia of the distal phalanx of the 5th finger (HP:0009246)

Sister Nodes:

Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)

Aplasia/Hypoplasia of the proximal phalanx of the 5th finger (HP:0009192)

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:0009239	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0009239	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009239	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0009239	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009239	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0009239	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0009239	HP:0009246	Aplasia of the distal phalanx of the 5th finger	1	CL E G H
HP:0009239	HP:0004227	Short distal phalanx of the 5th finger	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0009239	HP:0004227	Short distal phalanx of the 5th finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009239	HP:0004227	Short distal phalanx of the 5th finger	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0009239	HP:0004227	Short distal phalanx of the 5th finger	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009239	HP:0004227	Short distal phalanx of the 5th finger	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0009239	HP:0004227	Short distal phalanx of the 5th finger	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87

Genes (6) :ARID1B COL2A1 H19-ICR HNRNPR IGF2 SMARCB1

Diseases (5) :OMIM:135900 OMIM:271700 OMIM:180860 OMIM:620073 OMIM:614608

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