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 the phalanges of the hand (HP:0009767)

Parent Node:
Aplasia/Hypoplasia of the proximal phalanges of the hand (HP:0009851)

Parent Node:
Short finger (HP:0009381)

Parent Node:
Short phalanx of finger (HP:0009803)

..Starting node
..Short proximal phalanx of finger (HP:0010241)

Term ID:

10241

Name:

Short proximal phalanx of finger

Synonym:

Hypoplasia of the proximal phalanges of the hand; Short innermost finger bones; Short proximal phalanges; Short proximal phalanx of finger; Shortening in proximal phalanges

Definition:

Congenital hypoplasia of one or more proximal phalanx of finger.

Comments:

Reference:

HP:0010241

Genes and Diseases:

Child Nodes:

........

Shortening of all proximal phalanges of the fingers (HP:0006144)

........

Short proximal phalanx of the 5th finger (HP:0009226)

........

Short proximal phalanx of the 4th finger (HP:0009301)

........

Short proximal phalanx of the 3rd finger (HP:0009459)

........

Short proximal phalanx of the 2nd finger (HP:0009597)

Sister Nodes:

Short distal phalanx of finger (HP:0009882)

Short middle phalanx of finger (HP:0005819)

Short pointed phalanges (HP:0006045)

Shortening of all phalanges of fingers (HP:0011910)

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:0010241	HP:0010241	Short proximal phalanx of finger	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0010241	HP:0010241	Short proximal phalanx of finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0010241	HP:0010241	Short proximal phalanx of finger	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0010241	HP:0010241	Short proximal phalanx of finger	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0010241	HP:0010241	Short proximal phalanx of finger	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0010241	HP:0010241	Short proximal phalanx of finger	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0010241	HP:0010241	Short proximal phalanx of finger	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0010241	HP:0009459	Short proximal phalanx of the 3rd finger	1	CL E G H
HP:0010241	HP:0009301	Short proximal phalanx of the 4th finger	1	CL E G H
HP:0010241	HP:0006144	Shortening of all proximal phalanges of the fingers	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0010241	HP:0006144	Shortening of all proximal phalanges of the fingers	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0010241	HP:0009597	Short proximal phalanx of the 2nd finger	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0010241	HP:0009226	Short proximal phalanx of the 5th finger	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional

Genes (7) :BMPR1B COL2A1 FGFR3 GDF5 IHH KIF15 MTOR

Diseases (7) :OMIM:616849 OMIM:271700 ORPHA:15 OMIM:201250 OMIM:607778 ORPHA:261323 OMIM:616638

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