Welcome
{{ username}}
Message Center
{{ messageCount }} Messages
Go to Message Center
Watched Genes
{{$index + 1}}.
{{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Modify Subscription
Unsubscribe
Watched Ontology Terms
{{$index + 1}}.
{{ watchedTerm.term }} ({{watchedTerm.accId}})
Modify Subscription
Unsubscribe
{{gene.symbol}}:
{{ gene.description }}
×
Save List to My RGD
Create Name:
Description:
You must be logged in to use this feature
{{ loginError }}
{{ watchLinkText }}
Select categories you would like to watch. Updates to this gene will be sent to {{ username }}
{{geneWatchAttr}}
Analyze
Gene
Strain
QTL
List
×
Gene Annotator (Functional Annotation)
unavailable
Gene Annotator (Annotation Distribution)
unavailable
Variant Visualizer (Genomic Variants)
unavailble
Variant Visualizer (Genomic Variants)
unavailable
Gene Annotator (Functional Annotation)
Gene Annotator (Annotation Distribution)
Variant Visualizer (Genomic Variants)
InterViewer (Protein-Protein Interactions)
unavailable
Gviewer (Genome Viewer)
unavailable
Variant Visualizer (Damaging Variants) unavailble
Variant Visualizer (Damaging Variants)
unavailable
InterViewer (Protein-Protein Interactions)
GViewer (Genome Viewer)
Variant Visualizer (Damaging Variants)
Gene Annotator (Annotation Comparison)
unavailable
OLGA (Gene List Generator)
unavailable
Gene Annotator (Annotation Comparison)
OLGA (Gene List Generator)
Excel (Download)
MOET (Multi-Ontology Enrichement)
unavailable
GOLF (Gene-Ortholog Location Finder)
unavailable
MOET (Multi-Ontology Enrichement)
GOLF (Gene-Ortholog Location Finder)
x
Send Message
x
Send us a Message
Your email
Message
Send
Submit Data
|
Help
|
Video Tutorials
|
News
|
Publications
|
Download
|
REST API
|
Citing RGD
|
Contact
Home
Search RGD
Grant Resources
Citing RGD
About Us
Contact Us
Data
Genes
Variants
Community Projects
QTLs
Strains
Markers
Genome Information
Ontologies
Cell Lines
References
Download
Submit Data
Analysis & Visualization
OntoMate (Literature Search)
JBrowse (Genome Browser)
Synteny Browser (VCMap)
Variant Visualizer
Multi-Ontology Enrichment (MOET)
Gene-Ortholog Location Finder (GOLF)
InterViewer (Protein-Protein Interactions)
PhenoMiner (Quatitative Phenotypes)
Gene Annotator
OLGA (Gene List Generator)
AllianceMine
GViewer (Genome Viewer)
Diseases
Aging & Age-Related Disease
Cancer & Neoplastic Disease
Cardiovascular Disease
Coronavirus Disease
Developmental Disease
Diabetes
Hematologic Disease
Immune & Inflammatory Disease
Infectious Disease
Liver Disease
Neurological Disease
Obesity & Metabolic Syndrome
Renal Disease
Respiratory Disease
Sensory Organ Disease
Phenotypes & Models
Find Models
Genetic Models
Autism Models
Rat PhenoMiner (Quantitative Phenotypes)
Chinchilla PhenoMiner
Expected Ranges (Quantitative Phenotype)
PhenoMiner Term Comparison
Hybrid Rat Diversity Panel
Phenotypes
Phenotypes in Other Animal Models
Animal Husbandry
Strain Medical Records
Phylogenetics
Strain Availability
Calendar
Rats 101
Submissions
Photo Archive
Pathways
Community
Rat Community Forum
Directory of Rat Laboratories
Video Tutorials
News
RGD Publications
RGD Presentations Archive
Nomenclature Guidelines
Resource Links
Laboratory Resources
Employment Resources
Advanced Search (OLGA)
HUMAN PHENOTYPE - ANNOTATIONS
{{ watchLinkText }}
The Human Phenotype Ontology (HPO) is downloaded weekly from
http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo
. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at
http://www.human-phenotype-ontology.org/
.
Term:
Contracture of the proximal interphalangeal joint of the 2nd finger
go back to main search page
Accession:
HP:0009540
browse the term
Definition:
Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
Synonyms:
exact_synonym:
Camptodactyly of 2nd finger; Camptodactyly of index finger; Camptodactyly of second finger
xref:
UMLS:C4021451
show annotations for term's descendants Sort by:
symbol
object name
position
reference
evidence
↑ asc
↓ desc
Rat (0)
Mouse (0)
Human (5)
Chinchilla (0)
Bonobo (0)
Dog (0)
Squirrel (0)
Pig (0)
Green Monkey (0)
Naked Mole-rat (0)
All
Genes (5)
Contracture of the proximal interphalangeal joint of the 2nd finger
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
COL1A1
collagen type I alpha 1 chain
IAGP
HPO
MIM:130060
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
G
LFNG
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
IAGP
HPO
MIM:609813
NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
G
NEDD4L
NEDD4 like E3 ubiquitin protein ligase
IAGP
HPO
MIM:617201
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
G
PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
IAGP
HPO
MIM:612394
NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
G
RPL10
ribosomal protein L10
IAGP
HPO
MIM:300998
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
Term paths to the root
one shortest
all shortest
one longest
all longest
one shortest and longest
all
Path 1
Term
Annotations
Human phenotype
73834
Phenotypic abnormality
73529
Abnormality of limbs
3143
Abnormality of the upper limb
2079
Abnormality of the hand
1903
Abnormal finger morphology
1349
Abnormal 2nd finger morphology
43
Flexion contracture of the 2nd finger
5
Contracture of the proximal interphalangeal joint of the 2nd finger
5
Path 2
Term
Annotations
Human phenotype
73834
Phenotypic abnormality
73529
Abnormality of the musculoskeletal system
9723
Abnormality of the skeletal system
8604
Abnormal skeletal morphology
8021
Abnormal tendon morphology
1168
Joint contracture
1110
Flexion contracture
1082
Limb joint contracture
687
Upper-limb joint contracture
571
Joint contracture of the hand
500
Finger joint contracture
273
Flexion contracture of finger
270
Interphalangeal joint contracture of finger
246
Camptodactyly of finger
232
Contracture of the proximal interphalangeal joint of the 2nd finger
5