Enlargement of the ankles - Ontology Report - Rat Genome Database

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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:	Enlargement of the ankles	go back to main search page
Accession:	HP:0003029	browse the term
Synonyms:	xref:	UMLS:C1838664

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Rat (0) Mouse (0) Human (7) Chinchilla (0) Bonobo (0) Dog (0) Squirrel (0) Pig (0) Green Monkey (0) Naked Mole-rat (0) All
Genes (7)

Enlargement of the ankles

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 5

OMIM:300009 OMIM:300554

NCBI chr X:49,922,596...50,099,230
Ensembl chr X:49,922,596...50,099,235

G

cytochrome P450 family 27 subfamily B member 1

OMIM:264700 ORPHA:289157

NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986

G

cytochrome P450 family 2 subfamily R member 1

OMIM:600081 ORPHA:289157

NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231

G

isocitrate dehydrogenase (NADP(+)) 1

ORPHA:99646

NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074

G

myosin heavy chain 7

ORPHA:437572

NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660

G

solute carrier family 34 member 3

OMIM:241530

NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555

G

vitamin D receptor

OMIM:277440

NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048

Term paths to the root

Path 1
Term	Annotations
Human phenotype	14724
Phenotypic abnormality	14721
Abnormality of limbs	2350
Abnormality of the lower limb	1734
Abnormality of lower limb joint	672
Abnormality of the ankles	163
Enlargement of the ankles	7
Path 2
Term	Annotations
Human phenotype	14724
Phenotypic abnormality	14721
Abnormality of the musculoskeletal system	4009
Abnormality of the skeletal system	3324
Abnormal skeletal morphology	3203
Abnormal joint morphology	1189
Abnormality of lower limb joint	672
Abnormality of the ankles	163
Enlargement of the ankles	7

paths to the root