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HUMAN PHENOTYPE - ANNOTATIONS
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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:
Palmoplantar cutis gyrata
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Accession:
HP:0007469
browse the term
Definition:
Cutis gyrata of palms and soles.
Synonyms:
exact_synonym:
Cutis gyrata of palms and soles
xref:
UMLS:C1851797
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Human (2)
Chinchilla (0)
Bonobo (0)
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Squirrel (0)
Pig (0)
Green Monkey (0)
Naked Mole-rat (0)
All
Genes (2)
Palmoplantar cutis gyrata
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
B4GALT7
beta-1,4-galactosyltransferase 7
IAGP
HPO
MIM:130070
ORPHA:75496
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
G
FGFR2
fibroblast growth factor receptor 2
IAGP
HPO
ORPHA:1555
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
Term paths to the root
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Path 1
Term
Annotations
Human phenotype
73980
Phenotypic abnormality
73674
Abnormality of limbs
3147
Abnormality of the lower limb
2184
Abnormal foot morphology
1564
Abnormality of the plantar skin of foot
177
Palmoplantar cutis gyrata
2
Path 2
Term
Annotations
Human phenotype
73980
Phenotypic abnormality
73674
Abnormality of the integument
6114
Abnormality of the skin
5442
Abnormal skin morphology
2573
Regional abnormality of skin
549
Abnormal dermatoglyphics
316
Palmoplantar cutis gyrata
2