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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:
Neurofibroma by anatomical location
go back to main search page
Accession:
HP:0034761
browse the term
Definition:
Neurofibroma categorized according to the anatomical site of origin.
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 (1)
Variants (4)
Spinal neurofibroma
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NF1
neurofibromin 1
IAGP
ClinVar Annotator: match by term: Spinal neurofibromas
ClinVar
HPO
MIM:162200
MIM:162210
ORPHA:363700
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
Subcutaneous neurofibroma
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NF1
neurofibromin 1
IAGP
ClinVar Annotator: match by term: Subcutaneous neurofibroma
ClinVar
HPO
PMID:8837715
PMID:9180088
PMID:10543400
PMID:10678181
PMID:10712197
PMID:14722917
PMID:16479075
PMID:16835897
PMID:16941471
PMID:16944272
PMID:17209131
PMID:17551851
PMID:17914445
PMID:21354044
PMID:23460398
PMID:23668869
PMID:23913538
PMID:25074460
PMID:25240281
PMID:25325900
PMID:25741868
PMID:26467025
PMID:26969325
PMID:27069254
PMID:27074763
PMID:27838393
PMID:28492532
PMID:29872168
PMID:30530636
PMID:31370276
PMID:31533651
PMID:31533797
PMID:31717729
PMID:36988593
More...
ORPHA:363700
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
Symmetric spinal nerve root neurofibromas
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
NF1
neurofibromin 1
IAGP
HPO
MIM:162210
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
Term paths to the root
one shortest
all shortest
one longest
all longest
one shortest and longest
all
Path 1
Term
Annotations
Human phenotype
87543
Phenotypic abnormality
87122
Abnormality of the integument
7387
Abnormality of the skin
6698
Neoplasm of the skin
2042
Neurofibroma
20
Neurofibroma by anatomical location
1
Cardiac neurofibroma
0
Gastric neurofibroma
0
Palmar neurofibroma
0
Paraspinal neurofibroma
0
Renal neurofibroma
0
Spinal neurofibroma
+
1
Subcutaneous neurofibroma
1
Tongue neurofibroma
0
Path 2
Term
Annotations
Human phenotype
87543
Phenotypic abnormality
87122
Neoplasm
16355
Neoplasm by histology
2121
Sarcoma
207
Soft tissue sarcoma
133
Fibroma
74
Neurofibroma
20
Neurofibroma by anatomical location
1
Cardiac neurofibroma
0
Gastric neurofibroma
0
Palmar neurofibroma
0
Paraspinal neurofibroma
0
Renal neurofibroma
0
Spinal neurofibroma
+
1
Subcutaneous neurofibroma
1
Tongue neurofibroma
0