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Online Mendelian Inheritance in Man
| Preferred Name | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V | |
| Synonyms |
HSAN V INSENSITIVITY TO PAIN, CONGENITAL HSAN5 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/608654 |
|
| altLabel |
HSAN V INSENSITIVITY TO PAIN, CONGENITAL HSAN5
|
|
| cui |
C0020075
|
|
| Gene Locus |
1p13.1
|
|
| Gene Symbol |
HSAN5 NGF NGFB
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001882 http://purl.bioontology.org/ontology/OMIM/MTHU045563 http://purl.bioontology.org/ontology/OMIM/MTHU001881 http://purl.bioontology.org/ontology/OMIM/MTHU001883 http://purl.bioontology.org/ontology/OMIM/MTHU046144 http://purl.bioontology.org/ontology/OMIM/MTHU001884 http://purl.bioontology.org/ontology/OMIM/MTHU001891 http://purl.bioontology.org/ontology/OMIM/MTHU001890 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU001887 http://purl.bioontology.org/ontology/OMIM/MTHU001889 http://purl.bioontology.org/ontology/OMIM/MTHU001888 http://purl.bioontology.org/ontology/OMIM/MTHU001894 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
608654
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
|
|
| Scope Statement |
Accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the nerve growth factor-beta gene (NGFB, 162030.0001) [MOLECULAR BASIS]
|
|
| tui |
T047
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |