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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619027
http://purl.bioontology.org/ontology/OMIM/619027
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE |
| Synonyms |
SPG83
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPG83
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
SPG83
HPDL
NEDSWMA
|
| Scope Statement | Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase-like gene (HPDL, 618994.0006) [MOLECULAR BASIS]
Onset usually in the second decade [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p34.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619027
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5436637
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |