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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/614871
http://purl.bioontology.org/ontology/OMIM/614871
|
|---|---|
| Preferred Name | PEROXISOME BIOGENESIS DISORDER 6B |
| Synonyms |
PBD6B
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PBD6B
|
|---|---|
| prefLabel | PEROXISOME BIOGENESIS DISORDER 6B
|
| Gene Symbol |
NALD
PBD6A
PEX10
PBD6B
|
| notation | 614871
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Mild disorder [MISCELLANEOUS]
Caused by mutation in the peroxisome biogenesis factor 10 gene (PEX10, 602859.0002) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Four unrelated patients have been reported (last curated January 2015) [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 1p36.32
|
| tui | T047
|
| cui | C3553948
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