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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616652
http://purl.bioontology.org/ontology/OMIM/616652
|
|---|---|
| Preferred Name | YUAN-HAREL-LUPSKI SYNDROME |
| Synonyms |
YUHAL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | YUHAL
|
|---|---|
| prefLabel | YUAN-HAREL-LUPSKI SYNDROME
|
| Gene Symbol | YUHAL
|
| Scope Statement | Onset at birth [MISCELLANEOUS]
Genomic duplications occur de novo [MISCELLANEOUS]
PMP22 (601097) and RAI1 (607642) are included in smallest region of overlap [MISCELLANEOUS]
Caused by contiguous gene duplication of 3.2 to 19.8 Mb on chromosome 17p12-p11.2 [MOLECULAR BASIS]
Onset of peripheral neuropathy in the first decade [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17p12-p11.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616652
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225255
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |