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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617183
http://purl.bioontology.org/ontology/OMIM/617183
|
|---|---|
| Preferred Name | HAREL-YOON SYNDROME |
| Synonyms |
HAYOS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HAYOS
|
|---|---|
| prefLabel | HAREL-YOON SYNDROME
|
| Gene Symbol |
HAYOS
PHRINL
ATAD3A
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the ATPase family, AAA domain-containing, member 3A gene (ATAD3A, 612316.0001) [MOLECULAR BASIS]
Five unrelated patients with de novo heterozygous mutations have been reported [MISCELLANEOUS]
Two sibs (family A) with a homozygous mutation have been reported (last curated November 2016) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p36.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617183
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310677
|
| 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 |