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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609640
http://purl.bioontology.org/ontology/OMIM/609640
|
|---|---|
| Preferred Name | FRIAS SYNDROME |
| Synonyms |
CHROMOSOME 14q22 DELETION SYNDROME
GROWTH DEFICIENCY, FACIAL ANOMALIES, AND BRACHYDACTYLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHROMOSOME 14q22 DELETION SYNDROME
GROWTH DEFICIENCY, FACIAL ANOMALIES, AND BRACHYDACTYLY
|
|---|---|
| prefLabel | FRIAS SYNDROME
|
| Gene Symbol |
FRIASS
C14DELq22
DEL14q22
|
| Scope Statement | Contiguous gene deletion syndrome [MISCELLANEOUS]
Caused by deletion (4.06 Mb) of chromosome 14q22.1-q22.3 [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q22.1-q22.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 609640
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1864825
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |