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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/222448
http://purl.bioontology.org/ontology/OMIM/222448
|
|---|---|
| Preferred Name | DONNAI-BARROW SYNDROME |
| Synonyms |
DBS
FOAR
DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA
DBS/FOAR SYNDROME
FACIOOCULOACOUSTICORENAL SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DBS
FOAR
DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA
DBS/FOAR SYNDROME
FACIOOCULOACOUSTICORENAL SYNDROME
|
|---|---|
| prefLabel | DONNAI-BARROW SYNDROME
|
| Gene Symbol |
DBS
LRP2
|
| Scope Statement | Caused by mutation in the low density lipoprotein receptor-related protein 2 gene (LRP2, 600073.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q24-q31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 222448
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1857277
|
| Moved from | 227290
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |