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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/166750
http://purl.bioontology.org/ontology/OMIM/166750
|
|---|---|
| Preferred Name | OTODENTAL DYSPLASIA |
| Synonyms |
OTODENTAL SYNDROME
OCULOOTODENTAL SYNDROME
CHROMOSOME 11q13 DELETION SYNDROME
OTODENTAL SYNDROME WITH COLOBOMA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OTODENTAL SYNDROME
OCULOOTODENTAL SYNDROME
CHROMOSOME 11q13 DELETION SYNDROME
OTODENTAL SYNDROME WITH COLOBOMA
|
|---|---|
| prefLabel | OTODENTAL DYSPLASIA
|
| Gene Symbol |
C11DELq13
OTDD
DEL11q13
|
| Scope Statement | Contiguous gene deletion syndrome caused by microdeletion (43-490kb) of chromosome 11q13 [MOLECULAR BASIS]
Coloboma is associated with larger microdeletion (490kb) of 11q13 [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 166750
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2750325
C1833693
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |