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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/263750
http://purl.bioontology.org/ontology/OMIM/263750
|
|---|---|
| Preferred Name | MILLER SYNDROME |
| Synonyms |
POSTAXIAL ACROFACIAL DYSOSTOSIS
POADS
GENEE-WIEDEMANN SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
POSTAXIAL ACROFACIAL DYSOSTOSIS
POADS
GENEE-WIEDEMANN SYNDROME
|
|---|---|
| prefLabel | MILLER SYNDROME
|
| Gene Symbol |
DHODH
URA1
POADS
|
| Scope Statement | Caused by mutation in the dihydroorotate dehydrogenase gene (DHODH, 126064.0001) [MOLECULAR BASIS]
Most cases are sporadic [MISCELLANEOUS]
Autosomal recessive and dominant pedigrees described [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 263750
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0265257
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |