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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/224690
http://purl.bioontology.org/ontology/OMIM/224690
|
|---|---|
| Preferred Name | MEIER-GORLIN SYNDROME 1 |
| Synonyms |
EAR, PATELLA, SHORT STATURE SYNDROME
MICROTIA, ABSENT PATELLAE, MICROGNATHIA SYNDROME
EPS
MEIER-GORLIN SYNDROME
MGORS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EAR, PATELLA, SHORT STATURE SYNDROME
MICROTIA, ABSENT PATELLAE, MICROGNATHIA SYNDROME
EPS
MEIER-GORLIN SYNDROME
MGORS1
|
|---|---|
| prefLabel | MEIER-GORLIN SYNDROME 1
|
| Gene Symbol |
ORC1L
ORC1
|
| Scope Statement | Genetic heterogeneity [MISCELLANEOUS]
Caused by mutation in the origin recognition complex, subunit 1, gene (ORC1, 601902.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 224690
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4552001
C1868684
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |