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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601039
http://purl.bioontology.org/ontology/OMIM/601039
|
|---|---|
| Preferred Name | ICHTHYOSIS-IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN |
| Synonyms |
ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN
|
|---|---|
| prefLabel | ICHTHYOSIS-IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN
|
| type | |
| Has manifestation | |
| tui | T047
|
| MIMTYPEMEANING | Other, mainly phenotypes with suspected mendelian basis
|
| notation | 601039
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1832858
|
| OMIM Entry Type | 0
|
| OMIM MimType Value | none
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |