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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612840
http://purl.bioontology.org/ontology/OMIM/612840
|
|---|---|
| Preferred Name | LEUKOCYTE ADHESION DEFICIENCY, TYPE III |
| Synonyms |
IADD
LEUKOCYTE ADHESION DEFICIENCY 3
LEUKOCYTE ADHESION DEFICIENCY 1 VARIANT
INTEGRIN ACTIVATION DEFICIENCY DISEASE
LAD1V
LAD3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
IADD
LEUKOCYTE ADHESION DEFICIENCY 3
LEUKOCYTE ADHESION DEFICIENCY 1 VARIANT
INTEGRIN ACTIVATION DEFICIENCY DISEASE
LAD1V
LAD3
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|
|---|---|
| prefLabel | LEUKOCYTE ADHESION DEFICIENCY, TYPE III
|
| Gene Symbol |
KIND3
FERMT3
URP2
MIG2B
|
| Scope Statement | Can be treated by bone marrow transplantation [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Delayed separation of umbilical cord [MISCELLANEOUS]
Caused by mutation in the FERM domain-containing kindlin 3 gene (FERMT3, 607901.0001) [MOLECULAR BASIS]
Delayed wound healing [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612840
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2748536
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |