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loading...| Preferred Name |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema |
|
| Synonyms |
OLEDAID |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C564538 |
|
| altLabel |
OLEDAID OL-EDA-ID Syndrome |
|
| cui |
C1845919 |
|
| HM |
D010022 D008209 D000081207 D040181 D004476 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D004476 http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D008209 |
|
| MDA |
20121105 |
|
| MeSH Frequency |
1 |
|
| MMR |
20190617 |
|
| notation |
C564538 |
|
| PI |
IMMUNOLOGIC DEFICIENCY SYNDROMES (2013-2019) |
|
| prefLabel |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema |
|
| SC |
3 |
|
| Scope Statement |
mutation in NEMO gene |
|
| TERMUI |
T824307 T824308 T000939898 |
|
| TH |
OMIM (2013) NLM (2017) |
|
| tui |
T047 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/300291 | OMIM | CUI | |
| http://identifiers.org/omim/300301 | REXO | LOOM | |
| http://identifiers.org/omim/300301 | GEXO | LOOM | |
| http://identifiers.org/omim/300301 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_300301 | CCO | LOOM | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564538 | RH-MESH | LOOM |