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loading...| Preferred Name |
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant |
|
| Synonyms |
Arthrochalasis Multiplex Congenita Ehlers-Danlos Syndrome, Arthrochalasia Type EDS VII, Mutant Procollagen Type EDS7A EDS VIIA |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C562625 |
|
| altLabel |
Arthrochalasis Multiplex Congenita Ehlers-Danlos Syndrome, Arthrochalasia Type EDS VII, Mutant Procollagen Type EDS7A EDS VIIA |
|
| cui |
C4551623 |
|
| HM |
D004535 |
|
| Inverse of RB |
0 |
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| Mapped to | ||
| MDA |
20121105 |
|
| MeSH Frequency |
3 |
|
| notation |
C562625 |
|
| prefLabel |
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant |
|
| SC |
3 |
|
| Scope Statement |
PROM mutation in COL1A1 |
|
| TERMUI |
T824595 T801132 T801133 T827458 T824596 T824594 |
|
| TH |
OMIM (2013) |
|
| tui |
T047 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/120150 | OMIM | CUI | |
| http://purl.bioontology.org/ontology/OMIM/130060 | OMIM | CUI | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562625 | RH-MESH | LOOM |