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Medical Subject Headings
Last uploaded:
August 28, 2024
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| 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
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|
| cui |
C4551623
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|
| HM |
D004535
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|
| Inverse of RB |
0
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|
| Mapped to | ||
| MDA |
20121105
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|
| MeSH Frequency |
3
|
|
| notation |
C562625
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|
| prefLabel |
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
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|
| SC |
3
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|
| Scope Statement |
PROM mutation in COL1A1
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|
| TERMUI |
T824595 T801132 T801133 T827458 T824596 T824594
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|
| TH |
OMIM (2013)
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|
| tui |
T047
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| 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 |