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loading...| Preferred Name |
Menkes' syndrome |
|
| Synonyms |
steely hair syndrome kinky hair syndrome |
|
| Definitions |
X-linked recessive abnormality in copper absorption marked by severe cerebral degeneration and arterial changes resulting in death in infancy and by sparse, brittle scalp hair. |
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| ID |
http://purl.bioontology.org/ontology/CSP/1849-5365 |
|
| altLabel |
steely hair syndrome kinky hair syndrome |
|
| cui |
C0022716 |
|
| definition |
X-linked recessive abnormality in copper absorption marked by severe cerebral degeneration and arterial changes resulting in death in infancy and by sparse, brittle scalp hair. |
|
| DID |
1849-5365 |
|
| Inverse of RB |
http://purl.bioontology.org/ontology/CSP/4000-0215 |
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| Inverse of RO | ||
| notation |
1849-5365 |
|
| prefLabel |
Menkes' syndrome |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/CSP/4000-0215 |
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