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loading...| Preferred Name |
Focal Dermal Hypoplasia [Disease/Finding] |
|
| Synonyms |
Goltz Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001264 |
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| altLabel |
Goltz Syndrome Dermal Hypoplasia, Focal Goltz's Syndrome Focal Dermal Hypoplasia Goltz-Gorlin Syndrome Goltz Gorlin Syndrome |
|
| cui |
C0016395 |
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| MESH DEFINITION |
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. |
|
| MESH DUI |
D005489 |
|
| MeSH name |
Focal Dermal Hypoplasia |
|
| MESH UI |
M0008655 |
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| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001264 |
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| NUI |
N0000001264 |
|
| prefLabel |
Focal Dermal Hypoplasia [Disease/Finding] |
|
| SNOMED CID |
2298005 205573006 |
|
| tui |
T047 |
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| subClassOf |
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