Preferred Name |
Focal Dermal Hypoplasia |
|
Synonyms |
|
|
Definitions |
A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C84715 |
|
code |
C84715 |
|
definition |
A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations. |
|
label |
Focal Dermal Hypoplasia |
|
Preferred_Name |
Focal Dermal Hypoplasia |
|
prefixIRI |
NCIT:C84715 |
|
prefLabel |
Focal Dermal Hypoplasia |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0016395 |
|
subClassOf |
Create mapping