Preferred Name |
focal dermal hypoplasia |
|
Synonyms |
|
|
Definitions |
A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. |
|
ID |
http://purl.obolibrary.org/obo/DOID_2120 |
|
definition |
A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. |
|
imported from | ||
label |
focal dermal hypoplasia |
|
prefixIRI |
DOID:2120 |
|
prefLabel |
focal dermal hypoplasia |
|
subClassOf |
Create mapping