loading...| Preferred Name |
Focal dermal hypoplasia |
|
| Synonyms |
Syndrome de Goltz-Gorlin Goltz-Gorlin syndrome |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_2004 |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
Syndrome de Goltz-Gorlin Goltz-Gorlin syndrome Syndrome de Goltz Síndrome de Goltz Goltz, síndrome de Goltz-Syndrom Goltz syndrome Sindrome di Goltz Hipoplasia cutis focal Síndrome de Goltz |
|
| id_Medline | ||
| id_MeSH |
D005489 |
|
| id_MIM |
305600 |
|
| id_OMS |
Q82.8 |
|
| id_Orpha |
2092 |
|
| id_SNOMEDCT |
205573006 2298005 |
|
| id_UMLS |
C0016395 |
|
| inheritance |
X-linked dominant Dominant lié à l'X X-linked dominant Dominante ligado al X Dominante legata all'X Ligado ao X dominante X-chromosomal-dominant |
|
| patType |
malformation syndrome |
|
| prefixIRI |
hrdo:pat_id_2004 |
|
| prefLabel |
Hipoplasia dérmica focal Hypoplasie dermique en aires Ipoplasia focale del derma Focal dermal hypoplasia Hipoplasia dérmica focal Hypoplasie, fokale dermale |
|
| prevalence |
<1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 |
|
| subClassOf |