GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Focal Dermal Hypoplasia  
Disease Aliases (22)

Dhof

Dermal hypoplasia, focal

Dermal hypoplasias, focal

Fdh

Fdh - focal dermal hypoplasia

Fodh

Fodh - focal dermal hypoplasia

Focal dermal hypoplasias

Focal dermal hypoplasia

Goltz syndrome

Goltz-gorlin syndrome

Goltz gorlin syndrome

Goltz's syndrome

Goltzs syndrome

Gorlin syndrome, goltz

Hypoplasia, focal dermal

Hypoplasias, focal dermal

Syndrome, goltz

Syndrome, goltz gorlin

Syndrome, goltz's

Syndrome, goltz-gorlin

Focal dermal hypoplasia; fdh

Associated Genes (1)
 

NCBI-RefSeq:  PORCN   (Porcupine O-acyltransferase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Focal dermal hypoplasia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations