Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:focal dermal hypoplasia
go back to main search page
Accession:DOID:2120 term browser browse the term
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. (DO)
Synonyms:exact_synonym: DHOF;   FDH;   FODH;   Goltz syndrome;   Goltz's Syndrome;   Goltz-Gorlin syndrome;   Goltzs syndrome;   focal dermal hypoplasias
 primary_id: MESH:D005489
 alt_id: OMIM:305600
 xref: GARD:6457;   NCI:C84715;   OMIM:PS136500;   ORDO:2092
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
focal dermal hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Focal dermal hypoplasia
ClinVar Annotator: match by OMIM:305600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17546030, PMID:17546031, PMID:18325042, PMID:19309688, PMID:19586929, PMID:19863546, PMID:25741868 NCBI chr  X:15,035,569...15,048,440
Ensembl chr  X:15,035,569...15,048,440
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
Facial Ectodermal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by OMIM:227260 OMIM
ClinVar
PMID:8818454, PMID:14069095, PMID:20691403, PMID:21931173 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link
Focal Facial Dermal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by OMIM:614974 OMIM
ClinVar
PMID:16530710, PMID:23161670 NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      focal dermal hypoplasia 5
        Facial Ectodermal Dysplasia 2
        Focal Facial Dermal Dysplasia 1
        Focal Facial Dermal Dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              X-linked dominant disease 103
                focal dermal hypoplasia 5
                  Facial Ectodermal Dysplasia 2
                  Focal Facial Dermal Dysplasia 1
                  Focal Facial Dermal Dysplasia 4 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.