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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
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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;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal dermal hypoplasia
OMIM
CTD
ClinVar
PMID:17546030 PMID:17546031 PMID:18325042 PMID:19309688 PMID:19586929 More... NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:11457640 PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:12068298 PMID:16199547 PMID:19533801 PMID:19833601 PMID:21188540 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      ectodermal dysplasia 414
        focal dermal hypoplasia 4
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Skin Abnormalities 1055
              ectodermal dysplasia 414
                focal dermal hypoplasia 4
paths to the root