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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;   PORCN-RELATED CONDITION;   focal dermal hypoplasias
 primary_id: MESH:D005489
 alt_id: MIM: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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:305600
ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition
OMIM
CTD
MouseDO
ClinVar
PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 More... NCBI chr  X:14,285,864...14,298,481 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME ClinVar PMID:8658145 PMID:16199547 PMID:16301862 PMID:16419085 PMID:18830227 More... NCBI chr17:1,548,449...1,613,461 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      ectodermal dysplasia 549
        focal dermal hypoplasia 2
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              Genetic Skin Diseases 1889
                ectodermal dysplasia 549
                  focal dermal hypoplasia 2
paths to the root