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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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal dermal hypoplasia
OMIM:305600		 OMIM
CTD
ClinVar
MouseDO		 PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 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:16301862 PMID:16419085 PMID:24728327 More... 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:19533801 PMID:21188540 PMID:25741868 PMID:28492532 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 21112
    syndrome 10710
      ectodermal dysplasia 535
        focal dermal hypoplasia 4
Path 2
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Signs and Symptoms 10731
        Neurologic Manifestations 9971
          sensory system disease 6867
            skin disease 3899
              Genetic Skin Diseases 1836
                ectodermal dysplasia 535
                  focal dermal hypoplasia 4
paths to the root