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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:frontonasal dysplasia
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Accession:DOID:0081044 term browser browse the term
Definition:A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. (DO)
Synonyms:exact_synonym: FND;   FNM;   frontonasal dysplasias;   frontonasal malformation;   frontorhiny;   median facial cleft syndrome
 primary_id: MESH:C538065
 alt_id: DOID:9002345
 xref: GARD:2392;   NCI:C129028;   OMIM:PS136760;   ORDO:391474
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
frontonasal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
JBrowse link
G Alx3 ALX homeobox 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Frontorhiny
CTD
ClinVar
PMID:17963218 PMID:19409524 PMID:25741868 NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18570229 NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193
JBrowse link
frontonasal dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO OMIM NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 OMIM
ClinVar
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM
ClinVar
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9745
      frontonasal dysplasia 6
        frontonasal dysplasia 1 1
        frontonasal dysplasia 2 1
        frontonasal dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        Congenital Abnormalities 6810
          Musculoskeletal Abnormalities 2818
            Craniofacial Abnormalities 2387
              frontonasal dysplasia 6
                frontonasal dysplasia 1 1
                frontonasal dysplasia 2 1
                frontonasal dysplasia 3 1
paths to the root