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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:Frank-Ter Haar syndrome
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Accession:DOID:0111789 term browser browse the term
Definition:An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1. (DO)
Synonyms:exact_synonym: BORRONE DERMATOCARDIOSKELETAL SYNDROME;   Borrone Di Rocco Crovato Syndrome;   FTHS;   Melnick-Needles syndrome, autosomal recessive;   Ter Haar Syndrome;   megalocornea, multiple skeletal anomalies, and developmental delay
 primary_id: MESH:C537274
 alt_id: DOID:9001659;   MESH:C536577;   OMIM:249420
 xref: GARD:5138;   ORDO:137834
For additional species annotation, visit the Alliance of Genome Resources.


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Frank-Ter Haar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by OMIM:249420
ClinVar Annotator: match by term: Frank Ter Haar syndrome
ClinVar Annotator: match by term: Frank-Ter Haar syndrome
OMIM
ClinVar
PMID:7158646, PMID:8484415, PMID:15523657, PMID:20137777, PMID:22509100, PMID:24105366, PMID:25741868, PMID:28492532, PMID:29276006 NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Frank-Ter Haar syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Musculoskeletal Abnormalities 1755
            Congenital Limb Deformities 503
              Congenital Upper Extremity Deformities 87
                Congenital Hand Deformities 71
                  otopalatodigital syndrome spectrum disorder 4
                    Frank-Ter Haar syndrome 1
paths to the root

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