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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:Larsen-like syndrome B3GAT3 type
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Accession:DOID:0080575 term browser browse the term
Definition:A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: JDSCD;   Larsen syndrome, recessive;   Larsen syndrome, recessive type;   autosomal recessive Larsen syndrome;   multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects;   multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;   multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
 primary_id: MESH:C537874
 alt_id: OMIM:245600
 xref: ORDO:284139
For additional species annotation, visit the Alliance of Genome Resources.


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Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
OMIM
ClinVar
PMID:21763480, PMID:24668659, PMID:25326635, PMID:25741868, PMID:28492532, PMID:31438591 NCBI chr 1:225,120,061...225,126,579
Ensembl chr 1:225,120,061...225,126,579
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:1221956, PMID:1640425, PMID:15211654, PMID:18158310, PMID:23956117, PMID:24755949, PMID:25741868, PMID:26940150 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: LARSEN SYNDROME, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      congenital heart disease 1074
        Larsen-like syndrome B3GAT3 type 4
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                Larsen Syndromes 5
                  Larsen-Like Syndromes 4
                    Larsen-like syndrome B3GAT3 type 4
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.