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: Wittwer Syndrome
Accession: DOID:9001308
browse the term
Synonyms: exact_synonym: X-Linked Mental Retardation Type Wittwer; X-linked mental retardation syndrome, Wittwer type
primary_id: MESH:C536737 ; MESH:C536760
G
Cplx1
complexin 1
ISO
ClinVar Annotator: match by term: WITTWER SYNDROME
ClinVar
PMID:25741868 PMID:28422131 PMID:28492532
NCBI chr14:1,329,073...1,360,781
Ensembl chr14:1,329,032...1,360,769
G
Ctbp1
C-terminal binding protein 1
ISO
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:81,679,956...81,707,331
Ensembl chr14:81,679,765...81,707,554
G
Fgfrl1
fibroblast growth factor receptor-like 1
ISO
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752
G
Letm1
leucine zipper and EF-hand containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:81,167,268...81,206,776
Ensembl chr14:81,162,309...81,209,459
G
Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 PMID:30345613 More...
NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027
G
Nuf2
NUF2 component of NDC80 kinetochore complex
ISO
ClinVar Annotator: match by term: Wittwer syndrome
ClinVar
NCBI chr13:84,226,448...84,290,957
Ensembl chr13:84,226,509...84,255,598
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all