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: chromosome 15q26-qter deletion syndrome
Accession: DOID:0060397
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Definition: A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO)
Synonyms: exact_synonym: 15q26 deletion syndrome; Drayer Syndrome; distal 15q deletion syndrome; distal monosomy 15q; telomeric 15q deletion syndrome
primary_id: MESH:C567232
alt_id: OMIM:612626
xref: ORDO:1596
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Adamts17
ADAM metallopeptidase with thrombospondin type 1 motif, 17
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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Aldh1a3
aldehyde dehydrogenase 1 family, member A3
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
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Asb7
ankyrin repeat and SOCS box-containing 7
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282
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Cers3
ceramide synthase 3
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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Chsy1
chondroitin sulfate synthase 1
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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Igf1r
insulin-like growth factor 1 receptor
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Lins1
lines homolog 1
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
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Lrrc28
leucine rich repeat containing 28
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784
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Lrrk1
leucine-rich repeat kinase 1
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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Lysmd4
LysM domain containing 4
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,839,180...120,845,148
Ensembl chr 1:120,839,282...120,845,135
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Mef2a
myocyte enhancer factor 2a
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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Pgpep1l
pyroglutamyl-peptidase I-like
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407
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Synm
synemin
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652
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Ttc23
tetratricopeptide repeat domain 23
ISO
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome
ClinVar
PMID:31690835
NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
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