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: Cornelia de Lange syndrome 1
Accession: DOID:0080505
browse the term
Definition: A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. (DO)
Synonyms: exact_synonym: CDLS1; NIPBL-RELATED CONDITION
primary_id: OMIM:122470
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Brd4
bromodomain containing 4
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
PMID:25741868
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Cplane1
ciliogenesis and planar polarity effector complex subunit 1
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
PMID:28492532
NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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Hdac8
histone deacetylase 8
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
PMID:25741868 PMID:26671848 PMID:30158690
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
PMID:25574841
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Nipbl
NIPBL, cohesin loading factor
ISO ISS
OMIM:122470 ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar Annotator: match by term: NIPBL-related condition
OMIM MouseDO ClinVar
PMID:9536098 PMID:11391654 PMID:15146185 PMID:15146186 PMID:15318302 PMID:15591270 PMID:16100726 PMID:16199547 PMID:16236812 PMID:17106445 PMID:17221863 PMID:17576681 PMID:17661813 PMID:18414213 PMID:19763162 PMID:20301283 PMID:20358602 PMID:20583156 PMID:20824775 PMID:22581668 PMID:22857006 PMID:23254390 PMID:23304577 PMID:23313159 PMID:23505322 PMID:24038889 PMID:24145515 PMID:24218399 PMID:24635725 PMID:24689074 PMID:24759409 PMID:24874887 PMID:24918291 PMID:25125236 PMID:25447906 PMID:25574841 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25991456 PMID:25996639 PMID:26467025 PMID:26597256 PMID:26701315 PMID:26725122 PMID:26925417 PMID:26938784 PMID:28425213 PMID:28492532 PMID:28588001 PMID:29159939 PMID:29620724 PMID:29764576 PMID:29995837 PMID:30029678 PMID:30057591 PMID:30158690 PMID:30606125 PMID:30614194 PMID:30692697 PMID:31019026 PMID:31157197 PMID:31337854 PMID:32005694 PMID:32033219 PMID:32074972 PMID:32333414 PMID:34008892 PMID:34411415 PMID:34717699 PMID:35476527 PMID:35769956 More...
NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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Nup155
nucleoporin 155
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
PMID:28492532
NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
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Smc1a
structural maintenance of chromosomes 1A
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
PMID:28492532
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Smc3
structural maintenance of chromosomes 3
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
NCBI chr 1:252,601,422...252,644,522
Ensembl chr 1:252,601,753...252,644,522
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Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
ClinVar
PMID:25574841
NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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