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: Au-Kline Syndrome
Accession: DOID:9003837
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Definition: AUKS is caused by heterozygous mutation in the HNRNPK gene on chromosome 9q21. (OMIM)
Synonyms: exact_synonym: AUKS; Au-Kline-Okamoto syndrome; Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation; HNRNPK-RELATED CONDITION; KABUKI-LIKE SYNDROME; Okamoto Syndrome
primary_id: MESH:C565736 ; MIM:616580
alt_id: DOID:9002401
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Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Au-Kline syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:75,159,635...75,267,094
Ensembl chr X:71,094,202...71,198,354
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Hnrnpk
heterogeneous nuclear ribonucleoprotein K
ISO
ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome
OMIM ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 PMID:28374925 PMID:28492532 PMID:28771707 PMID:29904177 PMID:30793470 PMID:30998304 PMID:32222014 PMID:36130591 PMID:39033378 More...
NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,262,998...6,274,997
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Kabuki-like syndrome
ClinVar
PMID:25741868
NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Okamoto syndrome
ClinVar
PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:10878807 PMID:11331612 PMID:11331613 PMID:12000816 PMID:12097293 PMID:12393546 PMID:12414898 PMID:12844285 PMID:12944410 PMID:15574766 PMID:15642680 PMID:16452184 PMID:16585181 PMID:17700531 PMID:17898043 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19602254 PMID:19906784 PMID:23772956 PMID:25741868 PMID:26845104 PMID:26846855 PMID:27517496 PMID:28235946 PMID:28492532 PMID:28873162 PMID:30890701 PMID:31980715 PMID:34628056 PMID:35668420 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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