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: Adams-Oliver syndrome
Accession: DOID:0060227
browse the term
Definition: A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO)
Synonyms: exact_synonym: AOS; absence defect of limbs, scalp, and skull; aplasia cutis congenita with terminal transverse limb defects; aplasia cutis congenita, congenital heart defect, and frontonasal cysts; aplasia cutis of the scalp; congenital defect of skull and scalp; congenital scalp defect; congenital scalp defects with distal limb reduction anomalies; familial aplasia cutis congenita of the scalp; scalp and head syndrome; scalp defects with ectrodactyly
primary_id: MESH:C538225
xref: GARD:5739 ; OMIM:PS100300 ; ORDO:974
For additional species annotation, visit the
Alliance of Genome Resources .
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Arhgap31
Rho GTPase activating protein 31
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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Dll4
delta like canonical Notch ligand 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD ClinVar RGD
PMID:26299364 PMID:29924900 PMID:33899511
RGD:155663357
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Dock6
dedicator of cytokinesis 6
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:cds: ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD ClinVar RGD
PMID:21820096 PMID:24033266 PMID:25558065 PMID:25824905
RGD:155791566
NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Eogt
EGF domain specific O-linked N-acetylglucosamine transferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD ClinVar
PMID:23522784 PMID:25558065 PMID:25741868
NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome
CTD ClinVar
PMID:25741868
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Rbpj
recombination signal binding protein for immunoglobulin kappa J region
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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Arhgap31
Rho GTPase activating protein 31
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 1
OMIM ClinVar
PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29924900 More...
NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 1
ClinVar
PMID:25741868 PMID:26457590 PMID:29924900
NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 2
OMIM ClinVar
PMID:8849019 PMID:12955720 PMID:16199547 PMID:17159513 PMID:20301788 PMID:21820096 PMID:23522784 PMID:25558065 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 PMID:28884918 PMID:29924900 PMID:30111349 More...
NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 2
ClinVar
PMID:18593716 PMID:20981092 PMID:25741868 PMID:28492532 PMID:29641532 PMID:30582441 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Rbpj
recombination signal binding protein for immunoglobulin kappa J region
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 3
OMIM ClinVar
PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900
NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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Eogt
EGF domain specific O-linked N-acetylglucosamine transferase
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23522784 PMID:23860037 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29924900 PMID:31368252 PMID:34782754 More...
NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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Camsap1
calmodulin regulated spectrin-associated protein 1
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
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Card9
caspase recruitment domain family, member 9
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Dnlz
DNL-type zinc finger
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
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Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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Gpsm1
G-protein signaling modulator 1
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Kcnt1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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Lhx3
LIM homeobox 3
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Nacc2
NACC family member 2
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
OMIM ClinVar
PMID:1621771 PMID:9536098 PMID:15959515 PMID:16025100 PMID:16199547 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19597493 PMID:20007775 PMID:20981092 PMID:21457232 PMID:22307742 PMID:23040356 PMID:23578328 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:25132448 PMID:25194568 PMID:25260786 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26893459 PMID:27077170 PMID:27760138 PMID:27854218 PMID:27989580 PMID:28074886 PMID:28166811 PMID:28387797 PMID:28492532 PMID:28649221 PMID:28659821 PMID:28776427 PMID:28991257 PMID:29392406 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30115950 PMID:30511478 PMID:30582441 PMID:30609409 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32277046 PMID:32748548 PMID:33064175 PMID:33208564 PMID:33914609 PMID:33994118 PMID:34498425 PMID:35101336 PMID:35288444 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Qsox2
quiescin sulfhydryl oxidase 2
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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Sec16a
SEC16 homolog A, endoplasmic reticulum export factor
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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Tmem250
transmembrane protein 250
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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Ubac1
UBA domain containing 1
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 5
ClinVar
PMID:19597493 PMID:28492532
NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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Dll4
delta like canonical Notch ligand 4
ISO
ClinVar Annotator: match by term: Adams-Oliver syndrome 6
OMIM ClinVar
PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 PMID:32860008 More...
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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