Disease Aliases (25) | Absence defect of limbs, scalp, and skull Aos Aos1 Aplasia cutis congenita with terminal transverse limb defects Aplasia cutis congenita, congenital heart defect, and frontonasal cysts Arhgap31 adams-oliver syndrome Adams oliver syndrome Adams-oliver syndrome 1; aos1 Adams-oliver syndrome caused by mutation in arhgap31 Aplasia cutis of the scalp Congenital scalp defects with distal limb reduction anomalies Congenital absence of skin on scalp with limb-reduction anomaly Congenital defect of skull and scalp Congenital scalp defects with distal limb anomalies Familial aplasia cutis congenita of the scalp Limb Limb scalp and skull defects Limb, scalp and skull defects Scalp and head syndrome Scalp defect, congenital Scalp defects with ectrodactyly Type 2 aplasia cutis Scalp and skull defects |
Associated Genes (6) NCBI-RefSeq: DOCK6 (Dedicator of cytokinesis 6) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ARHGAP31 (Rho GTPase activating protein 31) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: DLL4 (Delta like canonical Notch ligand 4) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: NOTCH1 (Notch receptor 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RBPJ (Recombination signal binding protein for immunoglobulin kappa J region) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Adams-Oliver syndrome 1 | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |