Disease: Spondyloenchondrodysplasia With Immune Dysregulation

Name
Spondyloenchondrodysplasia With Immune Dysregulation
Synonmys
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA , ROIFMAN IMMUNOSKELETAL SYNDROME , SPENCD
Classification
unclassified
Associated Genes
ACP5 (Withdrawn symbols: HPAP, TRAP )
Mouse Orthologs
Source
OMIM:607944 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models

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