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Disease Ontology Browser
Miles-Carpenter syndrome (DOID:0060815)
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Synonyms: MCS; mental retardation, X-linked, syndromic 4; mental retardation, X-linked, with congenital contractures and low fingertip arches; Miles-Carpenter syndrome; MRXS4; X-linked intellectual disability, Miles-Carpenter type
Alt IDs: OMIM:314580, ORDO:85283, UMLS_CUI:C1839735
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory