Smith-McCort dysplasia
osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q
Press Enter · cited answer in seconds
0 sources
Smith-McCort dysplasia
Summary
Smith-McCort dysplasia is a rare disease[1]. It is known by 8 alternative names across languages and contexts.[2]
Key Facts
- Smith-McCort dysplasia's instance of is recorded as rare disease[3].
- Smith-McCort dysplasia's instance of is recorded as class of disease[4].
- Smith-McCort dysplasia is a type of spondyloepimetaphyseal dysplasia[5].
- Smith-McCort dysplasia is a type of Dyggve–Melchior–Clausen syndrome[6].
- Smith-McCort dysplasia's genetic association is recorded as DYM[7].
- Smith-McCort dysplasia's genetic association is recorded as RAB33B[8].
- Smith-McCort dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060247[9].
- Smith-McCort dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0060247[10].
- Smith-McCort dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_178355[11].
- Smith-McCort dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
Why It Matters
Smith-McCort dysplasia is known by 8 alternative names across languages and contexts.[2]