loading...| Preferred Name |
Dyggve-Melchior-Clausen disease |
| Synonyms |
DMC disease |
| Definitions |
A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111167 |
| database_cross_reference |
GARD:6295 OMIM:223800 |
| definition |
A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. |
| disease has location | |
| has exact synonym |
DMC disease pseudo-Morquio disease type I |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111167 |
| in_subset | |
| label |
Dyggve-Melchior-Clausen disease |
| notation |
DOID:0111167 |
| prefLabel |
Dyggve-Melchior-Clausen disease |
| subClassOf |