| Metadata | |
|---|---|
| ID | DOID:9250 |
| Name | acrocallosal syndrome |
| Definition | A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. http://en.wikipedia.org/wiki/Acrocallosal_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:715951007 |
| SKOS |
exactMatch MESH:D055673 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ACLS [EXACT] SCHINZEL ACROCALLOSAL SYNDROME [EXACT] Schinzel syndrome 1 [EXACT] |
| Parent Relationships |
is_a syndrome is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some polygenic inheritance has material basis in some digenic inheritance has phenotype some Agenesis of corpus callosum |