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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

GARD:5721

MESH:D055673

NCI:C84531

OMIM:200990

SNOMEDCT_US_2023_03_01:715951007

UMLS_CUI:C0796147

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

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