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Metadata
ID DOID:0060641
Name endocrine-cerebro-osteodysplasia syndrome
Definition A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase.
https://www.ncbi.nlm.nih.gov/pubmed/24853502, https://www.ncbi.nlm.nih.gov/pubmed/19185282
Xrefs

ICD10CM:Q87.8

MIM:612651

ORDO:199332

Subsets

DO_rare_slim

Synonyms

ECO syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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