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Disease Ontology Term: alopecia, neurologic defects, and endocrinopathy syndrome

DO ID
DOID:0112244
Description
A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in RBM28 on chromosome 7q32.1.
Synonyms
alopecia-progressive neurological defect-endocrinopathy syndrome, ANES, ANE syndrome
View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources

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Annotations

Manually Curated

There are no manually curated annotations for alopecia, neurologic defects, and endocrinopathy syndrome.

High-throughput

There are no high-throughput annotations for alopecia, neurologic defects, and endocrinopathy syndrome.

Computational

There are no computational annotations for alopecia, neurologic defects, and endocrinopathy syndrome.