ZFIN Human Disease: alopecia, neurologic defects, and endocrinopathy syndrome

OBO ID: DOID:0112244

Term Name:	alopecia, neurologic defects, and endocrinopathy syndrome		Search Ontology:
Synonyms:	alopecia-progressive neurological defect-endocrinopathy syndrome ANE syndrome ANES
Definition:	A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. https://pubmed.ncbi.nlm.nih.gov/18439547/
References:	MESH:C567425 OMIM:612079 ORDO:157954
Ontology:	Human Disease ( DOID:0112244 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER alopecia, neurologic defects, and endocrinopathy syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RBM28	rbm28	?Alopecia, neurologic defects, and endocrinopathy syndrome	612079

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None