Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/612079
http://purl.bioontology.org/ontology/OMIM/612079
|
|---|---|
| Preferred Name | ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME |
| Synonyms |
ANES
ANE SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ANES
ANE SYNDROME
|
|---|---|
| prefLabel | ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
|
| Gene Symbol |
ANES
RBM28
|
| notation | 612079
|
| Scope Statement | Endocrine defects evolve over time [MISCELLANEOUS]
Caused by mutation in the RNA-binding motif protein 28 gene (RBM28, 612074.0001) [MOLECULAR BASIS]
Based on report of 5 brothers of Arab-Moslem descent (last curated February 2015) [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 7q32.1
|
| tui | T047
|
| cui | C2677535
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |