Alopecia, neurologic defects, and endocrinopathy syndrome

Preferred Label : Alopecia, neurologic defects, and endocrinopathy syndrome;

Symbol : ANES;

CISMeF acronym : ANES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ane syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA-binding motif protein 28 gene (RBM28, 612074.0001);

Prefixed ID : #612079;

Details

Origin ID

612079;

UMLS CUI

C2677535;

Automatic exact mappings (from CISMeF team)
- Year [NCIt concept]
- Year [ICNP time]
- per year (qualifier value) [SNOMED CT concept]
- year [UCUM unit]
- year [IUPAC Unit]
- year (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ANE syndrome [ORDO Disease]
- Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) [SNOMED CT concept]
- alopecia, neurologic defects, and endocrinopathy syndrome [MeSH concept]
- alopecia, neurologic defects, and endocrinopathy syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Rna-binding motif protein 28 [OMIM gene]
HPO term(s)
- Adrenal insufficiency [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Central adrenal insufficiency [HPO term]
- Delayed puberty [HPO term]
- Flexion contracture [HPO term]
- Gynecomastia [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypodontia [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Melanocytic nevus [HPO term]
- Microcephaly [HPO term]
- Motor deterioration [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Skeletal muscle atrophy [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
- Upper motor neuron dysfunction [HPO term]
ORDO concept(s)
- ANE syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ANE syndrome [ORDO Disease]
- Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) [SNOMED CT concept]
- alopecia, neurologic defects, and endocrinopathy syndrome [MeSH Supplementary Concept]
- alopecia, neurologic defects, and endocrinopathy syndrome [MeSH concept]

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