Athabaskan brainstem dysgenesis syndrome

Preferred Label : Athabaskan brainstem dysgenesis syndrome;

Symbol : ABDS;

CISMeF acronym : ABDS; BSAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Navajo brainstem syndrome;

Included titles and symbols : Bosley-salih-alorainy syndrome; BSAS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homeobox A1 gene (HOXA1, 142955.0001);

Prefixed ID : #601536;

Details

Origin ID

601536;

UMLS CUI

C1832215;

Automatic exact mappings (from CISMeF team)
- ABD (body structure) [SNOMED CT concept]
- Bosley-Salih-Alorainy syndrome [ORDO Disease]
- Bosley-Salih-Alorainy syndrome [MeSH concept]
- Bosley-Salih-Alorainy syndrome [ICD-11 More detail]
- HOXA1 wt Allele [NCIt concept]
CISMeF manual mappings
- Athabaskan brainstem dysgenesis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Athabaskan brainstem dysgenesis [MeSH concept]
- Athabaskan brainstem dysgenesis syndrome [DO Concept]
- Athabaskan brainstem dysgenesis syndrome [ICD-11 More detail]
- Athabaskan brainstem dysgenesis syndrome [ORDO Disease]
- athabaskan brainstem dysgenesis [MeSH Supplementary Concept]
DO Cross reference
- Athabaskan brainstem dysgenesis syndrome [DO Concept]
Genes related to phenotype
- Homeobox a1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Central hypoventilation [HPO term]
- Delayed gross motor development [HPO term]
- Duane anomaly [HPO term]
- Horizontal supranuclear gaze palsy [HPO term]
- Internal carotid artery hypoplasia [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
Narrower ORDO disease(s)
- Bosley-Salih-Alorainy syndrome [ORDO Disease]
ORDO concept(s)
- Athabaskan brainstem dysgenesis syndrome [ORDO Disease]
- Bosley-Salih-Alorainy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Athabaskan brainstem dysgenesis [MeSH concept]
- Athabaskan brainstem dysgenesis syndrome [ORDO Disease]
- Athabaskan brainstem dysgenesis syndrome [DO Concept]
- Athabaskan brainstem dysgenesis syndrome [ICD-11 More detail]
- Athabaskan brainstem dysgenesis syndrome (disorder) [SNOMED CT concept]
- athabaskan brainstem dysgenesis [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Bosley-Salih-Alorainy syndrome [Disease (Nov.)]

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