Xia-Gibbs Syndrome

Preferred Label : Xia-Gibbs Syndrome;

NCIt synonyms : XIGIS;

NCIt definition : An autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.;

Details

Origin ID

C192092;

UMLS CUI

C4014419;

Currated CISMeF NLP mapping
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome [ORDO Disease]
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) [SNOMED CT concept]
- Xia-Gibbs Syndrome [DO Concept]
- Xia-gibbs syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) [SNOMED CT concept]
- Xia-gibbs syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AHDC1 Gene [NCIt concept]

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