Mental Retardation, Autosomal Dominant 28

Preferred Label : Mental Retardation, Autosomal Dominant 28;

NCIt synonyms : ADNP Syndrome; Autosomal Dominant Mental Retardation 28; MRD28; HVDAS; Helsmoortel-Van Der AA Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ADNP gene, encoding activity-dependent neuroprotector homeobox protein. It is characterized by impaired intellectual development, motor delay, autism spectrum disorder, facial dysmorphisms, hypotonia, congenital heart disease, visual difficulties, and gastrointestinal issues.;

Details

Origin ID

C160662;

UMLS CUI

C4014538;

Currated CISMeF NLP mapping
- ADNP syndrome [ORDO Disease]
- ADNP syndrome [MedDRA Preferred Term]
- Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) [SNOMED CT concept]
- Helsmoortel-Van Der Aa Syndrome [DO Concept]
- Helsmoortel-van der Aa syndrome [MedDRA LLT]
- Helsmoortel-van der aa syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADNP syndrome [MedDRA Preferred Term]
- Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) [SNOMED CT concept]
- Helsmoortel-Van der Aa syndrome [MeSH Supplementary Concept]
- Helsmoortel-van der Aa syndrome [MedDRA LLT]
- Helsmoortel-van der aa syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ADNP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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