Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development

Preferred Label : Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development;

Symbol : ACCIID;

CISMeF acronym : ACCIID;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 3, catalytic subunit, alpha isoform gene (PPP3CA, 114105.0007);

Prefixed ID : #618265;

Détails

Origin ID

618265;

UMLS CUI

C4748872;

Automatic exact mappings (from CISMeF team)
- Acid [NCIt concept]
- Acid (substance) [SNOMED CT concept]
- Acids [DeCS]
- acid [IUPAC Term]
- acid, nos [SNOMED Notion]
- acids [MeSH concept]
- acids [MeSH Descriptor]
- lysergic acid diethylamide [MeSH Descriptor]
Genes related to phenotype
- Protein phosphatase 3, catalytic subunit, alpha isoform [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Craniosynostosis [HPO term]
- Decreased body weight [HPO term]
- Hydronephrosis [HPO term]
- Intellectual disability [HPO term]
- Micrognathia [HPO term]
- Plagiocephaly [HPO term]
- Short stature [HPO term]
- Thin ribs [HPO term]
- Trigonocephaly [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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