loading...| Preferred Name |
NAA10-related syndrome |
| Synonyms |
X-linked syndromic intellectual disability caused by mutation in NAA10 NAA10-related syndrome NAA10 X-linked syndromic intellectual disability |
| Definitions |
Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0100124 |
| creator | |
| definition |
Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies. |
| disease has feature | |
| has_exact_synonym |
X-linked syndromic intellectual disability caused by mutation in NAA10 NAA10-related syndrome NAA10 X-linked syndromic intellectual disability |
| IAO_0000233 | |
| id |
MONDO:0100124 |
| in_subset | |
| label |
NAA10-related syndrome |
| notation |
MONDO:0100124 |
| prefLabel |
NAA10-related syndrome |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0100124 | Experimental Factor Ontology / 实验性因素本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0100124 | Experimental Factor Ontology / 实验性因素本体 | SAME_URI |