WormBase Tree Display for DO_term: DOID:0081048
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| DOID:0081048 | Name | congenital limbs-face contractures-hypotonia-developmental delay syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. | ||||
| Synonym | Exact | CLIFAHDD syndrome | |||
| congenital contractures of the limbs and face, hypotonia, and developmental delay | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 616266 | |
| Disease_model_annotation | WBDOannot00001101 | ||||
| WBDOannot00001102 | |||||
| WBDOannot00001103 | |||||
| WBDOannot00001104 | |||||
| WBDOannot00001105 | |||||
| Attribute_of | Gene_by_biology | WBGene00006809 | |||
| Gene_by_orthology | WBGene00003558 | ||||
| WBGene00006809 | |||||
| WBGene00008911 | |||||
| Disease_model_variation | WBVar00143348 | ||||
| WBVar00087918 | |||||
| Disease_model_genotype | WBGenotype00000089 | ||||
| WBGenotype00000090 | |||||
| WBGenotype00000091 |
