WormBase Tree Display for DO_term: DOID:0081048
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DOID:0081048 | Name | congenital limbs-face contractures-hypotonia-developmental delay syndrome | |||
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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 (2) | |||||
Disease_model_genotype | WBGenotype00000089 | ||||
WBGenotype00000090 | |||||
WBGenotype00000091 |