loading...| Preferred Name |
Allan-Herndon-Dudley syndrome |
| Synonyms |
AHDS |
| Definitions |
A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050631 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:5617 OMIM:300523 MESH:C537047 ORDO:59 |
| definition |
A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. |
| has exact synonym |
AHDS ALLAN-HERNDON SYNDROME |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050631 |
| in_subset | |
| label |
Allan-Herndon-Dudley syndrome |
| notation |
DOID:0050631 |
| prefLabel |
Allan-Herndon-Dudley syndrome |
| subClassOf |