loading...| Preferred Name | multiple synostoses syndrome 2 | |
| Synonyms |
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| Definitions |
A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0081318 |
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| database_cross_reference |
OMIM:610017 GARD:9916 |
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| definition |
A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0081318 |
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| in_subset | ||
| label |
multiple synostoses syndrome 2 |
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| notation |
DOID:0081318 |
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| note |
A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. |
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| preferred label |
multiple synostoses syndrome 2 |
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| prefLabel |
multiple synostoses syndrome 2 |
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| subClassOf |