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loading...| Preferred Name |
Joubert syndrome 4 |
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| Synonyms |
JBTS4 |
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| Definitions |
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110999 |
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| alternative label |
JBTS4 |
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| database_cross_reference |
OMIM:609583 MESH:C536296 GARD:10169 |
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| definition |
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. |
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| has exact synonym |
JBTS4 |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0110999 |
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| in_subset | ||
| label |
Joubert syndrome 4 |
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| notation |
DOID:0110999 |
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| note |
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. |
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| preferred label |
Joubert syndrome 4 |
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| prefLabel |
Joubert syndrome 4 |
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| subClassOf |
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