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loading...| Preferred Name |
nephronophthisis 1 |
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| Synonyms |
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| Definitions |
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111112 |
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| definition |
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. |
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| imported from | ||
| label |
nephronophthisis 1 |
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| prefixIRI |
DOID:0111112 |
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| prefLabel |
nephronophthisis 1 |
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| subClassOf |
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