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loading...| Preferred Name | Kenny-Caffey syndrome type 1 | |
| Synonyms |
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| Definitions |
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080722 |
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| database_cross_reference |
OMIM:244460 GARD:8367 ORDO:93324 |
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| definition |
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080722 |
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| in_subset | ||
| label |
Kenny-Caffey syndrome type 1 |
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| notation |
DOID:0080722 |
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| note |
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. |
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| preferred label |
Kenny-Caffey syndrome type 1 |
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| prefLabel |
Kenny-Caffey syndrome type 1 |
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| subClassOf |
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