loading...| Preferred Name | Kenny-Caffey syndrome | |
| Synonyms |
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| Definitions |
A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080724 |
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| database_cross_reference |
MIM:PS127000 ORDO:2333 |
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| definition |
A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080724 |
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| in_subset | ||
| label |
Kenny-Caffey syndrome |
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| notation |
DOID:0080724 |
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| note |
A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. |
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| preferred label |
Kenny-Caffey syndrome |
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| prefLabel |
Kenny-Caffey syndrome |
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| subClassOf |