loading...| Preferred Name | Kenny-Caffey Syndrome Type 1 | |
| Synonyms |
Kenny-Caffey Syndrome Type 1 |
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| Definitions |
An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130992 |
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| ALT_DEFINITION |
An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. |
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| code |
C130992 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. |
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| FULL_SYN |
Kenny-Caffey Syndrome Type 1 |
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| label |
Kenny-Caffey Syndrome Type 1 |
|
| Preferred_Name |
Kenny-Caffey Syndrome Type 1 |
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| prefixIRI |
Thesaurus:C130992 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1855648 |
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| subClassOf |