loading...| Preferred Name |
Kenny-Caffey Syndrome Type 2 |
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| Synonyms |
Kenny-Caffey Syndrome Type 2 |
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| Definitions |
An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130993 |
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| ALT_DEFINITION |
An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. |
|
| code |
C130993 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. |
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| FULL_SYN |
Kenny-Caffey Syndrome Type 2 |
|
| label |
Kenny-Caffey Syndrome Type 2 |
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| NCI_META_CUI |
CL519129 |
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| Preferred_Name |
Kenny-Caffey Syndrome Type 2 |
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| prefixIRI |
Thesaurus:C130993 |
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| Semantic_Type |
Disease or Syndrome |
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| subClassOf |