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- NCIT_C130993 IAO_0000115 "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." @default.
- NCIT_C130993 NCIT_NHC0 "C130993" @default.
- NCIT_C130993 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C130993 NCIT_P108 "Kenny-Caffey Syndrome Type 2" @default.
- NCIT_C130993 NCIT_P208 "CL519129" @default.
- NCIT_C130993 NCIT_P322 "NICHD" @default.
- NCIT_C130993 NCIT_P325 "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." @default.
- NCIT_C130993 NCIT_R176 NCIT_C16612 @default.
- NCIT_C130993 NCIT_R176 NCIT_C19676 @default.
- NCIT_C130993 NCIT_R176 NCIT_C201155 @default.
- NCIT_C130993 NCIT_R176 NCIT_C21281 @default.
- NCIT_C130993 NCIT_R176 NCIT_C25804 @default.
- NCIT_C130993 NCIT_R176 NCIT_C26003 @default.
- NCIT_C130993 normalizedInformationContent "100" @default.
- NCIT_C130993 referenceCount "1" @default.
- NCIT_C130993 hasExactSynonym "Kenny-Caffey Syndrome Type 2" @default.
- NCIT_C130993 inSubset NCIT_C118467 @default.
- NCIT_C130993 inSubset NCIT_C90259 @default.
- NCIT_C130993 type Class @default.
- NCIT_C130993 isDefinedBy ncit.owl @default.
- NCIT_C130993 label "Kenny-Caffey Syndrome Type 2" @default.
- NCIT_C130993 subClassOf B2739d3169b2fab3ddaecd348fa5ee8f6 @default.
- NCIT_C130993 subClassOf Bf3473c1b2b493205202a963d7dbc9be4 @default.
- NCIT_C130993 subClassOf NCIT_C130991 @default.
- NCIT_C130993 subClassOf NCIT_C130993 @default.
- NCIT_C130993 subClassOf NCIT_C28193 @default.
- NCIT_C130993 subClassOf NCIT_C2991 @default.
- NCIT_C130993 subClassOf NCIT_C7057 @default.