loading...| Preferred Name |
Sotos Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75019 |
| ALT_DEFINITION |
An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. |
| code |
C75019 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
NICHD CCPS Cellosaurus |
| DEFINITION |
An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. |
| FULL_SYN |
Cerebral Gigantism Syndrome Sotos Syndrome Sotos' Syndrome |
| label |
Sotos Syndrome |
| Legacy Concept Name |
Sotos_Syndrome |
| Preferred_Name |
Sotos Syndrome |
| prefixIRI |
Thesaurus:C75019 |
| prefLabel |
Sotos Syndrome |
| Related_To_Genetic_Biomarker | |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0175695 |
| subClassOf |