loading...| Preferred Name | Miller-Dieker Syndrome | |
| Synonyms |
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| Definitions |
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C124852 |
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| code |
C124852 |
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| Contributing_Source |
Cellosaurus |
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| definition |
A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. |
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| in_subset | ||
| label |
Miller-Dieker Syndrome |
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| Preferred_Name |
Miller-Dieker Syndrome |
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| prefixIRI |
NCIT:C124852 |
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| prefLabel |
Miller-Dieker Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0265219 |
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| subClassOf |