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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Id | http://purl.obolibrary.org/obo/DOID_0060703
http://purl.obolibrary.org/obo/DOID_0060703
|
|---|---|
| Preferred Name | Muenke Syndrome |
| Definitions |
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
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| Synonyms |
FGFR3-related craniosynostosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. |
|---|---|
| alternative label |
FGFR3-related craniosynostosis
|
| preferred label |
Muenke Syndrome
|
| label |
Muenke Syndrome
|
| prefLabel |
Muenke Syndrome
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:440350001
MESH:C537369
UMLS_CUI:C1864436
GARD:7097
MIM:602849
NCI:C84904
ORDO:53271
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|
| notation |
DOID:0060703
|
| in_subset | |
| id |
DOID:0060703
|
| note |
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
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| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym |
FGFR3-related craniosynostosis
|
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