crouzonodermoskeletal syndrome
autosomal dominant disease characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has material basis in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16
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crouzonodermoskeletal syndrome
Summary
crouzonodermoskeletal syndrome is a developmental defect during embryogenesis[1]. It draws 4 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]
Key Facts
- crouzonodermoskeletal syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- crouzonodermoskeletal syndrome's instance of is recorded as rare disease[4].
- crouzonodermoskeletal syndrome's instance of is recorded as class of disease[5].
- crouzonodermoskeletal syndrome's subclass of is recorded as autosomal dominant disease[6].
- crouzonodermoskeletal syndrome's subclass of is recorded as bone disease[7].
- crouzonodermoskeletal syndrome's subclass of is recorded as Crouzon syndrome[8].
- crouzonodermoskeletal syndrome's subclass of is recorded as acanthosis nigricans[9].
- crouzonodermoskeletal syndrome's subclass of is recorded as craniostenosis associated with a strabismus[10].
- crouzonodermoskeletal syndrome's subclass of is recorded as syndromic craniosynostosis[11].
- crouzonodermoskeletal syndrome's subclass of is recorded as syndrome[12].
- crouzonodermoskeletal syndrome's MeSH descriptor ID is recorded as C567382[13].
- crouzonodermoskeletal syndrome's OMIM ID is recorded as 612247[14].
- crouzonodermoskeletal syndrome's Disease Ontology ID is recorded as DOID:0111161[15].
- crouzonodermoskeletal syndrome's Orphanet ID is recorded as 93262[16].
- crouzonodermoskeletal syndrome's genetic association is recorded as FGFR3[17].
- crouzonodermoskeletal syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111161[18].
- crouzonodermoskeletal syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111161[19].
- crouzonodermoskeletal syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93262[20].
- crouzonodermoskeletal syndrome's UMLS CUI is recorded as C2677099[21].
- crouzonodermoskeletal syndrome's ICD-10-CM is recorded as Q75.1[22].
- crouzonodermoskeletal syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
- crouzonodermoskeletal syndrome's Mondo ID is recorded as MONDO_0012833[24].
- crouzonodermoskeletal syndrome's SNOMED CT ID is recorded as 702361006[25].
- crouzonodermoskeletal syndrome's Microsoft Academic ID is recorded as 2776915612[26].
- crouzonodermoskeletal syndrome's WikiProjectMed ID is recorded as Crouzonodermoskeletal syndrome[27].
Why It Matters
crouzonodermoskeletal syndrome draws 4 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]