SADDAN
autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16
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SADDAN
Summary
SADDAN is a developmental defect during embryogenesis[1]. SADDAN is known by 5 alternative names across languages and contexts.[2]
Key Facts
- SADDAN's instance of is recorded as developmental defect during embryogenesis[3].
- SADDAN's instance of is recorded as rare disease[4].
- SADDAN's instance of is recorded as class of disease[5].
- SADDAN is a type of achondroplasia[6].
- SADDAN is a type of autosomal dominant disease[7].
- SADDAN is a type of other genetic epidermal disease[8].
- SADDAN is a type of other epidermal disorder[9].
- SADDAN is a type of primary bone dysplasia with micromelia[10].
- SADDAN is a type of FGFR3-related chondrodysplasia[11].
- SADDAN's ICD-9-CM is recorded as 757.39[12].
- SADDAN's ICD-9-CM is recorded as 783.40[13].
- SADDAN's genetic association is recorded as FGFR3[14].
- SADDAN's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111158[15].
- SADDAN's exact match is recorded as http://identifiers.org/doid/DOID:0111158[16].
- SADDAN's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_85165[17].
- SADDAN's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
Why It Matters
SADDAN is known by 5 alternative names across languages and contexts.[2]