Details of Disease | DrugMAP

General Information of Disease (ID: DIS3JCKA)

Disease Name	Split-foot malformation-mesoaxial polydactyly syndrome
Synonyms	split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome; SFMMP; split-foot malformation with mesoaxial polydactyly
Disease Hierarchy	DISYKSRF: Genetic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS3JCKA: Split-foot malformation-mesoaxial polydactyly syndrome
Disease Identifiers	MONDO ID MONDO_0014816 UMLS CUI C5567487 OMIM ID 616890 MedGen ID 1798910 Orphanet ID 488232 SNOMED CT ID 1172635005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAP3K20	TTTUZ3O	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAP3K20	OT0ALMEG	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.