Details of Disease | DrugMAP

General Information of Disease (ID: DISF5YQK)

Disease Name	Split-hand/foot malformation with long bone deficiency 1
Synonyms	tibial aplasia with split-hand-split-foot deformity; cleft hand absent tibia; split-hand/foot malformation with long bone deficiency; cleft hand and absent tibia; split-hand-foot malformation with long bone deficiency; tibial aplasia with split-hand/split-foot deformity; ectrodactyly with aplasia of long bones; SHFLD; aplasia of tibia with ectrodactyly; SHFLD1; split-hand/foot malformation with long bone deficiency 1
Disease Hierarchy	DISN7IN9: Tibial aplasia-ectrodactyly syndrome DISF5YQK: Split-hand/foot malformation with long bone deficiency 1
Disease Identifiers	MONDO ID MONDO_0007332 MESH ID C536425 UMLS CUI C1861553 OMIM ID 119100 MedGen ID 349310

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BHLHA9	OT80XOJB	Limited	Unknown	[1]
------------------------------------------------------------------------------------

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.