Details of Disease | DrugMAP

General Information of Disease (ID: DISRZF9H)

Disease Name	Cooks syndrome
Synonyms	anonychia-onychodystrophy with hypoplasia or absence of distal phalanges; anonychia and absence/hypoplasia of distal phalanges; anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome; Cooks syndrome; ODP
Definition	Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.
Disease Hierarchy	DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DIS2533F: Brachydactyly DISRZF9H: Cooks syndrome
Disease Identifiers	MONDO ID MONDO_0007134 MESH ID C537766 UMLS CUI C1862841 OMIM ID 106995 MedGen ID 354848 Orphanet ID 1487 SNOMED CT ID 720747002

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
SOX9	OTVDJFGN	Limited	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.