6 Disease Ontologies found (0.012 seconds)

Cornelia de Lange syndrome 3 [DOID:0080507]

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.

Cornelia de Lange syndrome 5 [DOID:0080509]

A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.

Cornelia de Lange syndrome 6 [DOID:0060970]

A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13.

Cornelia de Lange syndrome 2 [DOID:0080506]

A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.

Cornelia de Lange syndrome 4 [DOID:0080508]

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.

Cornelia de Lange syndrome 1 [DOID:0080505]

A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.