WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050177
Child Term . Identifier  DOID:0060769 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.

1 Parent Term

Identifier Name Description
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.