Search Ontology:
Human Disease

X-linked chondrodysplasia punctata 2

Term ID
DOID:0080352
Synonyms
  • Conradi-Hunermann Syndrome
  • Happle syndrome
Definition
A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2
References
Ontology
Human Disease   ( DOID:0080352 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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