Term ID: |
11478 |
Name: |
True anophthalmia |
Synonym: |
Complete anophthalmia; Completely missing eyeball; Total anophthalmia |
Definition: |
Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. |
Comments: |
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Reference: |
HP:0011478 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
Genes (2) :ALDH1A3 SMOC1
Diseases (2) :OMIM:615113 ORPHA:1106 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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