| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
Show
|
| HP:0000523 | Subcapsular cataracts | |
Show
|
| HP:0000541 | Detached retina | |
Show
|
| HP:0000557 | Buphthalmos | "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek bous or ox and ophthalmos or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:curators] |
Show
|
| HP:0000572 | Visual loss | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000659 | Peters anomaly | |
Show
|
| HP:0001052 | Nevus flammeus | "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] |
Show
|
| HP:0001087 | Congenital glaucoma | |
Show
|
| HP:0001425 | Heterogeneous | |
Show
|
| HP:0007906 | Increased intraocular pressure | |
Show
|
| HP:0007957 | Variable degree of corneal opacities | |
Show
|
| HP:0008007 | Primary congenital glaucoma | |
Show
|
| HP:0008041 | Late onset congenital glaucoma | |
Show
|
| HP:0011483 | Anterior synechiae of the anterior chamber | "Adhesions between the iris and the cornea." [DDD:ncarter] |
Show
|
| HP:0011484 | Posterior synechiae of the anterior chamber | "Adhesions between the iris and the lens." [DDD:ncarter] |
Show
|
| HP:0011490 | Abnormality of Descemet s membrane | "Abnormality of Descemet s membrane, which is the basement membrane of the corneal endothelium." [DDD:gblack] |
Show
|
| HP:0011493 | Central opacification of the cornea | "Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter] |
Show
|
| HP:0011496 | Corneal vascularization | "Ingrowth of vessels into the corneal epithelium." [DDD:ncarter] |
Show
|
| HP:0031159 | Thinning of Descemet membrane | "A reduction in the thickness of Descemet s membrane." [] |
Show
|
