- spondyloepimetaphyseal dysplasia with joint laxity type 2 [DOID:0112199]
A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.
- topographical agnosia [DOID:0060153]
An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
- agraphia [DOID:0060223]
An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
- brain ischemia [DOID:2316]
An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
- diabetic cataract [DOID:13328]
A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.
- Marsili syndrome [DOID:0081075]
A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
- asphyxia neonatorum [DOID:11088]
A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.
- placenta praevia [DOID:11060]
A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.