| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 34 (4.0%) |
1393252 |
Pneumosinus dilatans as the aetiology of progressive bilateral blindness. Stretch JR, Poole MD. Br J Plast Surg. 1992;45(6):469-73. |
| Blindness | ||
| Blindness Homo sapiens Male Mandibulofacial Dysostosis Optic Nerve Osteochondrodysplasias Visual Fields |
Total: 35
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000270 | Delayed cranial suture closure | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000336 | Prominent supraorbital ridges | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0003103 | Abnormal cortical bone morphology | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0000076 | Vesicoureteral reflux | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000324 | Facial asymmetry | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000692 | Misalignment of teeth | Frequent (79-30%) |
| HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
| HP:0000894 | Short clavicles | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002673 | Coxa valga | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0002879 | Anisospondyly | Frequent (79-30%) |
| HP:0003172 | Abnormality of the pubic bone | Frequent (79-30%) |
| HP:0004493 | Craniofacial hyperostosis | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | Frequent (79-30%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 5 |
| HP:0002870 | Obstructive sleep apnea | 3 |
| HP:0004322 | Short stature | 2 |
| HP:0030045 | Serpentine fibula | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000618 | Blindness | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001373 | Joint dislocation | 1 |
| HP:0001562 | Oligohydramnios | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002694 | Sclerosis of skull base | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0005731 | Cortical irregularity | 1 |
| HP:0008586 | Hypoplasia of the cochlea | 1 |
| HP:0010535 | Sleep apnea | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0031456 | Ectopic pregnancy | 1 |