| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 9 (4.0%) |
9235398 |
[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome]. Schlote T, Volker M, Knorr M, Thiel HJ. Klin Monbl Augenheilkd. 1997;210(4):227-8. |
| Glaucoma | ||
| Adult Child Ectopia Lentis Females Genes, Dominant Homo sapiens Lens, Crystalline Male Syndrome | ||
| 9 (4.0%) |
7214117 |
Marshall syndrome: a condition resembling congenital syphilis. Onile BA, Rotowa A, Osoba AO, Alausa OK. Br J Vener Dis. 1981;57(2):100-2. |
| Cataract | ||
| Differential Diagnosis Ectodermal Dysplasia Homo sapiens Male Syphilis, Congenital |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000215 | Thick upper lip vermilion | Very frequent (99-80%) |
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0002829 | Arthralgia | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000501 | Glaucoma | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0000541 | Retinal detachment | Frequent (79-30%) |
| HP:0000646 | Amblyopia | Frequent (79-30%) |
| HP:0000655 | obsolete Vitreoretinal degeneration | Frequent (79-30%) |
| HP:0000966 | Hypohidrosis | Frequent (79-30%) |
| HP:0001006 | Hypotrichosis | Frequent (79-30%) |
| HP:0001083 | Ectopia lentis | Frequent (79-30%) |
| HP:0002514 | Cerebral calcification | Frequent (79-30%) |
| HP:0002684 | Thickened calvaria | Frequent (79-30%) |
| HP:0002738 | Hypoplastic frontal sinuses | Frequent (79-30%) |
| HP:0002758 | Osteoarthritis | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0004327 | Abnormal vitreous humor morphology | Frequent (79-30%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000535 | Sparse and thin eyebrow | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000653 | Sparse eyelashes | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000518 | Cataract | 3 |
| HP:0000501 | Glaucoma | 2 |
| HP:0000545 | Myopia | 2 |
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0001945 | Fever | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0010280 | Stomatitis | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0025439 | Pharyngitis | 1 |
| HP:0100719 | Lens coloboma | 1 |