| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 67 (4.0%) |
216789 |
Cerebral gigantism (Sotos' syndrome) and cataracts. Yeh H, Price RL, Lonsdale D. J Pediatr Ophthalmol Strabismus. 1978;15(4):231-2. |
| Cataract | ||
| Age Determination by Skeleton Body Weight Cataract Child, Preschool Females Gigantism Homo sapiens Pre-Eclampsia Pregnancy Syndrome |
Total: 50
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000098 | Tall stature | Very frequent (99-80%) |
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000348 | High forehead | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0005616 | Accelerated skeletal maturation | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000826 | Precocious puberty | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0001943 | Hypoglycemia | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0006288 | Advanced eruption of teeth | Frequent (79-30%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Frequent (79-30%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000069 | Abnormality of the ureter | Occasional (29-5%) |
| HP:0000075 | Renal duplication | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0001231 | Abnormal fingernail morphology | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001347 | Hyperreflexia | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001374 | Congenital hip dislocation | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0002353 | EEG abnormality | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0002970 | Genu varum | Occasional (29-5%) |
| HP:0004375 | Neoplasm of the nervous system | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0030736 | Sacrococcygeal teratoma | Occasional (29-5%) |
Total: 85
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001548 | Overgrowth | 34 |
| HP:0000256 | Macrocephaly | 14 |
| HP:0000098 | Tall stature | 4 |
| HP:0002650 | Scoliosis | 4 |
| HP:0004322 | Short stature | 4 |
| HP:0001176 | Large hands | 3 |
| HP:0002664 | Neoplasm | 3 |
| HP:0000126 | Hydronephrosis | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000268 | Dolichocephaly | 2 |
| HP:0000648 | Optic atrophy | 2 |
| HP:0000709 | Psychosis | 2 |
| HP:0000832 | Primary hypothyroidism | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001252 | Muscular hypotonia | 2 |
| HP:0001382 | Joint hypermobility | 2 |
| HP:0001513 | Obesity | 2 |
| HP:0001561 | Polyhydramnios | 2 |
| HP:0001763 | Pes planus | 2 |
| HP:0001909 | Leukemia | 2 |
| HP:0002312 | Clumsiness | 2 |
| HP:0005490 | Postnatal macrocephaly | 2 |
| HP:0008250 | Infantile hypercalcemia | 2 |
| HP:0011220 | Prominent forehead | 2 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000275 | Narrow face | 1 |
| HP:0000307 | Pointed chin | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000325 | Triangular face | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000608 | Macular degeneration | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000718 | Aggressive behavior | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000829 | Hypoparathyroidism | 1 |
| HP:0000957 | Cafe-au-lait spot | 1 |
| HP:0000980 | Pallor | 1 |
| HP:0000998 | Hypertrichosis | 1 |
| HP:0001105 | Retinal atrophy | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001260 | Dysarthria | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001332 | Dystonia | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002080 | Intention tremor | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002311 | Incoordination | 1 |
| HP:0002353 | EEG abnormality | 1 |
| HP:0002783 | Recurrent lower respiratory tract infections | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0003072 | Hypercalcemia | 1 |
| HP:0003201 | Rhabdomyolysis | 1 |
| HP:0004373 | Focal dystonia | 1 |
| HP:0005523 | Lymphoproliferative disorder | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0008462 | Cervical instability | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0009890 | High anterior hairline | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010614 | Fibroma | 1 |
| HP:0010617 | Cardiac fibroma | 1 |
| HP:0010646 | Cervical spine instability | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0012181 | Entrapment neuropathy | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0030357 | Small cell lung carcinoma | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0031273 | Shock | 1 |
| HP:0032008 | Pulmonary fat embolism | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0200008 | Intestinal polyposis | 1 |