| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
12812989 |
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD. Hum Mol Genet. 2003;12(13):1631-41. |
| Micrognathia | ||
| EBP SC5D | ||
| c|SUB|A|137|C;RS#:104894297 p|SUB|Y|46|S;RS#:104894297 rs104894297 | ||
| Amino Acid Sequence Animals Fibroblasts Genotype Homo sapiens Homozygote Infant, Newborn Lipid Metabolism, Inborn Errors Mice, Transgenic Models, Chemical Models, Genetic Molecular Sequence Data Mus Mutation Oxidoreductases Acting on CH-CH Group Donors Phenotype Sequence Homology, Amino Acid Skin Smith-Lemli-Opitz Syndrome Sterols Time Factors | ||
| 2 (4.0%) |
24621408 |
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis. Calvo PL, Brunati A, Spada M, Romagnoli R, Corso G, Parenti G, Rossi M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M. Am J Transplant. 2014;14(4):960-5. |
| Cataract | ||
| Child, Preschool Females Homo sapiens Intellectual Disability Magnetic Resonance Imaging Oxidoreductases Acting on CH-CH Group Donors Steroid Metabolism, Inborn Errors Syndrome | ||
| 2 (4.0%) |
19123163 |
Cataract development in a young patient with lathosterolosis: a clinicopathologic case report. Cavallini GM, Masini C, Chiesi C, Campi L, Rivasi F, Ferrari P. Eur J Ophthalmol. 2009;19(1):139-42. |
| Cataract | ||
| Cataract Child Females Homo sapiens Lens, Crystalline Lipid Metabolism, Inborn Errors Oxidoreductases Acting on CH-CH Group Donors Phacoemulsification Visual Acuity | ||
| 2 (4.0%) |
15580635 |
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G. Am J Med Genet A. 2005;132A(2):144-51. |
| Hepatic fibrosis | ||
| Child Child, Preschool Females Fibrosis Follow-Up Studies Homo sapiens Infant Liver Male Mutation Oxidoreductases Acting on CH-CH Group Donors Smith-Lemli-Opitz Syndrome Time Factors |
Total: 45
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001830 | Postaxial foot polydactyly | Very frequent (99-80%) |
| HP:0008736 | Hypoplasia of penis | Very frequent (99-80%) |
| HP:0000085 | Horseshoe kidney | Frequent (79-30%) |
| HP:0000212 | Gingival overgrowth | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000340 | Sloping forehead | Frequent (79-30%) |
| HP:0000341 | Narrow forehead | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000414 | Bulbous nose | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000482 | Microcornea | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001336 | Myoclonus | Frequent (79-30%) |
| HP:0001399 | Hepatic failure | Frequent (79-30%) |
| HP:0001406 | Intrahepatic cholestasis | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001770 | Toe syndactyly | Frequent (79-30%) |
| HP:0001873 | Thrombocytopenia | Frequent (79-30%) |
| HP:0001883 | Talipes | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0002308 | Arnold-Chiari malformation | Frequent (79-30%) |
| HP:0002435 | Meningocele | Frequent (79-30%) |
| HP:0002514 | Cerebral calcification | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0004422 | Biparietal narrowing | Frequent (79-30%) |
| HP:0004823 | Anisopoikilocytosis | Frequent (79-30%) |
| HP:0005487 | Prominent metopic ridge | Frequent (79-30%) |
| HP:0007759 | Opacification of the corneal stroma | Frequent (79-30%) |
| HP:0008278 | Cerebellar cortical atrophy | Frequent (79-30%) |
| HP:0011875 | Abnormal platelet morphology | Frequent (79-30%) |
| HP:0100711 | Abnormality of the thoracic spine | Frequent (79-30%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001396 | Cholestasis | 2 |
| HP:0000518 | Cataract | 1 |
| HP:0007787 | Posterior subcapsular cataract | 1 |