| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.8%) |
29873822 |
Oral manifestations and rehabilitation in Fraser syndrome: A case report. Gallottini M, Llanos AH, Romito GA, Romano MM, de Oliveira FB, de Rezende NPM. Spec Care Dentist. 2018;38(4):249-254. |
| Facial asymmetry Hypodontia Cryptophthalmos Syndactyly | ||
| Combined Modality Therapy Dental Prosthesis, Implant-Supported Esthetics, Dental Females Homo sapiens Malocclusion Palatal Expansion Technique Panoramic Radiography Tooth Abnormalities Tooth Extraction | ||
| 1 (58.8%) |
21806907 |
Case report: hypodontia and short roots in a child with Fraser syndrome. Keene EJ, Day PF. Eur Arch Paediatr Dent. 2011;12(4):216-8. |
| Gingivitis Cryptophthalmos Syndactyly | ||
| Dental Calculus Dental Hygiene Dental Scaling Females Homo sapiens Periodontal Splints Tooth Mobility | ||
| 3 (57.3%) |
29120500 |
Oral healthcare in Fraser syndrome. Hassona Y, Kharoub H, Scully C. Spec Care Dentist. 2017;37(5):263-266. |
| Cryptophthalmos Syndactyly | ||
| Dental Care for Chronically Ill Females Homo sapiens Young Adult | ||
| 3 (57.3%) |
28465758 |
Fraser Syndrome - a Case Report and Review of Literature. Dumitru A, Costache M, Lazaroiu AM, Simion G, Secara D, Cirstoiu M, Emanoil A, Georgescu TA, Sajin M. Maedica (Buchar). 2016;11(1):80-83. |
| Cryptophthalmos Syndactyly | ||
| 3 (57.3%) |
26552811 (4640198) |
Prenatal diagnosis of Fraser syndrome: a matter of life or death? De Bernardo G, Giordano M, Di Toro A, Sordino D, De Brasi D. Ital J Pediatr. 2015;41:86. |
| Cryptophthalmos Syndactyly | ||
| FREM2 | ||
| Females Homo sapiens Infant, Newborn Pregnancy | ||
| 3 (57.3%) |
26522198 |
Fraser Syndrome. Saleem AA, Siddiqui SN. J Coll Physicians Surg Pak. 2015;25 Suppl 2:S124-6. |
| Cryptophthalmos Syndactyly | ||
| FRAS1 FREM2 GRIP1 | ||
| Eye Abnormalities Females Homo sapiens Infant Pregnancy Syndactyly | ||
| 3 (57.3%) |
26384833 |
Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature. Izadi F, Ahmadi A, Zobairy H, Bakhti S, Hirbod H, Safdarian M. Int J Pediatr Otorhinolaryngol. 2015;79(11):1959-62. |
| Cryptophthalmos Syndactyly | ||
| Child Females Homo sapiens Laryngeal Diseases Syndactyly | ||
| 3 (57.3%) |
23473829 |
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I. Gene. 2013;520(2):194-7. |
| Cryptophthalmos Syndactyly | ||
| FRAS1 | ||
| Extracellular Matrix Proteins Family Females Heterozygote Homo sapiens Pregnancy Sequence Deletion | ||
| 3 (57.3%) |
22510445 |
Mutations in GRIP1 cause Fraser syndrome. Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. J Med Genet. 2012;49(5):303-6. |
| Cryptophthalmos Syndactyly | ||
| GRIP1 | ||
| c|DEL|1181_1184| c|SUB|G|2113+1|C;RS#:397514485 rs397514485 rs397514486 | ||
| Carrier Proteins Females Fetus Genetic Diseases, Inborn Homo sapiens Male Mutation Nerve Tissue Proteins Phenotype Pregnancy | ||
| 3 (57.3%) |
18603689 |
Fraser syndrome. Kalpana Kumari MK, Kamath S, Mysorekar VV, Nandini G. Indian J Pathol Microbiol. 2008;51(2):228-9. |
| Cryptophthalmos Syndactyly | ||
| Homo sapiens Infant, Newborn Kidney Male Syndactyly Syndrome |
Total: 58
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000003 | Multicystic kidney dysplasia | Very frequent (99-80%) |
| HP:0000089 | Renal hypoplasia | Very frequent (99-80%) |
| HP:0000618 | Blindness | Very frequent (99-80%) |
| HP:0001126 | Cryptophthalmos | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0007925 | Lacrimal duct aplasia | Very frequent (99-80%) |
| HP:0007993 | Malformed lacrimal duct | Very frequent (99-80%) |
| HP:0000046 | Scrotal hypoplasia | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Frequent (79-30%) |
| HP:0000142 | Abnormal vagina morphology | Frequent (79-30%) |
| HP:0000148 | Vaginal atresia | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000370 | Abnormality of the middle ear | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000528 | Anophthalmia | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0000689 | Dental malocclusion | Frequent (79-30%) |
| HP:0001602 | Laryngeal stenosis | Frequent (79-30%) |
| HP:0001770 | Toe syndactyly | Frequent (79-30%) |
| HP:0002023 | Anal atresia | Frequent (79-30%) |
| HP:0002025 | Anal stenosis | Frequent (79-30%) |
| HP:0003183 | Wide pubic symphysis | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0008572 | External ear malformation | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0010297 | Bifid tongue | Frequent (79-30%) |
| HP:0010458 | Female pseudohermaphroditism | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000068 | Urethral atresia | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000204 | Cleft upper lip | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0000413 | Atresia of the external auditory canal | Occasional (29-5%) |
| HP:0000430 | Underdeveloped nasal alae | Occasional (29-5%) |
| HP:0000813 | Bicornuate uterus | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001362 | Calvarial skull defect | Occasional (29-5%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001607 | Subglottic stenosis | Occasional (29-5%) |
| HP:0002084 | Encephalocele | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002101 | Abnormal lung lobation | Occasional (29-5%) |
| HP:0002475 | Myelomeningocele | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002777 | Tracheal stenosis | Occasional (29-5%) |
| HP:0003191 | Cleft ala nasi | Occasional (29-5%) |
| HP:0003422 | Vertebral segmentation defect | Occasional (29-5%) |
| HP:0004112 | Midline nasal groove | Occasional (29-5%) |
| HP:0004397 | Ectopic anus | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0010720 | Abnormal hair pattern | Occasional (29-5%) |
Total: 31
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001126 | Cryptophthalmos | 28 |
| HP:0001159 | Syndactyly | 16 |
| HP:0008750 | Laryngeal atresia | 5 |
| HP:0000062 | Ambiguous genitalia | 4 |
| HP:0000568 | Microphthalmia | 4 |
| HP:0001602 | Laryngeal stenosis | 3 |
| HP:0009796 | Branchial cyst | 3 |
| HP:0000528 | Anophthalmia | 2 |
| HP:0001562 | Oligohydramnios | 2 |
| HP:0012725 | Cutaneous syndactyly | 2 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000234 | Abnormality of the head | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001680 | Coarctation of aorta | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004467 | Preauricular pit | 1 |
| HP:0005950 | Laryngeal web | 1 |
| HP:0008572 | External ear malformation | 1 |
| HP:0009795 | Branchial fistula | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0011109 | Chronic sinusitis | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0100543 | Cognitive impairment | 1 |