Class information for: |
Basic class information |
| ID | Publications | Average number of references |
Avg. shr. active ref. in WoS |
|---|---|---|---|
| 26312 | 212 | 22.3 | 62% |
Classes in level above (level 2) |
| ID, lev. above |
Publications | Label for level above |
|---|---|---|
| 1789 | 5796 | HEREDITARY SPASTIC PARAPLEGIA//FRIEDREICHS ATAXIA//FRIEDREICH ATAXIA |
Terms with highest relevance score |
| Rank | Term | Type of term | Relevance score (tfidf) |
Class's shr. of term's tot. occurrences |
Shr. of publ. in class containing term |
Num. of publ. in class |
|---|---|---|---|---|---|---|
| 1 | MARINESCO SJOGREN SYNDROME | Author keyword | 45 | 83% | 12% | 25 |
| 2 | MICRO SYNDROME | Author keyword | 12 | 86% | 3% | 6 |
| 3 | WARBURG MICRO SYNDROME | Author keyword | 8 | 70% | 3% | 7 |
| 4 | SIL1 GENE | Author keyword | 6 | 80% | 2% | 4 |
| 5 | PERRAULT SYNDROME | Author keyword | 6 | 58% | 3% | 7 |
| 6 | SIL1 | Author keyword | 5 | 63% | 2% | 5 |
| 7 | BOUCHER NEUHAUSER SYNDROME | Author keyword | 4 | 75% | 1% | 3 |
| 8 | COCHLEOSACCULAR DYSPLASIA | Author keyword | 4 | 75% | 1% | 3 |
| 9 | FINE LUBINSKY SYNDROME | Author keyword | 3 | 100% | 1% | 3 |
| 10 | HOLMES ATAXIA | Author keyword | 3 | 100% | 1% | 3 |
Web of Science journal categories |
Author Key Words |
| Rank | Web of Science journal category | Relevance score (tfidf) |
Class's shr. of term's tot. occurrences |
Shr. of publ. in class containing term |
Num. of publ. in class |
LCSH search | Wikipedia search |
|---|---|---|---|---|---|---|---|
| 1 | MARINESCO SJOGREN SYNDROME | 45 | 83% | 12% | 25 | Search MARINESCO+SJOGREN+SYNDROME | Search MARINESCO+SJOGREN+SYNDROME |
| 2 | MICRO SYNDROME | 12 | 86% | 3% | 6 | Search MICRO+SYNDROME | Search MICRO+SYNDROME |
| 3 | WARBURG MICRO SYNDROME | 8 | 70% | 3% | 7 | Search WARBURG+MICRO+SYNDROME | Search WARBURG+MICRO+SYNDROME |
| 4 | SIL1 GENE | 6 | 80% | 2% | 4 | Search SIL1+GENE | Search SIL1+GENE |
| 5 | PERRAULT SYNDROME | 6 | 58% | 3% | 7 | Search PERRAULT+SYNDROME | Search PERRAULT+SYNDROME |
| 6 | SIL1 | 5 | 63% | 2% | 5 | Search SIL1 | Search SIL1 |
| 7 | BOUCHER NEUHAUSER SYNDROME | 4 | 75% | 1% | 3 | Search BOUCHER+NEUHAUSER+SYNDROME | Search BOUCHER+NEUHAUSER+SYNDROME |
| 8 | COCHLEOSACCULAR DYSPLASIA | 4 | 75% | 1% | 3 | Search COCHLEOSACCULAR+DYSPLASIA | Search COCHLEOSACCULAR+DYSPLASIA |
| 9 | FINE LUBINSKY SYNDROME | 3 | 100% | 1% | 3 | Search FINE+LUBINSKY+SYNDROME | Search FINE+LUBINSKY+SYNDROME |
| 10 | HOLMES ATAXIA | 3 | 100% | 1% | 3 | Search HOLMES+ATAXIA | Search HOLMES+ATAXIA |
Key Words Plus |
| Rank | Web of Science journal category | Relevance score (tfidf) |
Class's shr. of term's tot. occurrences |
Shr. of publ. in class containing term |
Num. of publ. in class |
|---|---|---|---|---|---|
| 1 | BOUCHER NEUHAUSER SYNDROME | 15 | 82% | 4% | 9 |
| 2 | HYPOGENITALISM | 11 | 69% | 4% | 9 |
| 3 | SIL1 | 9 | 59% | 5% | 10 |
| 4 | CCFDN SYNDROME | 8 | 75% | 3% | 6 |
| 5 | CHORIORETINAL DYSTROPHY | 6 | 80% | 2% | 4 |
| 6 | 2ND FAMILY | 5 | 47% | 4% | 8 |
| 7 | UNIQUE ULTRASTRUCTURAL FEATURE | 5 | 63% | 2% | 5 |
| 8 | MARTSOLF SYNDROME | 4 | 75% | 1% | 3 |
| 9 | DYSMORPHISM NEUROPATHY SYNDROME | 3 | 57% | 2% | 4 |
| 10 | NEUROPATHY CCFDN SYNDROME | 3 | 57% | 2% | 4 |
Journals |
Reviews |
| Title | Publ. year | Cit. | Active references |
% act. ref. to same field |
|---|---|---|---|---|
| MICRO syndrome: An entity distinct from COFS syndrome | 2004 | 31 | 29 | 45% |
| Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature | 2011 | 2 | 9 | 100% |
| Perrault syndrome: Report of four new cases, review and exclusion of candidate genes | 2008 | 7 | 10 | 50% |
| Congenital cataracts - Facial dysmorphism - Neuropathy | 2006 | 6 | 15 | 60% |
| Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic | 2008 | 1 | 18 | 50% |
| REVIEW OF THE SCIENTIFIC LITERATURE ON THE HEALTH OF THE ROMA AND SINTI IN ITALY | 2012 | 1 | 7 | 29% |
| A NEW FAMILY OF BOUCHER-NEUHAUSER SYNDROME - COEXISTENCE OF HOLMES TYPE CEREBELLAR ATROPHY, HYPOGONADOTROPIC HYPOGONADISM AND RETINOCHOROIDAL DEGENERATION - CASE-REPORTS AND REVIEW OF LITERATURE | 1995 | 15 | 22 | 27% |
| THE PERRAULT SYNDROME - CLINICAL REPORT AND REVIEW | 1988 | 28 | 3 | 67% |
| Hypogonadism and neurological diseases | 2013 | 2 | 53 | 9% |
Address terms |
| Rank | Address term | Relevance score (tfidf) |
Class's shr. of term's tot. occurrences |
Shr. of publ. in class containing term |
Num. of publ. in class |
|---|---|---|---|---|---|
| 1 | CHILDREN DEV DISORDERS HANDIC S | 1 | 50% | 0.5% | 1 |
| 2 | CNRSUMR S975UMR 7225 | 1 | 50% | 0.5% | 1 |
| 3 | DAVID GEFFEN MEDMED GENET | 1 | 50% | 0.5% | 1 |
| 4 | H S BISPEBJERG HOSP | 1 | 50% | 0.5% | 1 |
| 5 | MOL GENETIKAI DIAGNOSZTIKAI OSZTALY | 1 | 50% | 0.5% | 1 |
| 6 | OPHTHALMOL MINIST EDUC | 1 | 50% | 0.5% | 1 |
| 7 | PEDIAT METAB DISORDERS PEDIAT GENET | 1 | 50% | 0.5% | 1 |
| 8 | PHD PROGRAM PL NEUROL SCI | 1 | 50% | 0.5% | 1 |
| 9 | SERV CYTOPATHOL | 1 | 50% | 0.5% | 1 |
| 10 | STEVEN SPIELBERG PEDIAT SHA CHILD DISA | 1 | 50% | 0.5% | 1 |
Related classes at same level (level 1) |
| Rank | Relatedness score | Related classes |
|---|---|---|
| 1 | 0.0000112293 | AOA2//ARSACS//APRATAXIN |
| 2 | 0.0000109037 | NANCE HORAN SYNDROME//AUTOSOMAL DOMINANT CONGENITAL CATARACT//GJA8 |
| 3 | 0.0000100035 | RHOMBENCEPHALOSYNAPSIS//PONTOCEREBELLAR HYPOPLASIA//GOMEZ LOPEZ HERNANDEZ SYNDROME |
| 4 | 0.0000074781 | NANOPHTHALMOS//ANOPHTHALMIA//MICROPHTHALMIA |
| 5 | 0.0000062772 | PELGER HUET ANOMALY//PELGER HUET//INTERSTITIAL 1Q DELETION |
| 6 | 0.0000062563 | ARTHROGRYPOSIS//NEU LAXOVA SYNDROME//AMYOPLASIA |
| 7 | 0.0000059204 | RAB25//RAB//RAB PROTEINS |
| 8 | 0.0000059140 | DNAJ//GRPE//DNAK |
| 9 | 0.0000057051 | LOWE SYNDROME//OCULOCEREBRORENAL SYNDROME//OCRL1 |
| 10 | 0.0000051776 | ORP150//OXYGEN REGULATED PROTEIN 150//REPLICON INITIATION |