loading...| Preferred Name |
Fraser syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2052 |
| alternative_term |
Cryptophthalmos-syndactyly syndrome |
| definition |
A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
ICD-10:Q87.0 OMIM:617666 OMIM:617667 UMLS:C0265233 OMIM:219000 MeSH:D058497 ICD-11:LD2H.0 |
| label |
Fraser syndrome |
| notation |
ORPHA:2052 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_117573 |
| prefixIRI |
ORDO:Orphanet_2052 |
| prefLabel |
Fraser syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Spain AND has_birth_prevalence_average_value : 0.43 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_330206 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_117573 |
| subClassOf |