| Descriptor English: | Fraser Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Fraser
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| Descriptor Portuguese: | Síndrome de Fraser | ||||
| Descriptor French: | Syndrome de Fraser | ||||
| Entry term(s): |
Cryptophthalmos Syndactyly Syndrome Cryptophthalmos with Other Malformations Cryptophthalmos-Syndactyly Syndrome Cryptophthalmos-Syndactyly Syndromes Syndrome, Fraser |
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| Tree number(s): |
C05.116.099.370.894.819.428 C05.660.585.800.428 C05.660.906.819.428 C11.250.390 C12.050.351.875.397 C12.200.706.410 C12.800.410 C16.131.077.371 C16.131.384.442 C16.131.621.585.800.428 C16.131.621.906.819.428 C16.131.939.410 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D058497 | ||||
| Scope note: | Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome. |
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| Annotation: | do not confuse with FRASIER SYNDROME |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2011 |
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| History Note: | 2011 |
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| Related: |
Frasier Syndrome
MeSH | ||||
| DeCS ID: | 53969 | ||||
| Unique ID: | D058497 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2011/01/01 | ||||
| Date of Entry: | 2010/06/25 | ||||
| Revision Date: | 2016/02/26 |
-
DISEASES
Eye Diseases [C11]Eye Diseases
|
|
Fraser Syndrome
- Preferred
| Concept UI |
M0542891 |
| Scope note | Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome. |
| Preferred term | Fraser Syndrome |
| Entry term(s) |
Cryptophthalmos Syndactyly Syndrome Cryptophthalmos with Other Malformations Cryptophthalmos-Syndactyly Syndrome Cryptophthalmos-Syndactyly Syndromes Syndrome, Fraser |
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