loading...| Preferred Name |
Fine-Lubinsky syndrome |
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| Synonyms |
brachycephaly, deafness, cataract and mental retardation brachycephaly, deafness, cataract, microstomia, and intellectual disability brachycephaly, deafness, cataract and intellectual disability brachycephaly, deafness, cataract, microstomia, and mental retardation brachycephaly-deafness-cataract-intellectual disability syndrome fine-Lubinsky syndrome |
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| Definitions |
A syndrome characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0011049 |
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| altLabel |
brachycephaly, deafness, cataract and mental retardation brachycephaly, deafness, cataract, microstomia, and intellectual disability brachycephaly, deafness, cataract and intellectual disability brachycephaly, deafness, cataract, microstomia, and mental retardation brachycephaly-deafness-cataract-intellectual disability syndrome fine-Lubinsky syndrome |
|
| definition |
A syndrome characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. |
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| has_exact_synonym |
brachycephaly-deafness-cataract-intellectual disability syndrome fine-Lubinsky syndrome |
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| has_related_synonym |
brachycephaly, deafness, cataract and mental retardation brachycephaly, deafness, cataract, microstomia, and intellectual disability brachycephaly, deafness, cataract and intellectual disability brachycephaly, deafness, cataract, microstomia, and mental retardation |
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| IAO_0000233 | ||
| label |
Fine-Lubinsky syndrome |
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| prefixIRI |
MONDO:0011049 |
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| prefLabel |
Fine-Lubinsky syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome |
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| textual definition |
A syndrome characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. |
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| subClassOf |