loading...| Preferred Name |
Fine-Lubinsky syndrome |
|
| 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 |
|
| Definitions |
A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011049 |
|
| database_cross_reference |
MESH:C537933 SCTID:720955004 Orphanet:1272 GARD:958 UMLS:C0795941 OMIM:601353 |
|
| definition |
A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_1272 http://identifiers.org/snomedct/720955004 |
|
| 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 |
|
| IAO_0000233 | ||
| id |
MONDO:0011049 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Fine-Lubinsky syndrome |
|
| notation |
MONDO:0011049 |
|
| preferred label |
Fine-Lubinsky syndrome |
|
| prefLabel |
Fine-Lubinsky syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome |
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| excluded_subClassOf | ||
| subClassOf |