Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT

Synonyms

BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION

FINE-LUBINSKY SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/601353

altLabel

BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION

FINE-LUBINSKY SYNDROME

cui

C0795941

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU049534

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU005733

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU049526

http://purl.bioontology.org/ontology/OMIM/MTHU004213

http://purl.bioontology.org/ontology/OMIM/MTHU049533

http://purl.bioontology.org/ontology/OMIM/MTHU049532

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU013993

http://purl.bioontology.org/ontology/OMIM/MTHU019543

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU004601

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU004811

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU068291

http://purl.bioontology.org/ontology/OMIM/MTHU002016

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU005346

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU059097

http://purl.bioontology.org/ontology/OMIM/MTHU045573

http://purl.bioontology.org/ontology/OMIM/MTHU009481

http://purl.bioontology.org/ontology/OMIM/MTHU000242

MIMTYPEMEANING

Mendelian phenotype or locus, molecular basis unknown.

notation

601353

OMIM Entry Type

5

OMIM MimType Value

perc

prefLabel

BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT

tui

T047

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