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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Respiratory System Abnormalities (D015619)
..Starting node ..Oculoauriculofrontonasal syndrome (C537865)
Child Nodes:
Sister Nodes:
..Bronchogenic Cyst (D001994)
..Bronchopulmonary Sequestration (D001998)
..Choanal Atresia (D002754) 8
..Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
..Fraser-Like Syndrome (C565562)
..Kartagener Syndrome (D007619) 6
..Laryngocele (D059608)
..Laryngostenosis (D007829)
..Oculoauriculofrontonasal syndrome (C537865)
..Scimitar Syndrome (D012587) 1
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Tracheobronchomegaly (D014137)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8173
Name:	Oculoauriculofrontonasal syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D005124\|MESH:D015619\|MESH:D019465
TreeNumbers:	C05.660.207/C537865 \|C08.695/C537865 \|C11.250/C537865 \|C16.131.384/C537865 \|C16.131.621.207/C537865 \|C16.131.740/C537865
Synonyms:	Oculoauriculofrontonasal dysplasia
Slim Mappings:	Congenital abnormality\|Eye disease\|Musculoskeletal disease\|Respiratory tract disease
Reference:	MedGen: C537865 MeSH: C537865 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants