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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: Abnormalities, Multiple (D000015)
Parent Node: Agenesis of Corpus Callosum (D061085)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Hernias, Diaphragmatic, Congenital (D065630)
..Starting node ..Saal Bulas syndrome (C537193)
Child Nodes:
Sister Nodes:
..Donnai-Barrow syndrome (C536390)
..Epidermolysis Bullosa With Diaphragmatic Hernia (C565588)
..Hernia, Anterior Diaphragmatic (C564413)
..Kennerknecht Sorgo Oberhoffer syndrome (C537018)
..Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Saal Bulas syndrome (C537193)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9929
Name:	Saal Bulas syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006228\|MESH:D006330\|MESH:D061085\|MESH:D065630
TreeNumbers:	C05.390.408/C537193 \|C05.660.585.988.425/C537193 \|C10.500.034/C537193 \|C14.240.400/C537193 \|C14.280.400/C537193 \|C16.131.077/C537193 \|C16.131.240.400/C537193 \|C16.131.433/C537193 \|C16.131.621.585.425/C537193 \|C16.131.666.034/C537193 \|C23.300.008/C537193 \|C23.300.70
Synonyms:	Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Musculoskeletal disease\|Nervous system disease\|Pathology (anatomical condition)
Reference:	MedGen: C537193 MeSH: C537193 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants