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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: Chromosome Disorders (D025063)
Parent Node: Failure to Thrive (D005183)
..Starting node ..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
Child Nodes:
Sister Nodes:
..Cardiofaciocutaneous syndrome (C535579)
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Edinburgh Malformation Syndrome (C563051)
..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3152
Name:	Delayed Cranial Ossification due to CBFB Haploinsufficiency
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D005183\|MESH:D025063
TreeNumbers:	C16.131.077/C565160 \|C16.131.260/C565160 \|C16.320.180/C565160 \|C23.888.338/C565160
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Signs and symptoms
Reference:	MedGen: C565160 MeSH: C565160 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants