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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: Agenesis of Corpus Callosum (D061085)
Parent Node: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Exophthalmos (D005094)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Spasms, Infantile (D013036)
..Starting node ..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
Child Nodes:
Sister Nodes:
..Convulsions, Benign Familial Infantile, 2 (C565296)
..Epileptic Encephalopathy, Early Infantile, 1 (C567924)
..Epileptic Encephalopathy, Early Infantile, 2 (C564064)
..Epileptic Encephalopathy, Early Infantile, 3 (C562695)
..Epileptic Encephalopathy, Early Infantile, 4 (C567404)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Norrie disease (C537849)
..PEHO syndrome (C536317)
..X-linked infantile spasm syndrome (C538670)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7174
Name:	Microcephaly, corpus callosum dysgenesis and cleft lip-palate
Definition:
Alternative IDs:
ParentIDs:	MESH:D002971\|MESH:D002972\|MESH:D005094\|MESH:D008607\|MESH:D008831\|MESH:D013036\|MESH:D061085
TreeNumbers:	C05.500.460.185/C537547 \|C05.660.207.540.460.185/C537547 \|C05.660.207.620/C537547 \|C07.320.440.185/C537547 \|C07.465.409.225/C537547 \|C07.465.525.164/C537547 \|C07.465.525.185/C537547 \|C07.650.500.460.185/C537547 \|C07.650.525.164/C537547 \|C07.650.525.185/C537547 \|C1
Synonyms:	Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip-Palate \|Microcephaly, facial clefting, and preaxial polydactyly
Slim Mappings:	Congenital abnormality\|Eye disease\|Mental disorder\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (anatomical condition)\|Signs and symptoms
Reference:	MedGen: C537547 MeSH: C537547 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants