Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Contracture (D003286)
Parent Node: Facies (D019066)
Parent Node: Lissencephaly (D054082)
..Starting node ..Winter Harding Hyde syndrome (C536712)
Child Nodes:
Sister Nodes:
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Cobblestone Lissencephaly (D054222) 8
..Fryns-Aftimos Syndrome (C565258)
..Kuzniecky syndrome (C538091)
..Lissencephaly 3 (C566908)
..Lissencephaly Type III and Bone Dysplasia (C563383)
..Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia (C565781)
..Massa Casaer Ceulemans syndrome (C536031)
..Norman Roberts lissencephaly syndrome (C537848)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Pachygyria, frontotemporal (C538092)
..Partial lissencephaly (C536298)
..Winter Harding Hyde syndrome (C536712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11766
Name:	Winter Harding Hyde syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D003286\|MESH:D019066\|MESH:D054082
TreeNumbers:	C05.550.323/C536712 \|C05.651.197/C536712 \|C10.500.507.450.499/C536712 \|C16.131.077/C536712 \|C16.131.666.507.450.499/C536712 \|C23.550.291.812/C536712
Synonyms:	Pachygyria joint contractures facial abnormalities
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)
Reference:	MedGen: C536712 MeSH: C536712 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants