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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: Alopecia (D000505)
Parent Node: Ectropion (D004483)
Parent Node: Ichthyosis (D007057)
Parent Node: Intellectual Disability (D008607)
Parent Node: Mouth Abnormalities (D009056)
..Starting node ..Jagell Holmgren Hofer syndrome (C537364)
Child Nodes:
Sister Nodes:
..Ankyloglossia (C562396)
..Calabro syndrome (C537960)
..Cleft Lip (D002971) 59
..Cleft Palate (D002972) 103
..Cleft Palate-Lateral Synechia Syndrome (C563047)
..Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
..Fibromatosis, Gingival (D005351) 11
..Jagell Holmgren Hofer syndrome (C537364)
..Macrostomia (D008265) 3
..Microstomia (D008865) 4
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Velopharyngeal Insufficiency (D014681)
..Verloove-Vanhorick Brubakk syndrome (C536541)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5939
Name:	Jagell Holmgren Hofer syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000505\|MESH:D004483\|MESH:D007057\|MESH:D008607\|MESH:D009056
TreeNumbers:	C07.465.525/C537364 \|C07.650.525/C537364 \|C10.597.606.643/C537364 \|C11.338.362/C537364 \|C16.131.831.512/C537364 \|C16.131.850.525/C537364 \|C16.614.492/C537364 \|C17.800.329.937.122/C537364 \|C17.800.428.333/C537364 \|C17.800.804.512/C537364 \|C23.300.035/C537364 \|C23.88
Synonyms:	Ichthyosis alopecia eclabion ectropion mental retardation \|Ichthyosis With Alopecia, Eclabion, Ectropion, And Mental Retardation
Slim Mappings:	Congenital abnormality\|Eye disease\|Infant-newborn disease\|Mental disorder\|Mouth disease\|Nervous system disease\|Pathology (anatomical condition)\|Signs and symptoms\|Skin disease
Reference:	MedGen: C537364 MeSH: C537364 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants