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: Ichthyosis (D007057)
Parent Node: Trichothiodystrophy Syndromes (D054463)
..Starting node ..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
Child Nodes:
Sister Nodes:
..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
..Sabinas brittle hair syndrome (C536320)
..Trichorrhexis nodosa syndrome (C536556)
..Trichothiodystrophy with Sun Sensitivity (C564733)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5675
Name:	Ichthyosis, Congenital, with Trichothiodystrophy
Definition:
Alternative IDs:
ParentIDs:	MESH:D007057\|MESH:D054463
TreeNumbers:	C16.131.077.899/C566643 \|C16.131.831.512/C566643 \|C16.131.831.874/C566643 \|C16.320.850.895/C566643 \|C16.614.492/C566643 \|C17.800.428.333/C566643 \|C17.800.804.512/C566643 \|C17.800.804.874/C566643 \|C17.800.827.895/C566643
Synonyms:	Trichothiodystrophy with Congenital Ichthyosis
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Infant-newborn disease\|Skin disease
Reference:	MedGen: C566643 MeSH: C566643 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants