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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: Trichothiodystrophy Syndromes (D054463)
..Starting node ..Trichorrhexis nodosa syndrome (C536556)
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:	11242
Name:	Trichorrhexis nodosa syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D054463
TreeNumbers:	C16.131.077.899/C536556 \|C16.131.831.874/C536556 \|C16.320.850.895/C536556 \|C17.800.804.874/C536556 \|C17.800.827.895/C536556
Synonyms:	Pollitt syndrome \|Trichothiodystrophy-neurocutaneous syndrome \|Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Skin disease
Reference:	MedGen: C536556 MeSH: C536556 OMIM: 275550; Genes:
Phenotypes
Disease Causing ClinVar Variants