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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: Ichthyosis (D007057)
Parent Node: Papilloma (D010212)
..Starting node ..Ichthyosis hystrix gravior (C536087)
Child Nodes:
Sister Nodes:
..Davenport Donlan syndrome (C535988)
..Hyperkeratosis of the palms and soles and esophageal papillomas (C538682)
..Ichthyosis hystrix gravior (C536087)
..Laryngeal papillomatosis (C537876)
..Papilloma, Inverted (D018308)
..Papillomatosis, Familial Cutaneous (C566832)
..Papillomatosis, florid, of nipple (C537167)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5682

Name:

Ichthyosis hystrix gravior

Definition:

Alternative IDs:

ParentIDs:

MESH:D007057|MESH:D010212

TreeNumbers:

C04.557.470.700.600/C536087 |C16.131.831.512/C536087 |C16.614.492/C536087 |C17.800.428.333/C536087 |C17.800.804.512/C536087

Synonyms:

Ichthyosis, Lambert Type |Lambert type ichthyosis |Porcupine man

Slim Mappings:

Cancer|Congenital abnormality|Infant-newborn disease|Skin disease

Reference:

MedGen: C536087
MeSH: C536087
OMIM: 146600;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008064	Ichthyosis

Disease Causing ClinVar Variants