PomBase home

Disease association ontology term - MONDO:0015951 - hereditary photodermatosis

Term summary

ID
MONDO:0015951
Name
hereditary photodermatosis
Ontology or CV name
Disease association
Definition
Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.

Parents

Annotation

Disease association

MONDO:0008294 - acute intermittent porphyria

References:

Genes:

MONDO:0008876 - Bloom syndrome

References:

Genes:

MONDO:0009902 - cutaneous porphyria

References:

Genes:

MONDO:0958224 - encephalopathy, porphyria-related

References:

Genes:

MONDO:0001676 - erythropoietic protoporphyria

References:

Genes:

MONDO:0008296 - familial porphyria cutanea tarda

References:

Genes:

MONDO:0030048 - harderoporphyria

References:

Genes:

MONDO:0007369 - hereditary coproporphyria

References:

Genes:

MONDO:0019142 - inherited porphyria

References:

Genes:

MONDO:0958226 - leukoencephalopathy, porphyria-related

References:

Genes:

MONDO:0013000 - porphyria due to ALA dehydratase deficiency

References:

Genes:

MONDO:0008319 - protoporphyria, erythropoietic, 1

References:

Genes:

MONDO:0010002 - Rothmund-Thomson syndrome

References:

Genes:

MONDO:0016368 - Rothmund-Thomson syndrome type 1

References:

Genes:

MONDO:0016369 - Rothmund-Thomson syndrome type 2

References:

Genes:

MONDO:0970950 - Rothmund-Thomson syndrome type 4

References:

Genes:

MONDO:0015797 - UV-sensitive syndrome

References:

Genes:

MONDO:0010909 - UV-sensitive syndrome 1

References:

Genes:

MONDO:0013829 - UV-sensitive syndrome 2

References:

Genes:

MONDO:0008297 - variegate porphyria

References:

Genes:

MONDO:0957577 - variegate porphyria, childhood-onset

References:

Genes:

MONDO:0010420 - X-linked erythropoietic protoporphyria

References:

Genes:

MONDO:0019600 - xeroderma pigmentosum

References:

Genes:

MONDO:0010210 - xeroderma pigmentosum group A

References:

Genes:

MONDO:0012531 - xeroderma pigmentosum group B

References:

Genes:

MONDO:0010211 - xeroderma pigmentosum group C

References:

Genes:

MONDO:0010212 - xeroderma pigmentosum group D

References:

Genes:

MONDO:0010215 - xeroderma pigmentosum group F

References:

Genes:

MONDO:0010216 - xeroderma pigmentosum group G

References:

Genes:

MONDO:0010214 - xeroderma pigmentosum variant type

References:

Genes:

MONDO:0980987 - xeroderma pigmentosum, complementation group J

References:

Genes: