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Disease association ontology term - MONDO:0100118 - hereditary skin disorder

Term summary

ID
MONDO:0100118
Name
hereditary skin disorder
Ontology or CV name
Disease association
Definition
An instance of skin disease that is caused by a modification of the individual's genome.

Parents

Annotation

Disease association

MONDO:0007507 - absence of fingerprints-congenital milia syndrome

References:

Genes:

MONDO:0007048 - acrokeratosis verruciformis

References:

Genes:

MONDO:0008294 - acute intermittent porphyria

References:

Genes:

MONDO:0009185 - amelocerebrohypohidrotic syndrome

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Genes:

MONDO:0007145 - aplasia cutis congenita

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Genes:

MONDO:0014010 - autosomal recessive congenital ichthyosis 9

References:

Genes:

MONDO:0018163 - autosomal recessive cutis laxa type 2A

References:

Genes:

MONDO:0027353 - autosomal recessive dyskeratosis congenita 4

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Genes:

MONDO:0008876 - Bloom syndrome

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Genes:

MONDO:0015280 - cardiofaciocutaneous syndrome

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Genes:

MONDO:0007265 - cardiofaciocutaneous syndrome 1

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MONDO:0014112 - cardiofaciocutaneous syndrome 2

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MONDO:0014113 - cardiofaciocutaneous syndrome 3

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MONDO:0014114 - cardiofaciocutaneous syndrome 4

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Genes:

MONDO:0009595 - cartilage-hair hypoplasia

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MONDO:0008963 - Chediak-Higashi syndrome

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MONDO:0010621 - CHILD syndrome

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Genes:

MONDO:0010221 - CHIME syndrome

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Genes:

MONDO:0012071 - congenital generalized lipodystrophy type 1

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MONDO:0010020 - congenital generalized lipodystrophy type 2

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MONDO:0008021 - Cowden syndrome 1

References:

Genes:

MONDO:0014048 - Cowden syndrome 6

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Genes:

MONDO:0014802 - Cowden syndrome 7

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MONDO:0979883 - cranioectodermal dysplasia 6

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Genes:

MONDO:0009902 - cutaneous porphyria

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Genes:

MONDO:0007417 - Darier disease

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Genes:

MONDO:0012556 - DK1-congenital disorder of glycosylation

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Genes:

MONDO:0007483 - dyschromatosis symmetrica hereditaria

References:

Genes:

MONDO:0014169 - dyschromatosis universalis hereditaria 3

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MONDO:0015780 - dyskeratosis congenita

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Genes:

MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

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Genes:

MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

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Genes:

MONDO:0013522 - dyskeratosis congenita, autosomal dominant 3

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Genes:

MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

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Genes:

MONDO:0009136 - dyskeratosis congenita, autosomal recessive 1

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MONDO:0013519 - dyskeratosis congenita, autosomal recessive 2

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Genes:

MONDO:0013520 - dyskeratosis congenita, autosomal recessive 3

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Genes:

MONDO:0014600 - dyskeratosis congenita, autosomal recessive 6

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Genes:

MONDO:0031057 - dyskeratosis congenita, digenic

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Genes:

MONDO:0010584 - dyskeratosis congenita, X-linked

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Genes:

MONDO:0958224 - encephalopathy, porphyria-related

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Genes:

MONDO:0033014 - erythrokeratodermia variabilis et progressiva 4

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Genes:

MONDO:0001676 - erythropoietic protoporphyria

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Genes:

MONDO:0013806 - familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

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Genes:

MONDO:0008296 - familial porphyria cutanea tarda

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Genes:

MONDO:0013997 - focal facial dermal dysplasia type IV

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Genes:

MONDO:0012853 - Fontaine progeroid syndrome

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Genes:

MONDO:0008962 - Griscelli syndrome type 1

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Genes:

MONDO:0008218 - Hailey-Hailey disease

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MONDO:0030048 - harderoporphyria

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Genes:

MONDO:0007369 - hereditary coproporphyria

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Genes:

MONDO:0008017 - hereditary mucoepithelial dysplasia

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Genes:

MONDO:0014885 - Hermansky-Pudlak syndrome 10

References:

Genes:

MONDO:0011997 - Hermansky-Pudlak syndrome 2

References:

Genes:

MONDO:0014131 - hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

References:

Genes:

MONDO:0009440 - ichthyosiform erythroderma, corneal involvement, and hearing loss

References:

Genes:

MONDO:0100221 - IFAP syndrome 2

References:

Genes:

MONDO:0859355 - inflammatory poikiloderma with hair abnormalities and acral keratoses

References:

Genes:

MONDO:0019142 - inherited porphyria

References:

Genes:

MONDO:0007619 - isolated congenital adermatoglyphia

References:

Genes:

MONDO:0011169 - keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

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Genes:

MONDO:0044792 - large congenital melanocytic nevus

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Genes:

MONDO:0958226 - leukoencephalopathy, porphyria-related

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Genes:

MONDO:0008097 - linear nevus sebaceous syndrome

References:

Genes:

MONDO:0024552 - linear skin defects with multiple congenital anomalies 1

References:

Genes:

MONDO:0958023 - lipodystrophy, congenital generalized, type 5

References:

Genes:

MONDO:0012074 - mandibuloacral dysplasia with type B lipodystrophy

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Genes:

MONDO:0012251 - MEDNIK syndrome

References:

Genes:

MONDO:0009601 - metaphyseal dysplasia without hypotrichosis

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Genes:

MONDO:0020738 - multiple benign circumferential skin creases on limbs 1

References:

Genes:

MONDO:0009578 - neurocutaneous melanocytosis

References:

Genes:

MONDO:0008093 - nevus, epidermal

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Genes:

MONDO:0011683 - oculocutaneous albinism type 4

References:

Genes:

MONDO:0007858 - palmoplantar keratoderma, punctate type 1A

References:

Genes:

MONDO:0008416 - palmoplantar keratoderma-sclerodactyly syndrome

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Genes:

MONDO:0002470 - photosensitive trichothiodystrophy

References:

Genes:

MONDO:0011405 - poikiloderma with neutropenia

References:

Genes:

MONDO:0008293 - porokeratosis 3, disseminated superficial actinic type

References:

Genes:

MONDO:0013868 - porokeratosis 7, multiple types

References:

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MONDO:0014713 - porokeratosis 9, multiple types

References:

Genes:

MONDO:0013000 - porphyria due to ALA dehydratase deficiency

References:

Genes:

MONDO:0008319 - protoporphyria, erythropoietic, 1

References:

Genes:

MONDO:0009990 - Revesz syndrome

References:

Genes:

MONDO:0010002 - Rothmund-Thomson syndrome

References:

Genes:

MONDO:0016368 - Rothmund-Thomson syndrome type 1

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Genes:

MONDO:0016369 - Rothmund-Thomson syndrome type 2

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Genes:

MONDO:0970950 - Rothmund-Thomson syndrome type 4

References:

Genes:

MONDO:0014886 - severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

References:

Genes:

MONDO:0014402 - severe neurodegenerative syndrome with lipodystrophy

References:

Genes:

MONDO:0014755 - skin creases, congenital symmetric circumferential, 2

References:

Genes:

MONDO:0024517 - SMARCB1-related schwannomatosis

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MONDO:0007574 - spinocerebellar ataxia type 34

References:

Genes:

MONDO:0010854 - Toriello-Lacassie-Droste syndrome

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Genes:

MONDO:0010152 - trichomegaly-retina pigmentary degeneration-dwarfism syndrome

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Genes:

MONDO:0018053 - trichothiodystrophy

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Genes:

MONDO:0011125 - trichothiodystrophy 1, photosensitive

References:

Genes:

MONDO:0014615 - trichothiodystrophy 2, photosensitive

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MONDO:0014619 - trichothiodystrophy 3, photosensitive

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MONDO:0010495 - trichothiodystrophy 5, nonphotosensitive

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MONDO:0014841 - trichothiodystrophy 6, nonphotosensitive

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MONDO:0032806 - trichothiodystrophy 7, nonphotosensitive

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MONDO:0030517 - trichothiodystrophy 8, nonphotosensitive

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MONDO:0030518 - trichothiodystrophy 9, nonphotosensitive

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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:0008695 - VPS13A-related neurodegenerative disease

References:

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

References:

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MONDO:0010208 - wrinkly skin syndrome

References:

Genes:

MONDO:0010420 - X-linked erythropoietic protoporphyria

References:

Genes:

MONDO:0010523 - X-linked reticulate pigmentary disorder

References:

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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

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MONDO:0010212 - xeroderma pigmentosum group D

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Genes:

MONDO:0010215 - xeroderma pigmentosum group F

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MONDO:0010216 - xeroderma pigmentosum group G

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Genes:

MONDO:0010214 - xeroderma pigmentosum variant type

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MONDO:0980987 - xeroderma pigmentosum, complementation group J

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