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Disease association ontology term - MONDO:0019287 - ectodermal dysplasia syndrome

Term summary

ID
MONDO:0019287
Name
ectodermal dysplasia syndrome
Ontology or CV name
Disease association
Definition
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.

Parents

Annotation

Disease association

MONDO:0009185 - amelocerebrohypohidrotic syndrome

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MONDO:0027353 - autosomal recessive dyskeratosis congenita 4

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MONDO:0015280 - cardiofaciocutaneous syndrome

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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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MONDO:0009595 - cartilage-hair hypoplasia

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MONDO:0010221 - CHIME syndrome

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MONDO:0979883 - cranioectodermal dysplasia 6

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MONDO:0015780 - dyskeratosis congenita

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MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

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MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

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MONDO:0013522 - dyskeratosis congenita, autosomal dominant 3

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MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

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MONDO:0009136 - dyskeratosis congenita, autosomal recessive 1

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MONDO:0013519 - dyskeratosis congenita, autosomal recessive 2

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MONDO:0013520 - dyskeratosis congenita, autosomal recessive 3

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MONDO:0014600 - dyskeratosis congenita, autosomal recessive 6

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MONDO:0031057 - dyskeratosis congenita, digenic

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MONDO:0010584 - dyskeratosis congenita, X-linked

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MONDO:0013997 - focal facial dermal dysplasia type IV

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MONDO:0012853 - Fontaine progeroid syndrome

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

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MONDO:0009601 - metaphyseal dysplasia without hypotrichosis

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MONDO:0002470 - photosensitive trichothiodystrophy

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MONDO:0009990 - Revesz syndrome

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MONDO:0010854 - Toriello-Lacassie-Droste syndrome

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

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MONDO:0018053 - trichothiodystrophy

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MONDO:0011125 - trichothiodystrophy 1, photosensitive

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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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