ectodermal dysplasia

Term ID

DOID:2121

Synonyms

Congenital ectodermal defect
Congenital ectodermal dysplasia

Definition

A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. (3)

References

GARD:6317
ICD9CM:757.31
MESH:D004476
NCI:C84683
OMIM:PS305100
ORDO:79373
SNOMEDCT_US_2023_03_01:8654005
UMLS_CUI:C0013575

Ontology

Human Disease ( DOID:2121 )

Relationships

is a type of: syndrome

syndrome Show first 5 Terms
has subtype: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome BASAN syndrome cartilage-hair hypoplasia Clouston syndrome dermatopathia pigmentosa reticularis ... Show All 23 Terms

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome BASAN syndrome cartilage-hair hypoplasia Clouston syndrome dermatopathia pigmentosa reticularis ectodermal dysplasia 8 ectodermal dysplasia 13 ectodermal dysplasia 14 ectodermal dysplasia 15 ectodermal dysplasia and immune deficiency ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome hypohidrotic ectodermal dysplasia Marshall syndrome Naegeli-Franceschetti-Jadassohn syndrome oculoectodermal syndrome palmoplantar keratoderma and congenital alopecia 1 palmoplantar keratoderma and congenital alopecia 2 Papillon-Lefevre disease pure hair and nail ectodermal dysplasia Rapp-Hodgkin syndrome scalp-ear-nipple syndrome Schinzel Giedion syndrome Schopf-Schulz-Passarge syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations