FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ectodermal dysplasia ID (Ontology) DOID:2121 (Human Disease)
Definition A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Also Known As "Congenital ectodermal defect" ; "Congenital ectodermal dysplasia"
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  disease
   |__syndrome
       |__ectodermal dysplasia  19 rec.
           |__ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1 rec.
           |__BASAN syndrome 1 rec.
           |__cartilage-hair hypoplasia
           |__Clouston syndrome
           |__dermatopathia pigmentosa reticularis
           |__ectodermal dysplasia 8
           |__ectodermal dysplasia 13
           |__ectodermal dysplasia 14 1 rec.
           |__ectodermal dysplasia 15 3 rec.
           |__ectodermal dysplasia and immune deficiency 1 rec.
           |   |__ectodermal dysplasia and immunodeficiency 1
           |   |__ectodermal dysplasia and immunodeficiency 2 1 rec.
           |__ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
           |__hypohidrotic ectodermal dysplasia 1 rec.
           |   |__ectodermal dysplasia 1 1 rec.
           |   |__ectodermal dysplasia 10A
           |   |__ectodermal dysplasia 10B
           |   |__ectodermal dysplasia 11A
           |   |__ectodermal dysplasia 11B
           |   |__ectodermal dysplasia 12
           |__Marshall syndrome 1 rec.
           |__Naegeli-Franceschetti-Jadassohn syndrome
           |__oculoectodermal syndrome 1 rec.
           |__palmoplantar keratoderma and congenital alopecia 1
           |__palmoplantar keratoderma and congenital alopecia 2
           |__Papillon-Lefevre disease 7 rec.
           |__pure hair and nail ectodermal dysplasia
           |   |__ectodermal dysplasia 4
           |   |__ectodermal dysplasia 5
           |   |__ectodermal dysplasia 6
           |   |__ectodermal dysplasia 7
           |   |__ectodermal dysplasia 9
           |__Rapp-Hodgkin syndrome 1 rec.
           |__scalp-ear-nipple syndrome 1 rec.
           |__Schinzel Giedion syndrome
           |__Schopf-Schulz-Passarge syndrome 1 rec.
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Synonyms
  • "Congenital ectodermal defect" EXACT
    "Congenital ectodermal dysplasia" EXACT
Secondary IDs
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GARD:6317
ICD9CM:757.31
MESH:D004476
MIM:PS305100
NCI:C84683
ORDO:79373
SNOMEDCT_US_2023_03_01:8654005
UMLS_CUI:C0013575