FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term focal dermal hypoplasia ID (Ontology) DOID:2120 (Human Disease)
Definition A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
Also Known As "FDH" ; "FODH" ; "Goltz syndrome" (for all, see Synonyms field below)
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 Genes
 focal dermal hypoplasia       1
 for disease ribbon | focal dermal hypoplasia       1
 model of | focal dermal hypoplasia       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
disease                        |
 |__syndrome___________________|
                               focal dermal hypoplasia  1 rec.
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Is a X-linked dominant disease
syndrome
Part of
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Synonyms
  • "FDH" EXACT OMO:0003012
    "FODH" EXACT OMO:0003012
    "Goltz syndrome" EXACT
    "Goltz-Gorlin syndrome" EXACT
Secondary IDs
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GARD:6457
MESH:D005489
MIM:305600
NCI:C84715
ORDO:2092
SNOMEDCT_US_2023_03_01:205573006
UMLS_CUI:C0016395