Search Ontology:
Human Disease
focal dermal hypoplasia
- Term ID
- DOID:2120
- Synonyms
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- FDH
- FODH
- Goltz syndrome
- Goltz-Gorlin syndrome
- 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. https://rarediseases.info.nih.gov/diseases/6457/disease
- References
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- GARD:6457
- MESH:D005489
- MIM:305600
- NCI:C84715
- ORDO:2092
- SNOMEDCT_US_2023_03_01:205573006
- UMLS_CUI:C0016395
- Ontology
- Human Disease ( DOID:2120 )
- is a type of
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Genes Involved
Zebrafish Models