Naegeli-Franceschetti-Jadassohn syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0008059
Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. [ Orphanet:69087 ]
Synonyms: Naegeli syndrome NFJ syndrome Naegeli-Franceschetti-Jadassohn syndrome
Term information
- UMLS:C0343111 (MONDO:equivalentTo)
- MEDGEN:91010 (MONDO:equivalentTo)
- icd11.foundation:352035640 (MONDO:equivalentTo)
- SCTID:239084001 (MONDO:equivalentTo)
- DOID:0111528 (MONDO:equivalentTo)
- Orphanet:69087 (OMIM:161000)
- OMIM:161000 (Orphanet:69087/e)
- MESH:C538331 (MONDO:equivalentTo)
- GARD:3912 (MONDO:GARD)
matrix_llm__is_cancer_other, ordo_disorder, gard_rare, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, rare, orphanet_rare, harrisons_view_integumentary_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis
http://identifiers.org/snomedct/239084001
http://purl.obolibrary.org/obo/DOID_0111528
https://omim.org/entry/161000
http://linkedlifedata.com/resource/umls/id/C0343111
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/352035640
http://www.orpha.net/ORDO/Orphanet_69087
http://identifiers.org/mesh/C538331
http://identifiers.org/medgen/91010
Nfj syndrome
NAEGELI syndrome
NFJS
NAEGELI-Franceschetti-Jadassohn syndrome
reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy