junctional epidermolysis bullosa, non-Herlitz type
Go to external page http://purl.obolibrary.org/obo/MONDO_0009180
Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. [ Orphanet:89840 ]
Synonyms: JEN-nH
Term information
- NANDO:1201066 (https://orcid.org/0000-0003-0011-764X)
- SCTID:33662006 (MONDO:equivalentTo)
- OMIM:226650 (Orphanet:89840/e)
- ICD9:757.39 (MONDO:relatedTo)
- Orphanet:89840 (OMIM:226650)
- UMLS:C0268374 (MONDO:equivalentTo)
- NANDO:2201379 (https://orcid.org/0000-0003-0011-764X)
- MEDGEN:82798 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, mondo_top_grouping_integumentary_system_disorder, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_included, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_integumentary_system_disorder
http://identifiers.org/snomedct/33662006
http://identifiers.org/medgen/82798
http://linkedlifedata.com/resource/umls/id/C0268374
https://omim.org/entry/226650
JEB-I
epidermolysis bullosa Junctionalis, non-Herlitz type
JEB-nH
epidermolysis bullosa Junctionalis, progressive
epidermolysis bullosa, generalized atrophic benign
epidermolysis bullosa, generalised atrophic benign
epidermolysis bullosa, junctional, non-Herlitz type
junctional epidermolysis bullosa inversa
epidermolysis bullosa Junctionalis, Disentis type
epidermolysis bullosa Junctionalis, severe Nonlethal
epidermolysis bullosa, junctional, Localisata variant