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[X] orofaciodigital syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0015375

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. [ MESH:D009958 ]

Synonyms: Oral-Facial-Digital Syndrome orofaciodigital syndrome oral-facial-digital syndrome OFD

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:10692 (MONDO:GARD)
  • SCTID:52868006 (MONDO:equivalentTo)
  • icd11.foundation:1405407847 (https://orcid.org/0000-0001-5208-3432)
  • MEDGEN:14518 (MONDO:equivalentTo)
  • NORD:1529 (MONDO:NORD)
  • NANDO:1201051 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:140997 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • MESH:D009958 (MONDO:equivalentTo)
  • OMIMPS:311200 (MONDO:equivalentTo)
  • DOID:4501 (MONDO:equivalentTo)
  • UMLS:C0029294 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, disease_grouping, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, 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, ordo_group_of_disorders

abbreviation
OFD [ Orphanet:140997 ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_140997

http://linkedlifedata.com/resource/umls/id/C0029294

http://purl.obolibrary.org/obo/DOID_4501

https://omim.org/phenotypicSeries/PS311200

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1405407847

http://identifiers.org/medgen/14518

http://identifiers.org/snomedct/52868006

http://identifiers.org/mesh/D009958

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015501

has related synonym

orofaciodigital syndromes

oral-facial-digital syndromes

oral facial digital syndromes

id

MONDO:0015375

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml