Online Mendelian Inheritance in Man - AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/601859 http://purl.bioontology.org/ontology/OMIM/601859
Preferred Name	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Synonyms	ALPS1B AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB ALPS1A AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA CANALE-SMITH SYNDROME AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ALPS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ALPS1B AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB ALPS1A AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA CANALE-SMITH SYNDROME AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ALPS See more See less
prefLabel	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Gene Symbol	TNFSF6 FASL APT1LG1 ALPS1B FASLG
notation	601859
Scope Statement	Caused by mutation in the Fas antigen gene (FAS, 134637.0001) [MOLECULAR BASIS] Onset in early childhood [MISCELLANEOUS] Caused by mutation in the Fas ligand gene (FASL, 134638.0001) [MOLECULAR BASIS] Recessive inheritance has been reported [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004960 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU038547 http://purl.bioontology.org/ontology/OMIM/MTHU004954 http://purl.bioontology.org/ontology/OMIM/MTHU004970 http://purl.bioontology.org/ontology/OMIM/MTHU002424 http://purl.bioontology.org/ontology/OMIM/MTHU037793 http://purl.bioontology.org/ontology/OMIM/MTHU004957 http://purl.bioontology.org/ontology/OMIM/MTHU004956 http://purl.bioontology.org/ontology/OMIM/MTHU004959 http://purl.bioontology.org/ontology/OMIM/MTHU004948 http://purl.bioontology.org/ontology/OMIM/MTHU004949 http://purl.bioontology.org/ontology/OMIM/MTHU004950 http://purl.bioontology.org/ontology/OMIM/MTHU004955 http://purl.bioontology.org/ontology/OMIM/MTHU004952 http://purl.bioontology.org/ontology/OMIM/MTHU004953 http://purl.bioontology.org/ontology/OMIM/MTHU004966 http://purl.bioontology.org/ontology/OMIM/MTHU036458 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU004967 http://purl.bioontology.org/ontology/OMIM/MTHU004944 http://purl.bioontology.org/ontology/OMIM/MTHU004958 http://purl.bioontology.org/ontology/OMIM/MTHU005684 http://purl.bioontology.org/ontology/OMIM/MTHU004951 http://purl.bioontology.org/ontology/OMIM/MTHU005685 http://purl.bioontology.org/ontology/OMIM/MTHU004946 http://purl.bioontology.org/ontology/OMIM/MTHU004945 http://purl.bioontology.org/ontology/OMIM/MTHU004968 http://purl.bioontology.org/ontology/OMIM/MTHU004961 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	1q23
tui	T047
cui	C1328840 C1866121 C1866119 C1866120

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