Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Synonyms	ALPS1B
ID	http://purl.bioontology.org/ontology/OMIM/601859
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
cui	C1328840 C1866121 C1866119 C1866120
Gene Locus	1q23
Gene Symbol	TNFSF6 FASL APT1LG1 ALPS1B FASLG
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
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601859
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
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]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D056735	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/C566615	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C566613	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C566614	MESH	CUI
http://purl.bioontology.org/ontology/ICD10CM/D89.82	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10069521	MDRFRE	CUI
http://purl.bioontology.org/ontology/CSP/4000-0238	CRISP	CUI
http://purl.bioontology.org/ontology/SCTSPA/702444009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10069521	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/1560-5548	CRISP	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181216	NDFRT	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000739826	PDQ	CUI
http://purl.bioontology.org/ontology/CSP/0427-1178	CRISP	CUI
http://purl.bioontology.org/ontology/ICD9CM/279.41	ICD9CM	CUI
http://purl.bioontology.org/ontology/MESH/D056735	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/702444009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10069521	MEDDRA	CUI
http://purl.obolibrary.org/obo/MONDO_0017979	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017979	EFO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.515.138	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037428	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/NCIT_C37864	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017979	DOVES	LOOM
http://purl.jp/bio/4/id/201006089431511795	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.089	RH-MESH	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000739826	PDQ	LOOM
http://nanbyodata.jp/ontology/NANDO_1200352	NANDO	LOOM
http://purl.bioontology.org/ontology/ICD9CM/279.41	ICD9CM	LOOM
http://purl.bioontology.org/ontology/ICD9CM/279.41	NLMVS	LOOM
http://purl.obolibrary.org/obo/OMIT_0026704	OMIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37864	NCIT	LOOM
http://www.orpha.net/ORDO/Orphanet_3261	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/D056735	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/702444009	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069521	MEDDRA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.111.288	RH-MESH	LOOM
http://nanbyodata.jp/ontology/NANDO_2200726	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.683.515.124	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056735	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3468	HRDO	LOOM
http://purl.obolibrary.org/obo/DOID_6688	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_6688	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_6688	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_6688	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_6688	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_6688	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_6688	FNS-H	LOOM