Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Alstrom syndrome
Synonyms

ALMS

Definitions

(ALMS) - A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.

ID

http://identifiers.org/omim/203800

altLabel

ALMS

definition

(ALMS) - A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.

id

OMIM:203800

notation

OMIM:203800

prefLabel

Alstrom syndrome

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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http://identifiers.org/omim/203800 REXO SAME_URI
http://identifiers.org/omim/203800 GEXO SAME_URI
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050473 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_0050473 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050473 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050473 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050473 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050473 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050473 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D056769 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.684.249 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.300.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/63702009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068814 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.684.249 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/203800 OMIM LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_7 HAMIDEHSGH LOOM
urn:agi-folder:alstrom_syndrome BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056769 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.495.099 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.080 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D056769 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alstrom_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C84549 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_203800 CCO LOOM
http://identifiers.org/omim/203800 REXO LOOM
http://identifiers.org/omim/203800 GEXO LOOM
http://purl.obolibrary.org/obo/OMIT_0026725 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.300.099 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PKyF.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/Xa0Zf RCD LOOM
http://purl.jp/bio/4/id/200906048413528967 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.829.800.300.099 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038418 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008763 KTAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.375.099 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268425 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/D6-96300 SNMI LOOM