Jump to:
loading...
Preferred Name

Hartnup disease
Synonyms

neutral amino acid transport defect
Definitions

disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium.
ID

http://purl.bioontology.org/ontology/CSP/1849-4235
altLabel

neutral amino acid transport defect
cui

C0018609
definition

disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium.
DID

1849-4235
Inverse of RB

http://purl.bioontology.org/ontology/CSP/1849-1462
notation

1849-4235
prefLabel

Hartnup disease
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/1849-1462
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/608893 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D006250 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/80902009 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D006250 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/124208000 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001414 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10019165 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10019165 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/234500 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.02 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/C3004 RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-B8400 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/80902009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10019165 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124208000 SNOMEDCT CUI
http://purl.obolibrary.org/obo/DOID_1060 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0009324 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009324 EFO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1060 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0018609 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D006250 MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009324 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009324 KTAO LOOM
http://purl.jp/bio/4/id/200906092107936279 IOBC LOOM
http://id.nlm.nih.gov/mesh/D006250 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.151.355 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C300400 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hartnup_Disease CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5805 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.861.885.457 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.355 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200487 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038498 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.355 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_1060 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1060 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1060 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1060 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1060 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84748 BERO LOOM
http://purl.obolibrary.org/obo/DERMO_0000541 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.355 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84748 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.815.885.457 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.151.355 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14436 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.355 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.815.885.625 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10019165 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_2116 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0007423 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006250 RH-MESH LOOM