Medical Subject Headings

Last uploaded: August 28, 2024
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Preferred Name

Histidinemia
Synonyms

Hyperhistidinemia

Histidase deficiency

HAL Deficiency

Histidine ammonia-lyase deficiency

Deficiency in Histidase
ID

http://purl.bioontology.org/ontology/MESH/C538320
altLabel

Hyperhistidinemia

Histidase deficiency

HAL Deficiency

Histidine ammonia-lyase deficiency

Deficiency in Histidase
cui

C0220992
Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000172
HM

D006638/Q000172

D000592
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D006638

http://purl.bioontology.org/ontology/MESH/D000592
MDA

20100825
MeSH Frequency

16
MMR

20190624
notation

C538320
prefLabel

Histidinemia
SC

3
Scope Statement

A hereditary metabolic disorder characterized by increased levels of HISTIDINE in the blood, urine, and cerebrospinal fluid. It is generally benign, but some individuals may be at increased risk for intellectual disability. It is caused by mutations in the histidine ammonia-lyase (HAL) gene. OMIM: 235800.
TERMUI

T745431

T845812

T745432

T841667

T745435

T824887
TH

OMIM (2013)

GHR (2014)

ORD (2010)
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/CSP/1849-0778 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/124628005 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/235800 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124628005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/410058007 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.41 ICD10CM CUI
http://purl.bioontology.org/ontology/LNC/LA12498-4 LOINC CUI
http://purl.bioontology.org/ontology/CSP/1849-0778 CRISP CUI
http://purl.bioontology.org/ontology/RCD/C3050 RCD CUI
http://purl.bioontology.org/ontology/OMIM/609457 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D6-A3110 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/410058007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-0778 CRISP LOOM
http://purl.obolibrary.org/obo/MONDO_0009345 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0060168 DOID LOOM
http://identifiers.org/omim/235800 REXO LOOM
http://identifiers.org/omim/235800 GEXO LOOM
http://identifiers.org/omim/235800 RETO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15084 DERMLEX LOOM
http://purl.obolibrary.org/obo/DOID_0060168 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060168 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060168 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060168 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060168 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0009345 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009345 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009345 EFO LOOM
http://purl.bioontology.org/ontology/OMIM/235800 OMIM LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.41 ICD10CM LOOM
http://purl.bioontology.org/ontology/LNC/LA12498-4 LOINC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3355 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/1849-0778 CRISP LOOM
http://purl.jp/bio/4/id/200906050545373096 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_2157 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538320 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_235800 CCO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/410058007 SNOMEDCT LOOM