Preferred Name

INOSINE TRIPHOSPHATASE

Synonyms

INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE

ID

http://purl.bioontology.org/ontology/OMIM/147520

altLabel

INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE

INOSINE TRIPHOSPHATASE DEFICIENCY

ITPA

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35

cui

C1416514

C4225256

C0342800

Gene Locus

20p

Gene Symbol

DEE35

ITPA

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/147520.0001

http://purl.bioontology.org/ontology/OMIM/147520.0002

http://purl.bioontology.org/ontology/OMIM/147520.0006

http://purl.bioontology.org/ontology/OMIM/147520.0003

http://purl.bioontology.org/ontology/OMIM/147520.0004

http://purl.bioontology.org/ontology/OMIM/147520.0005

MIMTYPEMEANING

Gene with known sequence

notation

147520

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

INOSINE TRIPHOSPHATASE

tui

T028

T047

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http://purl.bioontology.org/ontology/LNC/LP270305-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C564127 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_284116 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C021447 Medical Subject Headings / 医学主题词表 LOOM