Human Phenotype Ontology 
Grandparent Node:
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Abnormality of fluid regulation (HP:0011032)help
Parent Node:
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Abnormality of the cerebrum (HP:0002060)help
Parent Node:
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Edema (HP:0000969)help
..Starting node
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Cerebral edema (HP:0002181)help
Term ID: 2181
Name: Cerebral edema
Synonym: Brain edema; Brain oedema; Brain swelling; Swelling of brain
Definition: Abnormal accumulation of fluid in the brain.
Comments:
Reference: HP:0002181
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAngioedema (HP:0100665) help
..expandCorneal stromal edema (HP:0012040) help
..expandEdema of the dorsum of feet (HP:0012098) help
..expandEdema of the dorsum of hands (HP:0007514) help
..expandEdema of the upper limbs (HP:0010742) help
..expandFacial edema (HP:0000282) help
..expandGeneralized edema (HP:0007430) help
..expandGenital edema (HP:0031188) help
..expandHydrops fetalis (HP:0001789) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHypoproteinemic edema (HP:0007609) help
..expandIncreased nuchal translucency (HP:0010880) help
..expandIntestinal edema (HP:0005225) help
..expandJoint swelling (HP:0001386) help
..expandLaryngeal edema (HP:0012027) help
..expandLymphedema (HP:0001004) help
..expandMacular edema (HP:0040049) help
..expandMuscular edema (HP:0100748) help
..expandPeau d'orange (HP:0025533) help
..expandPedal edema (HP:0010741) help
..expandPeripheral edema (HP:0012398) help
..expandPharyngeal edema (HP:0011855) help
..expandPleural effusion (HP:0002202) help
..expandPulmonary edema (HP:0100598) help
..expandTongue edema (HP:0040315) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002181HP:0002181Cerebral edema0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0002181HP:0002181Cerebral edema0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117148889607008
HP:0002181HP:0002181Cerebral edema0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169418746608310
HP:0002181HP:0002181Cerebral edema0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157472758603470
HP:0002181HP:0002181Cerebral edema0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101379986608348
HP:0002181HP:0002181Cerebral edema0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115447987248611
HP:0002181HP:0002181Cerebral edema0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12768072323608307
HP:0002181HP:0002181Cerebral edema0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1784652698248610
HP:0002181HP:0002181Cerebral edema0KCNQ2 CL E G H3785439218ORPHA131413386296602235
HP:0002181HP:0002181Cerebral edema0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA138022816482156225
HP:0002181HP:0002181Cerebral edema0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1105518453608862
HP:0002181HP:0002181Cerebral edema0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0002181HP:0002181Cerebral edema0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM15277398512300461
HP:0002181HP:0002181Cerebral edema0RANBP2 CL E G H590388619ORPHA186849848601181
HP:0002181HP:0002181Cerebral edema0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM111538610983603859
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002181HP:0002181Cerebral edema0ACAD9 CL E G H2897699901ORPHA06142021497611103


Genes (15) :ACAD9 ACADM ASL ASS1 BCKDHA BCKDHB CPS1 DBT KCNQ2 LAMA2 NAXE NDUFS4 OTC RANBP2 SLC25A13

Diseases (14) :99901 611126 201450 207900 215700 248600 237300 439218 258 617186 252010 311250 88619 603471
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.