Human Phenotype Ontology 
Grandparent Node:
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Acidosis (HP:0001941)help
Grandparent Node:
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Ketosis (HP:0001946)help
Parent Node:
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Diabetes mellitus (HP:0000819)help
Parent Node:
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Ketoacidosis (HP:0001993)help
..Starting node
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Diabetic ketoacidosis (HP:0001953)help
Term ID: 1953
Name: Diabetic ketoacidosis
Synonym: Diabetic ketosis
Definition: A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
Comments:
Reference: HP:0001953
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEpisodic ketoacidosis (HP:0005974) help
..expandMetabolic ketoacidosis (HP:0005979) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001953HP:0001953Diabetic ketoacidosis0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare245
HP:0001953HP:0001953Diabetic ketoacidosis0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0001953HP:0001953Diabetic ketoacidosis0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0001953HP:0001953Diabetic ketoacidosis0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare
HP:0001953HP:0001953Diabetic ketoacidosis0INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0001953HP:0001953Diabetic ketoacidosis0INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0001953HP:0001953Diabetic ketoacidosis0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0001953HP:0001953Diabetic ketoacidosis0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0001953HP:0001953Diabetic ketoacidosis0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare127
HP:0001953HP:0001953Diabetic ketoacidosis0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare
HP:0001953HP:0001953Diabetic ketoacidosis0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0001953HP:0001953Diabetic ketoacidosis0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare30


Genes (10) :ABCC8 CIDEC CLCNKB HYMAI INS INSR KCNJ11 PLAGL1 SLC12A3 ZFP57

Diseases (7) :ORPHA:99886 OMIM:615238 ORPHA:358 OMIM:618858 OMIM:613370 OMIM:262190 ORPHA:769
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.