| Disease Browser
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Parent Node:
 Brain Diseases, Metabolic (D001928) | Parent Node:
Cardiomegaly (D006332) | Parent Node:
Metabolism, Inborn Errors (D008661) | Parent Node:
Muscle Hypotonia (D009123) | ..Starting node
.. Ethanolaminosis (C562651)
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Child Nodes:
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Sister Nodes: | ..Allan-Herndon-Dudley syndrome (C537047)
| ..Atonic-Astatic Syndrome of Foerster (C565926)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
| ..Carnitine Acetyltransferase Deficiency (C563249)
| ..Cohen syndrome (C536438)
| ..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
| ..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Emanuel syndrome (C535733)
| ..Ethanolaminosis (C562651)
| ..Fumaric aciduria (C538191)
| ..German Syndrome (C562543)
| ..Grubben de Cock Borghgraef syndrome (C537621)
| ..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
| ..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
| ..Hypotonia, Seizures, And Precocious Puberty (C567566)
| ..Hypotonia-Cystinuria Syndrome (C564710)
| ..Joubert Syndrome 10 (C567582)
| ..Joubert syndrome 3 (C536295)
| ..Joubert syndrome 5 (C537688)
| ..Ketoadipicaciduria (C565453)
| ..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
| ..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
| ..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
| ..Opitz-Kaveggia syndrome (C537923)
| ..Qazi Markouizos syndrome (C536259)
| ..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
| ..Scalp ear nipple syndrome (C536623)
| ..Three M Syndrome 2 (C567862)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 4005 |
| Name: | Ethanolaminosis |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D001928|MESH:D006332|MESH:D008661|MESH:D009123 |
| TreeNumbers: | C10.228.140.163/C562651 |C10.597.613.575/C562651 |C14.280.195/C562651 |C16.320.565/C562651 |C18.452.132/C562651 |C18.452.648/C562651 |C23.300.775.250/C562651 |C23.888.592.608.575/C562651 |
| Synonyms: | Ethanolamine Kinase Deficiency |
| Slim Mappings: | Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms |
| Reference: |
MedGen: C562651
MeSH: C562651
OMIM: 227150;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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