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Ontology Browser

Term:
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (DOID:9006920)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
epilepsy +     
Macrocephaly +     
polyhydramnios +     
3p deletion syndrome 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
apraxia +   
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Asparagine Synthetase Deficiency  
Au-Kline Syndrome  
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
autosomal recessive spinocerebellar ataxia 12  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Benign Familial Macrocephaly 
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Bowen-Conradi syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
C syndrome  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Childhood-Onset Chorea with Psychomotor Retardation  
Christianson syndrome  
chromosome 17q11.2 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
Chronic Idiopathic Polyhydramnios 
Circumvallate Placenta Syndrome 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Coffin Syndrome 1 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
De Hauwere Leroy Adriaenssens syndrome 
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Drug Resistant Epilepsy +   
Early-Onset Epilepsy, Vitamin B6-Dependent  
Edinburgh Malformation Syndrome 
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
electroclinical syndrome +   
Epilepsy Telangiectasia 
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
extratemporal epilepsy 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Febrile Seizures +   
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Fryns Macrocephaly 
fumarase deficiency  
Generalized Epilepsy +   
Genitopatellar Syndrome  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Glycosylphosphatidylinositol Deficiency +   
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Gurrieri Sammito Bellussi Syndrome 
Harel-Yoon Syndrome  
HEART AND BRAIN MALFORMATION SYNDROME  
Hemimegalencephaly +   
Hot Water Epilepsy +  
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Keppen-Lubinsky Syndrome  
Kifafa Seizure Disorder 
Kniest Like Dysplasia Lethal  
Kohlschutter-Tonz syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Landau-Kleffner syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
MacDermot Winter Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megarbane Syndrome 
MEHMO syndrome  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, X-Linked 93  
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
mitochondrial pyruvate carrier deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myoclonic Epilepsies +   
Neuhauser Syndrome 
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
Ogden syndrome  
Okur-Chung Neurodevelopmental Syndrome  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
PSAT deficiency  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
Pyridoxine-Dependent Epilepsy  
Ramon Syndrome 
Retinal Degeneration and Epilepsy 
Rud Syndrome 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
sepiapterin reductase deficiency  
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Snijders Blok-Campeau Syndrome  
Spinocerebellar Ataxia with Epilepsy  
status epilepticus +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Turner type  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Verheij Syndrome  
visual epilepsy +   
Webb-Dattani Syndrome  
Wittwer Syndrome  
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked VACTERL association  
Zori Stalker Williams Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: PMSE ;   PMSE SYNDROME
Primary IDs: MESH:C567020 ;   RDO:0015209
Alternate IDs: OMIM:611087

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.