Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEpilepsy (D004827)
Parent Node:
expandMegalencephaly (D058627)
Parent Node:
expandPolyhydramnios (D006831)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)

       Child Nodes:



 Sister Nodes: 
..expandApraxias (D001072) Child10
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHypomyelination, Global Cerebral (C567847)
..expandIchthyosis prematurity syndrome (C536271)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMegarbane syndrome (C536145)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9089
Name:Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Definition:
Alternative IDs:OMIM:611087
ParentIDs:MESH:D004827|MESH:D006831|MESH:D011596|MESH:D058627
TreeNumbers:C05.660.207.536/C567020 |C10.228.140.490/C567020 |C10.500.507.400.249/C567020 |C10.597.606.881/C567020 |C13.703.610/C567020 |C16.131.621.207.532/C567020 |C16.131.666.507.400.249/C567020 |C23.888.592.604.882/C567020
Synonyms:PMSE |PMSE SYNDROME
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pregnancy complication|Signs and symptoms
Reference: MedGen: C567020
MeSH: C567020
OMIM: 611087;

Genes: STRADA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002446Astrocytosis
3 HP:0001631Atrial septal defectHP:0040284
4 HP:0000873Diabetes insipidusHP:0040284
5 HP:0002355Difficulty walking
6 HP:0000297Facial hypotonia
7 HP:0011968Feeding difficulties
8 HP:0001290Generalized hypotonia
9 HP:0001263Global developmental delay
10 HP:0012371Hyperplasia of midfaceHP:0040284
11 HP:0000316HypertelorismHP:0040284
12 HP:0001252HypotoniaHP:0040284
13 HP:0002540Inability to walk
14 HP:0001249Intellectual disability
15 HP:0001388Joint laxityHP:0040283
16 HP:0002003Large foreheadHP:0040284
17 HP:0000276Long faceHP:0040284
18 HP:0000256MacrocephalyHP:0040284
19 HP:0001355Megalencephaly
20 HP:0000121NephrocalcinosisHP:0040284
21 HP:0000194Open mouth
22 HP:0001561PolyhydramniosHP:0040284
23 HP:0001622Premature birthHP:0040284
24 HP:0001250Seizure
25 HP:0000486Strabismus
26 HP:0000179Thick lower lip vermilionHP:0040284
27 HP:0000215Thick upper lip vermilionHP:0040284
28 HP:0002119Ventriculomegaly
29 HP:0000154Wide mouthHP:0040284
30 HP:0000431Wide nasal bridgeHP:0040284
Disease Causing ClinVar Variants