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:
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Congenital Abnormalities (D000013)
Parent Node:
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Hydrocephalus (D006849)
Parent Node:
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Mental Disorders (D001523)
..Starting node
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Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)

       Child Nodes:



 Sister Nodes: 
..expandAdjustment Disorders (D000275)
..expandAnxiety Disorders (D001008) Child15
..expandChromosome 18 Pericentric Inversion (C563734)
..expandDelirium, Dementia, Amnestic, Cognitive Disorders (D019965) Child100
..expandDissociative Disorders (D004213) Child1
..expandEating Disorders (D001068) Child6
..expandEpilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..expandFactitious Disorders (D005162) Child3
..expandFragile Site 16p12 (C565001)
..expandHydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..expandImpulse Control Disorders (D007174) Child4
..expandMental Disorders Diagnosed in Childhood (D019952) Child693
..expandMood Disorders (D019964) Child23
..expandMyoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..expandNeurotic Disorders (D009497)
..expandPersonality Disorders (D010554) Child12
..expandRenal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
..expandSchizophrenia and Disorders with Psychotic Features (D019967) Child15
..expandSexual and Gender Disorders (D019968) Child123
..expandSleep Disorders (D012893) Child41
..expandSomatoform Disorders (D013001) Child4
..expandSpongiform Encephalopathy with Neuropsychiatric Features (C564678)
..expandSubstance-Related Disorders (D019966) Child38
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5309
Name:Hydrocephalus, Skeletal Anomalies, and Mental Disturbance
Definition:
Alternative IDs:
ParentIDs:MESH:D000013|MESH:D001523|MESH:D006849
TreeNumbers:C10.228.140.602/C563413 |C10.228.140.631.450/C563413 |C16.131/C563413 |F03/C563413
Synonyms:
Slim Mappings:Congenital abnormality|Mental disorder|Nervous system disease
Reference: MedGen: C563413
MeSH: C563413
OMIM: 600991;

Genes:
Phenotypes
1 HP:0002500Abnormal cerebral white matter morphology
2 HP:0000463Anteverted naresHP:0040283
3 HP:0100702Arachnoid cystHP:0040283
4 HP:0001156Brachydactyly
5 HP:0000414Bulbous noseHP:0040283
6 HP:0002194Delayed gross motor developmentHP:0040283
7 HP:0005280Depressed nasal bridgeHP:0040283
8 HP:0006297Enamel hypoplasiaHP:0040283
9 HP:0000286EpicanthusHP:0040283
10 HP:0001263Global developmental delay
11 HP:0000348High foreheadHP:0040283
12 HP:0000218High palate
13 HP:0000238Hydrocephalus
14 HP:0000316Hypertelorism
15 HP:0001249Intellectual disabilityHP:0040283
16 HP:0002751Kyphoscoliosis
17 HP:0000369Low-set earsHP:0040283
18 HP:0000272Malar flatteningHP:0040283
19 HP:0000303Mandibular prognathia
20 HP:0000709Psychosis
21 HP:0001852Sandal gapHP:0040283
22 HP:0000912Sprengel anomaly
23 HP:0000431Wide nasal bridgeHP:0040283
Disease Causing ClinVar Variants