Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expand
Cerebral Palsy (D002547)
Parent Node:
expand
Corneal Diseases (D003316)
Parent Node:
expand
Intellectual Disability (D008607)
Parent Node:
expand
Megalencephaly (D058627)
..Starting node
..expand
Neuhauser syndrome (C536143)

       Child Nodes:



 Sister Nodes: 
..expandBagatelle Cassidy syndrome (C537796)
..expandChromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
..expandEhlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFryns Macrocephaly (C563963)
..expandHemimegalencephaly (D065705) Child1
..expandKniest like dysplasia lethal (C537208)
..expandMacrocephaly Autism Syndrome (C565342)
..expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandMacrocephaly, benign familial (C537717)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMegalencephaly cutis marmorata telangiectatica congenita (C536142)
..expandMegalencephaly with Dysmyelination (C565408)
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandNeuhauser syndrome (C536143)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandVater Association With Hydrocephalus (C564752)
..expandZori Stalker Williams syndrome (C536728)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7916
Name:Neuhauser syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002547|MESH:D003316|MESH:D008607|MESH:D058627
TreeNumbers:C05.660.207.536/C536143 |C10.228.140.140.254/C536143 |C10.500.507.400.249/C536143 |C10.597.606.643/C536143 |C11.204/C536143 |C16.131.621.207.532/C536143 |C16.131.666.507.400.249/C536143 |C23.888.592.604.646/C536143 |F03.550.600/C536143
Synonyms:Cerebral palsy-hypotonic seizures-megalcornea syndrome |Megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome |Megalocornea mental retardation syndrome |Megalocornea-Mental Retardation Syndrome |MMR syndrome |Seizures-hypotonic cerebral palsy
Slim Mappings:Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536143
MeSH: C536143
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants