Disease Browser
|
Parent Node: Cerebral Palsy (D002547) | Parent Node: Corneal Diseases (D003316) | Parent Node: Intellectual Disability (D008607) | Parent Node: Megalencephaly (D058627) | ..Starting node ..Neuhauser syndrome (C536143)
| Child Nodes:
|
Sister Nodes: | ..Bagatelle Cassidy syndrome (C537796)
| ..Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
| ..Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
| ..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
| ..Fryns Macrocephaly (C563963)
| ..Hemimegalencephaly (D065705) 1
| ..Kniest like dysplasia lethal (C537208)
| ..Macrocephaly Autism Syndrome (C565342)
| ..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
| ..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
| ..Macrocephaly, benign familial (C537717)
| ..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
| ..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
| ..Megalencephaly with Dysmyelination (C565408)
| ..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
| ..Mental Retardation, X-Linked 93 (C567066)
| ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
| ..Neuhauser syndrome (C536143)
| ..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
| ..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
| ..Vater Association With Hydrocephalus (C564752)
| ..Zori 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 | |
|