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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCerebellar Diseases (D002526)
Parent Node:
expandEncephalocele (D004677)
Parent Node:
expandMeningocele (D008588)
Parent Node:
expandPolycystic Kidney Diseases (D007690)
Parent Node:
expandSmith-Lemli-Opitz Syndrome (D019082)
..Starting node
..expandCerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)

       Child Nodes:



 Sister Nodes: 
..expandCerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1930
Name:Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002526|MESH:D004677|MESH:D007690|MESH:D008588|MESH:D019082
TreeNumbers:C10.228.140.252/C565867 |C10.500.680.488/C565867 |C10.500.680.598/C565867 |C12.777.419.403.875/C565867 |C13.351.968.419.403.875/C565867 |C16.131.077.860/C565867 |C16.131.666.680.488/C565867 |C16.131.666.680.598/C565867 |C16.320.565.398.850/C565867 |C16.320.565.92
Synonyms:
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C565867
MeSH: C565867
OMIM: 213010;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000079Abnormality of the urinary system
3 HP:0002335Agenesis of cerebellar vermis
4 HP:0002085Occipital encephalocele
5 HP:0001405Periportal fibrosis
6 HP:0100259Postaxial polydactyly
Disease Causing ClinVar Variants