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:
expandHydrops Fetalis (D015160)
Parent Node:
expandLymphangioma, Cystic (D018191)
..Starting node
..expandNuchal bleb, familial (C537852)

       Child Nodes:



 Sister Nodes: 
..expandAbdominal cystic lymphangioma (C535553)
..expandNuchal bleb, familial (C537852)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8136
Name:Nuchal bleb, familial
Definition:
Alternative IDs:
ParentIDs:MESH:D015160|MESH:D018191
TreeNumbers:C04.557.375.450.450/C537852 |C13.703.277.060.480/C537852 |C15.378.295.480/C537852 |C15.378.420.826.100.350/C537852 |C16.300.060.480/C537852 |C16.320.365.826.100.350/C537852 |C20.306.480/C537852 |C23.888.277.395/C537852
Synonyms:Cystic hygroma, fetal |Familial nuchal bleb |Fetal cystic hygroma
Slim Mappings:Blood disease|Cancer|Fetal disease|Genetic disease (inborn)|Immune system disease|Pregnancy complication|Signs and symptoms
Reference: MedGen: C537852
MeSH: C537852
OMIM: 257350;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0010878Fetal cystic hygroma
3 HP:0001789Hydrops fetalis
4 HP:0003826Stillbirth
Disease Causing ClinVar Variants