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:
expandAtaxia (D001259)
Parent Node:
expandDiabetes Mellitus, Type 1 (D003922)
Parent Node:
expandDwarfism (D004392)
Parent Node:
expandGoiter (D006042)
..Starting node
..expandBangstad syndrome (C537902)

       Child Nodes:



 Sister Nodes: 
..expandBangstad syndrome (C537902)
..expandGoiter, Endemic (D006043)
..expandGoiter, Nodular (D006044) Child8
..expandGoiter, Substernal (D006045)
..expandGraves Disease (D006111) Child3
..expandLingual Goiter (D047268)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1144
Name:Bangstad syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001259|MESH:D003922|MESH:D004392|MESH:D006042
TreeNumbers:C05.116.099.343/C537902 |C10.597.350.090/C537902 |C16.320.240/C537902 |C18.452.394.750.124/C537902 |C19.246.267/C537902 |C19.297/C537902 |C19.874.283/C537902 |C20.111.327/C537902 |C23.888.592.350.090/C537902
Synonyms:
Slim Mappings:Endocrine system disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537902
MeSH: C537902
OMIM: 210740;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001090Abnormally large globe
3 HP:0006872Cerebral hypoplasia
4 HP:0000444Convex nasal ridge
5 HP:0000853Goiter
6 HP:0000831Insulin-resistant diabetes mellitus
7 HP:0001249Intellectual disability
8 HP:0000275Narrow face
9 HP:0001322obsolete Brain very small
10 HP:0001876Pancytopenia
11 HP:0008193Primary gonadal insufficiency
12 HP:0002073Progressive cerebellar ataxia
13 HP:0000278Retrognathia
14 HP:0003510Severe short stature
15 HP:0001518Small for gestational age
Disease Causing ClinVar Variants