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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandFacies (D019066)
Parent Node:
expandHydrops Fetalis (D015160)
..Starting node
..expandHydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)

       Child Nodes:



 Sister Nodes: 
..expandDehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..expandGREENBERG DYSPLASIA (OMIM:215140)
..expandHydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)
..expandNuchal bleb, familial (C537852)
..expandXerocytosis, hereditary (C536764)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5321
Name:Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D015160|MESH:D019066
TreeNumbers:C13.703.277.060.480/C567731 |C15.378.295.480/C567731 |C15.378.420.826.100.350/C567731 |C16.131.077/C567731 |C16.300.060.480/C567731 |C16.320.365.826.100.350/C567731 |C20.306.480/C567731 |C23.550.291.812/C567731 |C23.888.277.395/C567731
Synonyms:
Slim Mappings:Blood disease|Congenital abnormality|Fetal disease|Genetic disease (inborn)|Immune system disease|Pathology (process)|Pregnancy complication|Signs and symptoms
Reference: MedGen: C567731
MeSH: C567731
OMIM: 613124;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000835Adrenal hypoplasia
3 HP:0000463Anteverted nares
4 HP:0001790Nonimmune hydrops fetalis
5 HP:0001561Polyhydramnios
6 HP:0002089Pulmonary hypoplasia
7 HP:0005257Thoracic hypoplasia
8 HP:0009824Upper limb undergrowth
Disease Causing ClinVar Variants