Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEczema (D004485)
Parent Node:
expandFoot Deformities, Congenital (D005532)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)

       Child Nodes:



 Sister Nodes: 
..expandApraxias (D001072) Child10
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHypomyelination, Global Cerebral (C567847)
..expandIchthyosis prematurity syndrome (C536271)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMegarbane syndrome (C536145)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4837
Name:Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Definition:
Alternative IDs:
ParentIDs:MESH:D004485|MESH:D005532|MESH:D006130|MESH:D006228|MESH:D011596
TreeNumbers:C05.330.495/C565528 |C05.390.408/C565528 |C05.660.585.512.380/C565528 |C05.660.585.988.425/C565528 |C10.597.606.881/C565528 |C16.131.621.585.380/C565528 |C16.131.621.585.425/C565528 |C17.800.174.620/C565528 |C17.800.815.620/C565528 |C23.550.393/C565528 |C23.888.59
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C565528
MeSH: C565528
OMIM: 233810;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000750Delayed speech and language development
3 HP:0000964Eczema
4 HP:0001290Generalized hypotonia
5 HP:0001263Global developmental delay
6 HP:0001511Intrauterine growth retardation
7 HP:0000691Microdontia
8 HP:0001338Partial agenesis of the corpus callosum
9 HP:0008897Postnatal growth retardation
10 HP:0000687Widely spaced teeth
Disease Causing ClinVar Variants