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:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandImmunologic Deficiency Syndromes (D007153)
Parent Node:
expandMyelodysplastic Syndromes (D009190)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)

       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:7616
Name:Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D007153|MESH:D009190|MESH:D011596|MESH:D019465
TreeNumbers:C05.660.207/C563345 |C10.597.606.881/C563345 |C15.378.190.625/C563345 |C16.131.621.207/C563345 |C20.673/C563345 |C23.550.393/C563345 |C23.888.592.604.882/C563345
Synonyms:
Slim Mappings:Blood disease|Congenital abnormality|Immune system disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C563345
MeSH: C563345
OMIM: 601347;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0004808Acute myeloid leukemia
4 HP:0001903Anemia
5 HP:0001659Aortic regurgitation
6 HP:0001631Atrial septal defect
7 HP:0030037Bifid ureter
8 HP:0002110Bronchiectasis
9 HP:0004325Decreased body weight
10 HP:0008734Decreased testicular size
11 HP:0005280Depressed nasal bridge
12 HP:0002007Frontal bossing
13 HP:0001263Global developmental delay
14 HP:0002721Immunodeficiency
15 HP:0007522Increased number of skin folds
16 HP:0000369Low-set ears
17 HP:0000272Malar flattening
18 HP:0011800Midface retrusion
19 HP:0002863Myelodysplasia
20 HP:0000545Myopia
21 HP:0000160Narrow mouth
22 HP:0001875Neutropenia
23 HP:0011220Prominent forehead
24 HP:0002719Recurrent infections
25 HP:0000322Short philtrum
26 HP:0004322Short stature
27 HP:0002570Steatorrhea
28 HP:0000179Thick lower lip vermilion
29 HP:0000963Thin skin
30 HP:0005180Tricuspid regurgitation
31 HP:0000076Vesicoureteral reflux
Disease Causing ClinVar Variants