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:
expandChromosome Deletion (D002872)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)

       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:2298
Name:CHROMOSOME 3pter-p25 DELETION SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002872|MESH:D006130|MESH:D008831|MESH:D011596
TreeNumbers:C05.660.207.620/613792 |C10.500.507.400.500/613792 |C10.597.606.881/613792 |C16.131.077/613792 |C16.131.621.207.620/613792 |C16.131.666.507.400.500/613792 |C23.550.210.050.500.500/613792 |C23.550.393/613792 |C23.888.592.604.882/613792
Synonyms:3p- SYNDROME
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: 613792
MeSH: 613792
OMIM: 613792;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0012210Abnormal renal morphologyHP:0040283
3 HP:0006695Atrioventricular canal defectHP:0040283
4 HP:0000581Blepharophimosis
5 HP:0000248Brachycephaly
6 HP:0000455Broad nasal tip
7 HP:0000028CryptorchidismHP:0040283
8 HP:0005280Depressed nasal bridge
9 HP:0002714Downturned corners of mouth
10 HP:0000286Epicanthus
11 HP:0011968Feeding difficulties
12 HP:0005469Flat occiput
13 HP:0001263Global developmental delay
14 HP:0000365Hearing impairmentHP:0040283
15 HP:0000218High palate
16 HP:0002553Highly arched eyebrow
17 HP:0000316Hypertelorism
18 HP:0001252Hypotonia
19 HP:0000343Long philtrum
20 HP:0009765Low hanging columella
21 HP:0000369Low-set ears
22 HP:0001104Macular hypoplasiaHP:0040283
23 HP:0000252Microcephaly
24 HP:0000347Micrognathia
25 HP:0000629Periorbital fullness
26 HP:0100259Postaxial polydactyly
27 HP:0008897Postnatal growth retardation
28 HP:0004467Preauricular pit
29 HP:0005487Prominent metopic ridge
30 HP:0000426Prominent nasal bridgeHP:0040283
31 HP:0000508Ptosis
32 HP:0000278Retrognathia
33 HP:0000960Sacral dimple
34 HP:0001250SeizureHP:0040283
35 HP:0004322Short stature
36 HP:0001518Small for gestational age
37 HP:0001257Spasticity
38 HP:0000486Strabismus
39 HP:0000664Synophrys
40 HP:0001182Tapered finger
41 HP:0000233Thin vermilion border
42 HP:0000325Triangular face
43 HP:0000243Trigonocephaly
44 HP:0000582Upslanted palpebral fissure
45 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants