MCID: TRN055
MIFTS: 20

Turner Syndrome Due to Structural X Chromosome Anomalies

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Turner Syndrome Due to Structural X Chromosome Anomalies

MalaCards integrated aliases for Turner Syndrome Due to Structural X Chromosome Anomalies:

Name: Turner Syndrome Due to Structural X Chromosome Anomalies 60

Classifications:



Summaries for Turner Syndrome Due to Structural X Chromosome Anomalies

MalaCards based summary : Turner Syndrome Due to Structural X Chromosome Anomalies Affiliated tissues include skin, kidney and thyroid, and related phenotypes are short neck and osteopenia

Related Diseases for Turner Syndrome Due to Structural X Chromosome Anomalies

Diseases in the Turner Syndrome family:

Pseudo-Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies

Symptoms & Phenotypes for Turner Syndrome Due to Structural X Chromosome Anomalies

Human phenotypes related to Turner Syndrome Due to Structural X Chromosome Anomalies:

60 33 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
3 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
6 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
7 increased circulating gonadotropin level 60 33 hallmark (90%) Very frequent (99-80%) HP:0000837
8 short sternum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000879
9 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
10 cubitus valgus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002967
11 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
12 aplasia/hypoplasia of the nipples 60 33 hallmark (90%) Very frequent (99-80%) HP:0006709
13 premature ovarian insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0008209
14 female infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0008222
15 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
16 increased upper to lower segment ratio 60 33 hallmark (90%) Very frequent (99-80%) HP:0012774
17 high urinary gonadotropin level 33 hallmark (90%) HP:0003492
18 abnormal forearm bone morphology 33 hallmark (90%) HP:0040073
19 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
20 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
21 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
22 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
23 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
24 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
25 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
26 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
27 recurrent otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000403
28 webbed neck 60 33 frequent (33%) Frequent (79-30%) HP:0000465
29 thickened nuchal skin fold 60 33 frequent (33%) Frequent (79-30%) HP:0000474
30 broad neck 60 33 frequent (33%) Frequent (79-30%) HP:0000475
31 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
32 impaired use of nonverbal behaviors 60 33 frequent (33%) Frequent (79-30%) HP:0000758
33 primary amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000786
34 secondary amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000869
35 hashimoto thyroiditis 60 33 frequent (33%) Frequent (79-30%) HP:0000872
36 shield chest 60 33 frequent (33%) Frequent (79-30%) HP:0000914
37 specific learning disability 60 33 frequent (33%) Frequent (79-30%) HP:0001328
38 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
39 failure to thrive in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0001531
40 hypoplastic toenails 60 33 frequent (33%) Frequent (79-30%) HP:0001800
41 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
42 high, narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0002705
43 elevated hepatic transaminase 60 33 frequent (33%) Frequent (79-30%) HP:0002910
44 dermatoglyphic ridges abnormal 60 33 frequent (33%) Frequent (79-30%) HP:0005689
45 enlargement of the distal femoral epiphysis 60 33 frequent (33%) Frequent (79-30%) HP:0006438
46 irregular proximal tibial epiphyses 60 33 frequent (33%) Frequent (79-30%) HP:0006456
47 neck pterygia 60 33 frequent (33%) Frequent (79-30%) HP:0009759
48 short 4th metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010044
49 short 5th metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010047
50 hypermobility of toe joints 60 33 frequent (33%) Frequent (79-30%) HP:0010510

Drugs & Therapeutics for Turner Syndrome Due to Structural X Chromosome Anomalies

Search Clinical Trials , NIH Clinical Center for Turner Syndrome Due to Structural X Chromosome Anomalies

Genetic Tests for Turner Syndrome Due to Structural X Chromosome Anomalies

Anatomical Context for Turner Syndrome Due to Structural X Chromosome Anomalies

MalaCards organs/tissues related to Turner Syndrome Due to Structural X Chromosome Anomalies:

42
Skin, Kidney, Thyroid, Eye, Ovary

Publications for Turner Syndrome Due to Structural X Chromosome Anomalies

Variations for Turner Syndrome Due to Structural X Chromosome Anomalies

Expression for Turner Syndrome Due to Structural X Chromosome Anomalies

Search GEO for disease gene expression data for Turner Syndrome Due to Structural X Chromosome Anomalies.

Pathways for Turner Syndrome Due to Structural X Chromosome Anomalies

GO Terms for Turner Syndrome Due to Structural X Chromosome Anomalies

Sources for Turner Syndrome Due to Structural X Chromosome Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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