MCID: XSM001
MIFTS: 13

X Small Rings

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for X Small Rings

Summaries for X Small Rings

MalaCards based summary : X Small Rings Affiliated tissues include bone, and related phenotypes are hypertelorism and short neck

Related Diseases for X Small Rings

Symptoms & Phenotypes for X Small Rings

Human phenotypes related to X Small Rings:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
6 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
7 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
8 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
9 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
10 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
11 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
13 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
14 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
15 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
16 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008209
17 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
18 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
19 bicuspid aortic valve 58 31 hallmark (90%) Very frequent (99-80%) HP:0001647
20 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
21 mitral stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001718
22 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
23 congenital stationary night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007642
24 aortic root aneurysm 58 31 hallmark (90%) Very frequent (99-80%) HP:0002616
25 cutaneous syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0012725
26 upper limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009824
27 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
28 lower limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009816
29 generalized tonic-clonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002069
30 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
31 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
32 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
33 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
34 fetal pyelectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010945
35 tall chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0400000
36 intellectual disability 58 Very frequent (99-80%)
37 seizures 58 Occasional (29-5%)
38 abnormal facial shape 58 Very frequent (99-80%)
39 reduced bone mineral density 58 Very frequent (99-80%)
40 toe syndactyly 58 Very frequent (99-80%)

Drugs & Therapeutics for X Small Rings

Search Clinical Trials , NIH Clinical Center for X Small Rings

Genetic Tests for X Small Rings

Anatomical Context for X Small Rings

MalaCards organs/tissues related to X Small Rings:

40
Bone

Publications for X Small Rings

Variations for X Small Rings

Expression for X Small Rings

Search GEO for disease gene expression data for X Small Rings.

Pathways for X Small Rings

GO Terms for X Small Rings

Sources for X Small Rings

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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