MCID: XSM001
MIFTS: 12

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 coarse facial features and global developmental delay

Related Diseases for X Small Rings

Symptoms & Phenotypes for X Small Rings

Human phenotypes related to X Small Rings:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
7 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
8 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
9 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
10 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
11 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
12 premature ovarian insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008209
13 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
14 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
15 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
16 bicuspid aortic valve 58 31 hallmark (90%) Very frequent (99-80%) HP:0001647
17 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
18 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
19 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
20 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
21 mitral stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001718
22 aortic root aneurysm 58 31 hallmark (90%) Very frequent (99-80%) HP:0002616
23 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
24 congenital stationary night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007642
25 cutaneous syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0012725
26 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
27 lower limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009816
28 upper limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009824
29 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
30 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
31 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
32 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
33 fetal pyelectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010945
34 tall chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0400000
35 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
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%)
41 generalized tonic-clonic seizures 58 Occasional (29-5%)

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
Content
Loading form....