MCID: SPR107
MIFTS: 10

Sparse Hair-Short Stature-Skin Anomalies Syndrome

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Sparse Hair-Short Stature-Skin Anomalies Syndrome

MalaCards integrated aliases for Sparse Hair-Short Stature-Skin Anomalies Syndrome:

Name: Sparse Hair-Short Stature-Skin Anomalies Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
sparse hair-short stature-skin anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Sparse Hair-Short Stature-Skin Anomalies Syndrome

MalaCards based summary : Sparse Hair-Short Stature-Skin Anomalies Syndrome Affiliated tissues include skin, and related phenotypes are urticaria and sparse scalp hair

Related Diseases for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Symptoms & Phenotypes for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Human phenotypes related to Sparse Hair-Short Stature-Skin Anomalies Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
2 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
3 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
4 mild short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003502
5 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
6 short thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009778
7 single median maxillary incisor 58 31 frequent (33%) Frequent (79-30%) HP:0006315
8 abnormality of the skin 58 Very frequent (99-80%)

Drugs & Therapeutics for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Search Clinical Trials , NIH Clinical Center for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Genetic Tests for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Anatomical Context for Sparse Hair-Short Stature-Skin Anomalies Syndrome

MalaCards organs/tissues related to Sparse Hair-Short Stature-Skin Anomalies Syndrome:

40
Skin

Publications for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Variations for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Expression for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Search GEO for disease gene expression data for Sparse Hair-Short Stature-Skin Anomalies Syndrome.

Pathways for Sparse Hair-Short Stature-Skin Anomalies Syndrome

GO Terms for Sparse Hair-Short Stature-Skin Anomalies Syndrome

Sources for Sparse Hair-Short Stature-Skin Anomalies Syndrome

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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