MCID: SPR107
MIFTS: 8

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 59

Characteristics:

Orphanet epidemiological data:

59
sparse hair-short stature-skin anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA79132

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
2 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
3 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
4 mild short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003502
5 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
6 short thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009778
7 single median maxillary incisor 59 32 frequent (33%) Frequent (79-30%) HP:0006315
8 abnormality of the skin 59 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:

41
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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