MCID: DGT008
MIFTS: 6

Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Categories: Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

MalaCards integrated aliases for Digital Anomalies-Intellectual Disability-Short Stature Syndrome:

Name: Digital Anomalies-Intellectual Disability-Short Stature Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
digital anomalies-intellectual disability-short stature syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA352487
ICD10 via Orphanet 34 Q87.2

Summaries for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

MalaCards based summary : Digital Anomalies-Intellectual Disability-Short Stature Syndrome An important gene associated with Digital Anomalies-Intellectual Disability-Short Stature Syndrome is EBP (EBP, Cholestenol Delta-Isomerase). Affiliated tissues include bone.

Related Diseases for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Symptoms & Phenotypes for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Drugs & Therapeutics for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Search Clinical Trials , NIH Clinical Center for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Genetic Tests for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Anatomical Context for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

MalaCards organs/tissues related to Digital Anomalies-Intellectual Disability-Short Stature Syndrome:

41
Bone

Publications for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Variations for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Expression for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Search GEO for disease gene expression data for Digital Anomalies-Intellectual Disability-Short Stature Syndrome.

Pathways for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

GO Terms for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

Sources for Digital Anomalies-Intellectual Disability-Short Stature Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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