MCID: SPN339
MIFTS: 4

Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome

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

Aliases & Classifications for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

MalaCards integrated aliases for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome:

Name: Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 ORPHA329252

Summaries for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

MalaCards based summary : Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome Affiliated tissues include bone.

Related Diseases for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Symptoms & Phenotypes for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Drugs & Therapeutics for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome

Genetic Tests for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Anatomical Context for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

MalaCards organs/tissues related to Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome:

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Bone

Publications for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Variations for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Expression for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Search GEO for disease gene expression data for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome.

Pathways for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

GO Terms for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Sources for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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