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 59

Characteristics:

Orphanet epidemiological data:

59
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 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
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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