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immunoskeletal dysplasia with neurodevelopmental abnormalities
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients.
Mondo Term and Equivalent IDs
MONDO:0044312: immunoskeletal dysplasia with neurodevelopmental abnormalities
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617425
UMLS:C4479452
MONDO:0044312
High level summary of knowledge for a disease, including descriptions and datasource references.