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short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes.
Mondo Term and Equivalent IDs
MONDO:0011227: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Download Data for short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
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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.
MESH:C566544
OMIM:602471
Orphanet:397623
SCTID:417081007
UMLS:C1865361
MONDO:0011227
High level summary of knowledge for a disease, including descriptions and datasource references.