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short stature-craniofacial anomalies-genital hypoplasia syndrome
Disease Summary
Associated Targets ()
Mondo Description Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.
Mondo Term and Equivalent IDs
MONDO:0008335: short stature-craniofacial anomalies-genital hypoplasia 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 Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0002605
MESH:C535844
OMIM:177980
Orphanet:2994
SCTID:716090004
UMLS:C1867443
MONDO:0008335
High level summary of knowledge for a disease, including descriptions and datasource references.