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Pfeiffer-Palm-Teller syndrome
Disease Summary
Associated Targets ()
Mondo Description Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
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:0004305
MESH:C537889
OMIM:261560
Orphanet:2871
SCTID:726672000
UMLS:C1849929
MONDO:0009858
High level summary of knowledge for a disease, including descriptions and datasource references.