Achondroplasia
It is inherited as an autosomal dominant disease with essentially complete penetrance.[ncbi.nlm.nih.gov]
Achondroplasia is inherited as an autosomal dominant with essentially complete penetrance. [2] Patients demonstrate unique radioclinical features that are readily detectable[doi.org]
Exostosis
Risk factors Inheritance is autosomal dominant, with near-complete penetrance.[patient.info]
Gorlin Syndrome
Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity.[ncbi.nlm.nih.gov]
This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity.[moh-it.pure.elsevier.com]
[…] with complete penetrance and variable expressivity.[ncbi.nlm.nih.gov]
Holt Oram Syndrome
In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted[ncbi.nlm.nih.gov]
Holt-Oram Syndrome is an autosomal dominant condition with complete penetrance and which involves upper limb skeletal and cardiac abnormalities.[ncbi.nlm.nih.gov]
The Holt-Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene[ncbi.nlm.nih.gov]
Calcium Pyrophosphate Arthropathy
Some cases are familial, usually transmitted in an autosomal dominant pattern, with complete penetration by age 40.[merckmanuals.com]
Alzheimer Disease
OBJECTIVE: To perform PGD for early-onset Alzheimer disease (AD), determined by nearly completely penetrant autosomal dominant mutation in the amyloid precursor protein (APP[ncbi.nlm.nih.gov]
Autosomal Dominant Prognathism
dominant disorder with complete penetrance and variable expressivity.[mjdrdypu.org]
Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity.[dolphintherapy.eu]
Most striking characteristic is melanotic macular pigmentation on eyes, nose and mouth, Lips, Buccal mucosa of 98% pt (diminishes w/age) Autosomal Dominant Inheritance, complete[quizlet.com]
Malignant Esophageal Neoplasm
It may also be referred to as hyperkeratosis palmaris et plantaris or Howel–Evans syndrome, is inherited in an autosomal dominant manner and has complete penetrance [Blaydon[symptoma.com]
Familial Adenomatous Polyposis
FAP is an autosomal dominant inherited disease with near complete penetrance.[clinicaladvisor.com]
Familial polyposis syndromes have autosomal dominant inheritance with almost complete penetrance but marked variation in expression.[patient.info]
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with near complete penetrance whereby hundreds to thousands of polyps develop in the colon.[clinicaladvisor.com]
Fibrodysplasia Ossificans Progressiva
Abstract Fibrodysplasia Ossificans Progressiva (FOP) is a rare hereditary connective tissue disease, genetically inherited as an autosomal dominant trait with complete penetrance[ncbi.nlm.nih.gov]
The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity.[ncbi.nlm.nih.gov]