| D000130 |
Achondroplasia |
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) |
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,SADDAN,SADDAN Dysplasia,Skeleton-Skin-Brain Syndrome,Achondroplasias,Dysplasia, SADDAN,Dysplasias, SADDAN,SADDAN Dysplasias,SADDANs,Skeleton Skin Brain Syndrome,Skeleton-Skin-Brain Syndromes,Syndrome, Skeleton-Skin-Brain,Syndromes, Skeleton-Skin-Brain |
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| D014426 |
Turtles |
Any reptile including tortoises, fresh water, and marine species of the order Testudines with a body encased in a bony or cartilaginous shell consisting of a top (carapace) and a bottom (plastron) derived from the ribs. |
Sea Turtles,Terrapins,Tortoises,Sea Turtle,Terrapin,Tortoise,Turtle,Turtle, Sea,Turtles, Sea |
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