Preferred Name |
Achondroplasia |
|
Synonyms |
ACH |
|
Definitions |
(ACH) - A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. |
|
ID |
http://identifiers.org/omim/100800 |
|
altLabel |
ACH |
|
definition |
(ACH) - A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. |
|
id |
OMIM:100800 |
|
notation |
OMIM:100800 |
|
prefLabel |
Achondroplasia |
|
subClassOf |
Create mapping