acromesomelic dysplasia, Maroteaux type
acromesomelic dysplasia that has material basis in mutation in NPR-B receptor which results in severe dwarfism, abnormalities of the located in vertebral column and shortening of middle and distal segments in the located in limb
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Summary
acromesomelic dysplasia, Maroteaux type is a rare disease[1]. It is known by 8 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: acromesomelic dysplasia[4], autosomal recessive disease[5], spinal disease[6]
- Prevalence: 0.000001[7]
- Genetic association: NPR2[8]
- Age of onset: infantile onset[9], neonatal onset[10]
- Exact match: http://purl.obolibrary.org/obo/DOID_0080050[11], http://identifiers.org/doid/DOID:0080050[12], http://www.orpha.net/ORDO/Orphanet_40[13]
- On focus list of Wikimedia project: WikiProject Medicine[14]
- Has phenotype: dolichocephaly[15], Sprengel's deformity[16], brachydactyly[17], joint hypermobility[18], joint stiffness[19], skull bossing[20], scoliosis[21], abnormal kyphosis[22], abnormal lordosis[23], Anterior bowing of long bones[24], wedge shaped vertebra[25]
- P14914: D00040[26]