OMOP Concept 37472162
Mandibuloacral dysplasia associated to MTX2
StandardConditionSNOMED1373746006Disorder
Maps from
0
Descendants
0
Valid from
1 Oct 2025
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Mandibuloacral dysplasia associated to MTX2 across source vocabularies.
- displasia acromandibular asociada a MTX2
- displasia acromandibular debida a mutación de gen de metaxina 2
- displasia acromandibular debida a mutación de gen de metaxina 2 (trastorno)
- MADaM - mandibuloacral dysplasia associated to MTX2
- MADaM (mandibuloacral dysplasia associated to MTX2) - displasia acromandibular asociada a MTX2
- Mandibuloacral dysplasia due to metaxin 2 gene mutation
- Mandibuloacral dysplasia due to metaxin 2 gene mutation (disorder)
- Mandibuloacral dysplasia progeroid syndrome
- MDPS - mandibuloacral dysplasia progeroid syndrome
- MDPS (mandibuloacral dysplasia progeroid syndrome) - síndrome progeroide displasia acromandibular
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(73)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of mandible
- 1Congenital dysplasia of limb
- 1Degenerative disorder of extremity
- 1Degenerative skin disorder
- 1Developmental hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Lesion of bone
- 1Lesion of face
- 1Metabolic bone disease
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 1Osteolysis
- 1Premature aging syndrome
- 1Skeletal dysplasia
- 1Structural abnormality of bone of limb
- 2Autosomal hereditary disorder
- 2Congenital anomaly of face bones
- 2Congenital anomaly of jaw
- 2Congenital anomaly of limb
- 2Congenital anomaly of musculoskeletal system
- 2Degenerative disorder
- 2Degenerative disorder of bone
- 2Developmental disorder
- 2Disorder of bone
- 2Disorder of face
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