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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Mandibuloacral dysplasia with type A lipodystrophy | |
| Synonyms |
Craniomandibular Dermatodysostosis Lipodystrophy, type A, associated with mandibuloacral dysplasia Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical |
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| ID |
http://purl.bioontology.org/ontology/MESH/C535705 |
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| altLabel |
Craniomandibular Dermatodysostosis Lipodystrophy, type A, associated with mandibuloacral dysplasia Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical
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| cui |
C5399785
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| Has mapping qualifier | ||
| HM |
D008060 D030981 D008334/Q000002
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| Inverse of RB |
0
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| Mapped to |
http://purl.bioontology.org/ontology/MESH/D030981 |
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| MDA |
20100825
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| MeSH Frequency |
22
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| MMR |
20160929
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| notation |
C535705
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| prefLabel |
Mandibuloacral dysplasia with type A lipodystrophy
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| SC |
3
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| Scope Statement |
An autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. It is associated with mutations in the LMNA gene. OMIM: 248370
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| TERMUI |
T801942 T832795 T736941 T736943
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| TH |
OMIM (2013) ORD (2010)
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| tui |
T047
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