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Orphanet Rare Disease Ontology
| Preferred Name | Mandibuloacral dysplasia | |
| Synonyms |
MAD |
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| Definitions |
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2457 |
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| alternative_term |
MAD
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|
| definition |
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2457 |
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| has_age_of_onset |
Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:608612 UMLS:C0432291 OMIM:248370 ICD-10:Q87.5 ICD-11:LD27.6Z
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| label |
Mandibuloacral dysplasia
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|
| notation |
ORPHA:2457
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| part_of |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_98305 http://www.orpha.net/ORDO/Orphanet_93449 http://www.orpha.net/ORDO/Orphanet_102285 |
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| prefixIRI |
ORDO:Orphanet_2457
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|
| prefLabel |
Mandibuloacral dysplasia
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|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 40.0 (Case)
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| treeView |
http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_98305 http://www.orpha.net/ORDO/Orphanet_93449 http://www.orpha.net/ORDO/Orphanet_102285 |
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| subClassOf |
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