OBO ID: DOID:0081129
Term Name: mandibuloacral dysplasia type B lipodystrophy Search Ontology:
Synonyms:
Definition: A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. https://pubmed.ncbi.nlm.nih.gov/11836320/
References:
Ontology: Human Disease   (DOID:0081129)
OTHER mandibuloacral dysplasia type B lipodystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy 608612
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None