Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
Synonyms

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL

MADA

LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA

CRANIOMANDIBULAR DERMATODYSOSTOSIS
ID

http://purl.bioontology.org/ontology/OMIM/248370
altLabel

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL

MADA

LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA

CRANIOMANDIBULAR DERMATODYSOSTOSIS
cui

C5399785
Gene Locus

1q21.2
Gene Symbol

HGPS

EMD2

LMNA

LMN1

CMD1A

FPLD2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003880

http://purl.bioontology.org/ontology/OMIM/MTHU002713

http://purl.bioontology.org/ontology/OMIM/MTHU011821

http://purl.bioontology.org/ontology/OMIM/MTHU000372

http://purl.bioontology.org/ontology/OMIM/MTHU002039

http://purl.bioontology.org/ontology/OMIM/MTHU011818

http://purl.bioontology.org/ontology/OMIM/MTHU011814

http://purl.bioontology.org/ontology/OMIM/MTHU011816

http://purl.bioontology.org/ontology/OMIM/MTHU002044

http://purl.bioontology.org/ontology/OMIM/MTHU002029

http://purl.bioontology.org/ontology/OMIM/MTHU002024

http://purl.bioontology.org/ontology/OMIM/MTHU011813

http://purl.bioontology.org/ontology/OMIM/MTHU002030

http://purl.bioontology.org/ontology/OMIM/MTHU002042

http://purl.bioontology.org/ontology/OMIM/MTHU000566

http://purl.bioontology.org/ontology/OMIM/MTHU011815

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU002031

http://purl.bioontology.org/ontology/OMIM/MTHU002056

http://purl.bioontology.org/ontology/OMIM/MTHU011817

http://purl.bioontology.org/ontology/OMIM/MTHU011820

http://purl.bioontology.org/ontology/OMIM/MTHU002035

http://purl.bioontology.org/ontology/OMIM/MTHU011823

http://purl.bioontology.org/ontology/OMIM/MTHU011819

http://purl.bioontology.org/ontology/OMIM/MTHU036924

http://purl.bioontology.org/ontology/OMIM/MTHU002032

http://purl.bioontology.org/ontology/OMIM/MTHU072452

http://purl.bioontology.org/ontology/OMIM/MTHU000033

http://purl.bioontology.org/ontology/OMIM/MTHU002043

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU002022

http://purl.bioontology.org/ontology/OMIM/MTHU002040

http://purl.bioontology.org/ontology/OMIM/MTHU002025

http://purl.bioontology.org/ontology/OMIM/MTHU011822

http://purl.bioontology.org/ontology/OMIM/MTHU002027

http://purl.bioontology.org/ontology/OMIM/MTHU002055

http://purl.bioontology.org/ontology/OMIM/MTHU005783
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

611618
notation

248370
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
Scope Statement

Caused by mutation in the lamin A/C gene (LMNA, 150330.0021) [MOLECULAR BASIS]

Genetic heterogeneity (see MADB, 608612) [MISCELLANEOUS]

Allelic disorder to Dunnigan-type familial partial lipodystrophy (151660) [MISCELLANEOUS]

Onset in childhood [MISCELLANEOUS]
tui

T047
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