MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: genetic lipodystrophy (MONDO:0020087)
Parent Node: primary osteolysis (MONDO:0019707)
Parent Node: progeroid syndrome (MONDO:0015333)
..Starting node ..mandibuloacral dysplasia ()
Child Nodes:
........mandibuloacral dysplasia with type A lipodystrophy ()
........mandibuloacral dysplasia with type B lipodystrophy ()
Sister Nodes:
..acquired partial lipodystrophy ()
..acroosteolysis-keloid-like lesions-premature aging syndrome ()
..atypical Werner syndrome ()
..Berardinelli-Seip congenital lipodystrophy ()
..Cockayne syndrome ()
..Donohue syndrome ()
..familial partial lipodystrophy, Dunnigan type ()
..lipodystrophy-intellectual disability-deafness syndrome ()
..mandibular hypoplasia-deafness-progeroid syndrome ()
..mandibuloacral dysplasia ()
..Ogden syndrome ()
..PCNA-related progressive neurodegenerative photosensitivy syndrome ()
..progeria ()
..progeria-short stature-pigmented nevi syndrome ()
..progeroid features-hepatocellular carcinoma predisposition syndrome ()
..progeroid syndrome, Petty type ()
..pseudoprogeria syndrome ()
..Rothmund-Thomson syndrome ()
..SHORT syndrome ()
..Werner syndrome ()
..xeroderma pigmentosum ()
..xeroderma pigmentosum-Cockayne syndrome complex ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16584
Name:	mandibuloacral dysplasia
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.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	MAD; mandibuloacral dysplasia with lipodystrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal