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: malformation syndrome with odontal and/or periodontal component (MONDO:0015336)
Parent Node: rare disease with glaucoma as a major feature (MONDO:0020222)
Parent Node: syndromic microphthalmia (MONDO:0016073)
..Starting node ..oculofaciocardiodental syndrome ()
Child Nodes:
Sister Nodes:
..anophthalmia/microphthalmia-esophageal atresia syndrome ()
..behrens baumann dust syndrome ()
..COFS syndrome ()
..colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome ()
..colobomatous microphthalmia-rhizomelic dysplasia syndrome ()
..Matthew-wood syndrome ()
..microphthalmia microtia fetal akinesia ()
..microphthalmia with brain and digit anomalies ()
..microphthalmia with linear skin defects syndrome ()
..microphthalmia, Lenz type ()
..microphthalmia, syndromic 11 ()
..microphthalmia, syndromic 12 ()
..microphthalmia, syndromic 2 ()
..microphthalmia-ankyloblepharon-intellectual disability syndrome ()
..microphthalmia-brain atrophy syndrome ()
..MMEP syndrome ()
..oculoauricular syndrome ()
..oculofaciocardiodental syndrome ()
..syndromic microphthalmia type 5 ()
..Warburg micro syndrome ()
..X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17125
Name:	oculofaciocardiodental syndrome
Definition:	Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	ANOP2 (formerly); cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2 (formerly); microphthalmia cataracts radiculomegaly and septal heart defects; microphthalmia syndromic 2; OFCD syndrome; syndromic microphthalmia type 2
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal