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: chromosome X structural anomaly (MONDO:0020062)
Parent Node: female infertility due to an anomaly of ovarian function of genetic origin (MONDO:0018413)
Parent Node: inherited primary ovarian failure (MONDO:0019852)
..Starting node ..X small rings ()
Child Nodes:
Sister Nodes:
..46 XX gonadal dysgenesis ()
..46,XX ovarian dysgenesis-short stature syndrome ()
..aromatase deficiency ()
..ataxia telangiectasia ()
..blepharophimosis, ptosis, and epicanthus inversus syndrome ()
..classic galactosemia ()
..congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ()
..congenital lipoid adrenal hyperplasia due to STAR deficency ()
..microcephalic primordial dwarfism-insulin resistance syndrome ()
..osteosclerosis-ichthyosis-premature ovarian failure syndrome ()
..Perrault syndrome ()
..premature ovarian failure 1 ()
..premature ovarian failure 11 ()
..premature ovarian failure 12 ()
..premature ovarian failure 2A ()
..premature ovarian failure 2B ()
..premature ovarian failure 3 ()
..premature ovarian failure 5 ()
..premature ovarian failure 6 ()
..premature ovarian failure 7 ()
..premature ovarian failure 8 ()
..premature ovarian failure 9 ()
..Satoyoshi syndrome ()
..tetrasomy X ()
..trisomy X ()
..Turner syndrome ()
..X small rings ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19926
Name:	X small rings
Definition:	X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal