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: eye disease (MONDO:0005328)
Parent Node: primary bone dysplasia with decreased bone density (MONDO:0019704)
..Starting node ..chondroectodermal dysplasia with night blindness ()
Child Nodes:
Sister Nodes:
..autosomal recessive cutis laxa type 2 ()
..Bruck syndrome ()
..calvarial doughnut lesions-bone fragility syndrome ()
..chondroectodermal dysplasia with night blindness ()
..complex lethal osteochondrodysplasia ()
..congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ()
..Ehlers-Danlos syndrome progeroid type ()
..Ehlers-Danlos/osteogenesis imperfecta syndrome ()
..geroderma osteodysplastica ()
..gnathodiaphyseal dysplasia ()
..Grant syndrome ()
..idiopathic juvenile osteoporosis ()
..LRP5-related primary osteoporosis ()
..osteogenesis imperfecta ()
..osteopenia-intellectual disability-sparse hair syndrome ()
..osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome ()
..osteoporosis-oculocutaneous hypopigmentation syndrome ()
..osteoporosis-pseudoglioma syndrome ()
..singleton-Merten dysplasia ()
..spondylo-ocular syndrome ()
..TMEM165-CDG ()
..wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ()
..X-linked osteoporosis with fractures ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17869
Name:	chondroectodermal dysplasia with night blindness
Definition:	Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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