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: short rib dysplasia (MONDO:0019691)
Parent Node: thoracic malformation (MONDO:0015929)
..Starting node ..short rib-polydactyly syndrome ()
Child Nodes:
........cranioectodermal dysplasia ()
........Jeune syndrome ()
........Joubert syndrome with Jeune asphyxiating thoracic dystrophy ()
........short rib-polydactyly syndrome type 5 ()
........short rib-polydactyly syndrome, Majewski type ()
........short rib-polydactyly syndrome, Saldino-Noonan type ()
........short rib-polydactyly syndrome, Verma-Naumoff type ()
Sister Nodes:
..acropectorovertebral dysplasia ()
..congenitally short costocoracoid ligament ()
..fetal akinesia deformation sequence ()
..lethal congenital contracture syndrome 1 ()
..Matthew-wood syndrome ()
..NEK9-related lethal skeletal dysplasia ()
..orofaciodigital syndrome IV ()
..ossification anomalies-psychomotor developmental delay syndrome ()
..short rib-polydactyly syndrome ()
..shoulder and thorax deformity-congenital heart disease syndrome ()
..Sprengel deformity (disease) ()
..sternal cleft ()
..thoracic dysplasia-hydrocephalus syndrome ()
..thoracolaryngopelvic dysplasia ()
..thoracomelic dysplasia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15461
Name:	short rib-polydactyly syndrome
Definition:	Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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