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Parent Node:
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syndromic retinitis pigmentosa (MONDO:0020240)
..Starting node
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osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome ()

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 Sister Nodes: 
..expandAlstrom syndrome ()
..expandautosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ()
..expandBardet-Biedl syndrome ()
..expandcleft lip-retinopathy syndrome ()
..expandCockayne syndrome ()
..expandCohen syndrome ()
..expandfamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ()
..expandhypogonadotropic hypogonadism-retinitis pigmentosa syndrome ()
..expandJoubert syndrome with ocular defect ()
..expandJoubert syndrome with oculorenal defect ()
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandLaurence-Moon syndrome ()
..expandmuscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()
..expandoculotrichodysplasia ()
..expandosteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome ()
..expandpantothenate kinase-associated neurodegeneration ()
..expandPHARC syndrome ()
..expandprimary ciliary dyskinesia-retinitis pigmentosa syndrome ()
..expandpseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ()
..expandretinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ()
..expandretinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome ()
..expandretinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ()
..expandRHYNS syndrome ()
..expandSaldino-Mainzer syndrome ()
..expandspastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ()
..expandTELO2-related intellectual disability-neurodevelopmental disorder ()
..expandUsher syndrome ()
..expandxeroderma pigmentosum-Cockayne syndrome complex ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17041
Name:osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Definition:Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.
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Synonyms:Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome
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