Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBone Diseases, Developmental (D001848)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandRetinitis Pigmentosa (D012174)
Parent Node:
expandScoliosis (D012600)
..Starting node
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)

       Child Nodes:



 Sister Nodes: 
..expandAcrodysplasia scoliosis (C538180)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCoffin syndrome 1 (C536435)
..expandDaish Hardman Lamont syndrome (C535770)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandGaze Palsy, Familial Horizontal, with Progressive Scoliosis (C564593)
..expandIida Kannari syndrome (C536284)
..expandKyphoscoliosis 1 (C565711)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandParastremmatic dwarfism (C537172)
..expandPilotto syndrome (C537400)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRigid spine syndrome (C535683)
..expandScoliosis, Arachnodactyly, And Blindness (C567309)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (OMIM:181800)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2 (OMIM:607354)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 (OMIM:608765)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4 (OMIM:612238)
..expandSCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5 (OMIM:612239)
..expandShprintzen omphalocele syndrome (C537329)
..expandSpondylocarpotarsal synostosis (C535780)
..expandTsukahara Syndrome (C566376)
..expandWaaler Aarskog syndrome (C536461)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9849
Name:Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
Definition:
Alternative IDs:
ParentIDs:MESH:D001848|MESH:D006130|MESH:D012174|MESH:D012600
TreeNumbers:C05.116.099/C537610 |C05.116.900.800.875/C537610 |C11.270.684/C537610 |C11.768.585.658.500/C537610 |C16.320.290.684/C537610 |C23.550.393/C537610
Synonyms:
Slim Mappings:Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C537610
MeSH: C537610
OMIM: 610319;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000705Amelogenesis imperfecta
3 HP:0004586Biconcave vertebral bodies
4 HP:0000885Broad ribs
5 HP:0000613Photophobia
6 HP:0003890Prominent deltoid tuberosities
7 HP:0007663Reduced visual acuity
8 HP:0008905Rhizomelia
9 HP:0000510Rod-cone dystrophy
10 HP:0002650Scoliosis
11 HP:0000894Short clavicles
12 HP:0100864Short femoral neck
13 HP:0005792Short humerus
14 HP:0000470Short neck
15 HP:0000773Short ribs
16 HP:0000486Strabismus
17 HP:0000505Visual impairment
Disease Causing ClinVar Variants