Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the curvature of the vertebral column (HP:0010674)help
Parent Node:
expand
Scoliosis (HP:0002650)help
..Starting node
..expand
Thoracolumbar scoliosis (HP:0002944)help
Term ID: 2944
Name: Thoracolumbar scoliosis
Synonym: Scoliosis, thoracolumbar
Definition:
Comments:
Reference: HP:0002944
Genes and Diseases:
 
       Child Nodes:
........expandThoracolumbar kyphoscoliosis (HP:0003423) help
........expandLumbar scoliosis (HP:0004626) help
................... HP:0004619 Lumbar kyphoscoliosis

 Sister Nodes: 
..expandCompensatory scoliosis (HP:0100884) help
..expandKyphoscoliosis (HP:0002751) help
..expandProgressive congenital scoliosis (HP:0008458) help
..expandThoracic scoliosis (HP:0002943) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002944HP:0002944Thoracolumbar scoliosis0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0002944HP:0002944Thoracolumbar scoliosis0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0002944HP:0002944Thoracolumbar scoliosis0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002944HP:0002944Thoracolumbar scoliosis0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002944HP:0002944Thoracolumbar scoliosis0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0002944HP:0002944Thoracolumbar scoliosis0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0002944HP:0002944Thoracolumbar scoliosis0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0002944HP:0002944Thoracolumbar scoliosis0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0002944HP:0002944Thoracolumbar scoliosis0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0002944HP:0002944Thoracolumbar scoliosis0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0002944HP:0002944Thoracolumbar scoliosis0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0002944HP:0002944Thoracolumbar scoliosis0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0002944HP:0002944Thoracolumbar scoliosis0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0002944HP:0002944Thoracolumbar scoliosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002944HP:0002944Thoracolumbar scoliosis0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002944HP:0002944Thoracolumbar scoliosis0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0002944HP:0002944Thoracolumbar scoliosis0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002944HP:0002944Thoracolumbar scoliosis0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0002944HP:0002944Thoracolumbar scoliosis0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002944HP:0002944Thoracolumbar scoliosis0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0002944HP:0002944Thoracolumbar scoliosis0LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome51
HP:0002944HP:0002944Thoracolumbar scoliosis0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0002944HP:0002944Thoracolumbar scoliosis0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002944HP:0002944Thoracolumbar scoliosis0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0002944HP:0002944Thoracolumbar scoliosis0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0002944HP:0002944Thoracolumbar scoliosis0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism.5
HP:0002944HP:0002944Thoracolumbar scoliosis0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002944HP:0002944Thoracolumbar scoliosis0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0002944HP:0002944Thoracolumbar scoliosis0NIN CL E G H5119914906OMIM:614851Seckel syndrome 755
HP:0002944HP:0002944Thoracolumbar scoliosis0PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes20
HP:0002944HP:0002944Thoracolumbar scoliosis0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0002944HP:0002944Thoracolumbar scoliosis0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0002944HP:0002944Thoracolumbar scoliosis0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0002944HP:0002944Thoracolumbar scoliosis0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 1.90
HP:0002944HP:0002944Thoracolumbar scoliosis0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1.120
HP:0002944HP:0002944Thoracolumbar scoliosis0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0002944HP:0002944Thoracolumbar scoliosis0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002944HP:0002944Thoracolumbar scoliosis0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0002944HP:0002944Thoracolumbar scoliosis0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0002944HP:0002944Thoracolumbar scoliosis0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0002944HP:0002944Thoracolumbar scoliosis0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0002944HP:0002944Thoracolumbar scoliosis0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0002944HP:0004626Lumbar scoliosis1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0002944HP:0004626Lumbar scoliosis1AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0002944HP:0004626Lumbar scoliosis1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002944HP:0004626Lumbar scoliosis1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002944HP:0004626Lumbar scoliosis1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040282 - Frequent
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040282 - Frequent2
HP:0002944HP:0004626Lumbar scoliosis1COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0002944HP:0004626Lumbar scoliosis1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0002944HP:0004626Lumbar scoliosis1HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0002944HP:0004626Lumbar scoliosis1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0002944HP:0004626Lumbar scoliosis1LONP1 CL E G H93619479OMIM:600373CODAS syndrome.8
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0002944HP:0004626Lumbar scoliosis1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0002944HP:0004626Lumbar scoliosis1NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0002944HP:0004626Lumbar scoliosis1PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes.20
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0002944HP:0004626Lumbar scoliosis1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002944HP:0003423Thoracolumbar kyphoscoliosis1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0002944HP:0004626Lumbar scoliosis1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0002944HP:0004619Lumbar kyphoscoliosis2ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002944HP:0004619Lumbar kyphoscoliosis2COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284


Genes (39) :ALMS1 AP1G1 ASH1L ATG7 ATP6V1B2 CCN6 CDH11 CHRNG CLCF1 COL1A2 COL2A1 COL6A2 GLIS3 GNB2 GNPTAB HYAL1 IDH1 IGBP1 IL6ST LBR LHX3 LONP1 MAPK8IP3 MED12 MGAT2 MYO18B NEPRO NIN PAPSS2 PDGFRB PIEZO2 POP1 ROBO3 ROR2 RPL10 RSPRY1 SLC26A2 TBC1D24 USP9X

Diseases (41) :ORPHA:64 OMIM:619548 OMIM:617796 OMIM:619422 ORPHA:79500 ORPHA:1159 ORPHA:1299 OMIM:265000 OMIM:610313 ORPHA:230851 OMIM:156550 OMIM:255600 OMIM:610199 OMIM:619503 OMIM:252500 OMIM:601492 ORPHA:99646 OMIM:300472 OMIM:618523 OMIM:618019 ORPHA:231720 OMIM:600373 OMIM:618443 OMIM:301068 OMIM:212066 OMIM:616549 OMIM:618853 ORPHA:319675 OMIM:614851 OMIM:612847 OMIM:616592 OMIM:114300 OMIM:617396 OMIM:607313 OMIM:113000 OMIM:268310 OMIM:300998 ORPHA:457395 OMIM:616723 ORPHA:56304 ORPHA:480880
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.