TaoMedAI/RareMedData huggingface dataset:
Gene: NFKBIA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Invasive fungal infection (HP:0020101)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Pedal edema (HP:0010741)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Conical tooth (HP:0000698)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Dry skin (HP:0000958)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Osteopenia (HP:0000938)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Sparse hair (HP:0008070)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Growth delay (HP:0001510)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Autoimmunity (HP:0002960)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Aplasia of the sweat glands (HP:0011136)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Defective production of NFKB1-dependent cytokines (HP:0011114)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Gene: NFKBIA
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIA
Phenotype: Severe viral infection (HP:0031691)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: NFKBIL1
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Joint swelling (HP:0001386)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Vasculitis (HP:0002633)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Interphalangeal joint erosions (HP:0006252)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Fever (HP:0001945)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Anti-citrullinated protein antibody positivity (HP:0033034)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Digital flexor tenosynovitis (HP:0012276)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Arthralgia (HP:0002829)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Fatigue (HP:0012378)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Weight loss (HP:0001824)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: NFKBIL1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: TONSL
Phenotype: Broad palm (HP:0001169)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Aplasia of the nasal bone (HP:0010941)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Flattened humeral epiphyses (HP:0003895)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Hypospadias (HP:0000047)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Microcoria (HP:0025492)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Short dental root (HP:0006336)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Short dental root (HP:0006336)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Hypoplasia of the nasal bone (HP:0004646)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Hyperconvex vertebral body endplates (HP:0004603)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Small epiphyses (HP:0010585)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Lumbar interpedicular narrowing (HP:0008486)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Osteopathia striata (HP:0010740)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Chiari malformation (HP:0002308)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Short palm (HP:0004279)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Microdontia (HP:0000691)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)