TaoMedAI/RareMedData huggingface dataset:
Gene: TONSL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Short long bone (HP:0003026)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Mesomelia (HP:0003027)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Mesomelia (HP:0003027)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
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 nose (HP:0003196)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Short nose (HP:0003196)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Shallow acetabular fossae (HP:0003182)
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 acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Hypothyroidism (HP:0000821)
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 puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Ivory epiphyses of the phalanges of the hand (HP:0010234)
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 clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Hypoplasia of the dental root (HP:0040221)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Knee pain (HP:0030839)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Shoulder pain (HP:0030834)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Neck pain (HP:0030833)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Osteopenia (HP:0000938)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Congenital aphakia (HP:0007707)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Epicanthus (HP:0000286)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Long face (HP:0000276)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Coxa vara (HP:0002812)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Genu valgum (HP:0002857)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Metaphyseal striations (HP:0031367)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Metaphyseal striations (HP:0031367)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Hip subluxation (HP:0030043)
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 for gestational age (HP:0001518)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Weak voice (HP:0001621)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Anteverted nares (HP:0000463)
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 neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Short foot (HP:0001773)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Broad foot (HP:0001769)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Pes planus (HP:0001763)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Wide nose (HP:0000445)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: TONSL
Phenotype: Obtuse angle of mandible (HP:0005446)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Cataract (HP:0000518)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TONSL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TONSL
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; SPONASTRIME dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Gene: TONSL
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Gene: NGF
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Decreased number of small peripheral myelinated nerve fibers (HP:0007249)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Constipation (HP:0002019)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Diarrhea (HP:0002014)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Low back pain (HP:0003419)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Gene: NGF
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NGF
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)