TaoMedAI/RareMedData huggingface dataset:
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Tracheobronchomalacia (HP:0002786)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Metatarsal synostosis (HP:0001440)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Facial midline hemangioma (HP:0004664)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Abnormal enchondral ossification (HP:0003336)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Horizontal sacrum (HP:0003440)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Laryngotracheal stenosis (HP:0004894)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Cystic lesions of the pinnae (HP:0010723)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Large earlobe (HP:0009748)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Glabellar hemangioma (HP:0001076)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Tibial torsion (HP:0100694)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Short thumb (HP:0009778)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Short metatarsal (HP:0010743)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Acromicria (HP:0031878)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Short stature (HP:0004322)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Short stature (HP:0004322)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Short long bone (HP:0003026)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Narrow chest (HP:0000774)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Narrow chest (HP:0000774)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Short ribs (HP:0000773)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Short ribs (HP:0000773)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Short nose (HP:0003196)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Wide nasal base (HP:0012810)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Short femur (HP:0003097)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)