TaoMedAI/RareMedData huggingface dataset:
Gene: SLC26A2
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Abnormal forearm bone morphology (HP:0040072)
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 clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Cervical spina bifida (HP:0005857)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Joint contracture (HP:0034392)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Hip contracture (HP:0003273)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Short thorax (HP:0010306)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Edema (HP:0000969)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Short finger (HP:0009381)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Short finger (HP:0009381)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Short finger (HP:0009381)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Malar flattening (HP:0000272)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLC26A2
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Coxa vara (HP:0002812)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Arthralgia (HP:0002829)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Short lower limbs (HP:0006385)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Limited elbow flexion (HP:0006376)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 (OMIM:226900)
Gene: SLC26A2
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Skewfoot (HP:0032649)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: High palate (HP:0000218)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Genu valgum (HP:0002857)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Death in infancy (HP:0001522)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Flat face (HP:0012368)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Flat face (HP:0012368)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Micromelia (HP:0002983)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Micromelia (HP:0002983)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Micromelia (HP:0002983)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Micromelia (HP:0002983)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Micromelia (HP:0002983)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Short chin (HP:0000331)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Radial bowing (HP:0002986)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: AOII; Atelosteogenesis type 2; Neonatal osseous dysplasia type 1; AO2; Atelosteogenesis type II; De la Chapelle dysplasia (ORPHA:56304)
Gene: SLC26A2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Breech presentation (HP:0001623)
Associated disease: ACHONDROGENESIS, TYPE IB (OMIM:600972)
Gene: SLC26A2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A2
Phenotype: Lacunar halos around chondrocytes (HP:0032930)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Increased intervertebral space (HP:0030320)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Abnormal ulnar epiphysis morphology (HP:0004037)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Flattened radial epiphyses (HP:0004002)
Associated disease: MED4; Polyepiphyseal dysplasia type 4; EDM4; Multiple epiphyseal dysplasia type 4; rMED; Autosomal recessive multiple epiphyseal dysplasia (ORPHA:93307)
Gene: SLC26A2
Phenotype: Costal cartilage calcification (HP:0006646)
Associated disease: DIASTROPHIC DYSPLASIA (OMIM:222600)
Gene: SLC26A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLC26A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ATELOSTEOGENESIS, TYPE II (OMIM:256050)
Gene: SLC26A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC26A2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)
Gene: SLC26A2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Diastrophic dysplasia; Diastrophic dwarfism (ORPHA:628)
Gene: SLC26A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLC26A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC26A2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Achondrogenesis, Parenti-Fraccaro type; Achondrogenesis type 1B (ORPHA:93298)