TaoMedAI/RareMedData huggingface dataset:
Gene: SCARF2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Long foot (HP:0001833)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Tapered finger (HP:0001182)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Tapered finger (HP:0001182)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Motor delay (HP:0001270)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Short femoral neck (HP:0100864)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Waddling gait (HP:0002515)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Moderately short stature (HP:0008848)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Moderately short stature (HP:0008848)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Bifid uvula (HP:0000193)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Frontal bossing (HP:0002007)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Hypodontia (HP:0000668)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Thin skin (HP:0000963)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Thin skin (HP:0000963)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Osteopenia (HP:0000938)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Osteopenia (HP:0000938)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: High palate (HP:0000218)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Webbed neck (HP:0000465)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Pes planus (HP:0001763)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A13
Phenotype: Proptosis (HP:0000520)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Blue sclerae (HP:0000592)
Associated disease: SLC39A13-related spEDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; spEDS-SLC39A13; SLC39A13-related spondylodysplastic EDS (ORPHA:157965)
Gene: SLC39A13
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Gene: SLC39A13
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC39A13
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACBD5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Prominent ear helix (HP:0009904)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Motor delay (HP:0001270)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Dysarthria (HP:0001260)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Waddling gait (HP:0002515)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Falls (HP:0002527)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Dysmetria (HP:0001310)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Cleft palate (HP:0000175)
Associated disease: RETINAL DYSTROPHY WITH LEUKODYSTROPHY (OMIM:618863)
Gene: ACBD5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ACBD5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)