TaoMedAI/RareMedData huggingface dataset:
Gene: AGA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AGA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGA
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Gene: ACAN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Short stature-advanced bone age-early-onset osteoarthritis syndrome (ORPHA:435804)
Gene: ACAN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: Short stature-advanced bone age-early-onset osteoarthritis syndrome (ORPHA:435804)
Gene: ACAN
Phenotype: Osteochondritis dissecans (HP:0010886)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Waddling gait (HP:0002515)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Gene: ACAN
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Gene: ACAN
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Short stature-advanced bone age-early-onset osteoarthritis syndrome (ORPHA:435804)
Gene: ACAN
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Short stature-advanced bone age-early-onset osteoarthritis syndrome (ORPHA:435804)
Gene: ACAN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Gene: ACAN
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Exostoses (HP:0100777)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Gene: ACAN
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Short thumb (HP:0009778)
Associated disease: Short stature-advanced bone age-early-onset osteoarthritis syndrome (ORPHA:435804)
Gene: ACAN
Phenotype: Short thumb (HP:0009778)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Broad hallux (HP:0010055)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Broad thumb (HP:0011304)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Broad thumb (HP:0011304)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Mesomelia (HP:0003027)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Mesomelia (HP:0003027)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Gene: ACAN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Short thorax (HP:0010306)
Associated disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Gene: ACAN
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Short finger (HP:0009381)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Hoarse voice (HP:0001609)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Hoarse voice (HP:0001609)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Micromelia (HP:0002983)
Associated disease: Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Gene: ACAN
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE (OMIM:608361)
Gene: ACAN
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Absent nasal bridge (HP:0005285)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Absent nasal bridge (HP:0005285)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS (OMIM:165800)
Gene: ACAN
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE (OMIM:612813)
Gene: ACAN
Phenotype: Short neck (HP:0000470)
Associated disease: SEMD, aggrecan type; Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Gene: ACAN
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACAN
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACAN
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGL
Phenotype: Reduced muscle glycogen debrancher enzyme activity (HP:6000616)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GDE deficiency; Amylo-1,6-glucosidase deficiency; GSD type 3; Limit dextrinosis; Glycogenosis type III; Glycogen storage disease type III; Glycogen storage disease due to glycogen debranching enzyme deficiency; Cori disease; Cori-Forbes disease; GSDIII; Glycogen storage disease type 3; Forbes disease; GSD due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis due to glycogen debranching enzyme deficiency (ORPHA:366)
Gene: AGL
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: GDE deficiency; Amylo-1,6-glucosidase deficiency; GSD type 3; Limit dextrinosis; Glycogenosis type III; Glycogen storage disease type III; Glycogen storage disease due to glycogen debranching enzyme deficiency; Cori disease; Cori-Forbes disease; GSDIII; Glycogen storage disease type 3; Forbes disease; GSD due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis due to glycogen debranching enzyme deficiency (ORPHA:366)
Gene: AGL
Phenotype: Midface retrusion (HP:0011800)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: GDE deficiency; Amylo-1,6-glucosidase deficiency; GSD type 3; Limit dextrinosis; Glycogenosis type III; Glycogen storage disease type III; Glycogen storage disease due to glycogen debranching enzyme deficiency; Cori disease; Cori-Forbes disease; GSDIII; Glycogen storage disease type 3; Forbes disease; GSD due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis due to glycogen debranching enzyme deficiency (ORPHA:366)
Gene: AGL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)