TaoMedAI/RareMedData huggingface dataset:
Gene: DSE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Scoliosis (HP:0002650)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Narrow mouth (HP:0000160)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Cleft palate (HP:0000175)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Cleft lip (HP:0410030)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Constipation (HP:0002019)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Myalgia (HP:0003326)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Midface retrusion (HP:0011800)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Atlantoaxial dislocation (HP:0003414)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Congenital onset (HP:0003577)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Recurrent joint dislocation (HP:0031869)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Dental crowding (HP:0000678)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Abnormal mesentery morphology (HP:0100016)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Myopathy (HP:0003198)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Short nose (HP:0003196)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Short nose (HP:0003196)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Arthralgia (HP:0002829)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Redundant skin (HP:0001582)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Brachycephaly (HP:0000248)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: High palate (HP:0000218)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: High palate (HP:0000218)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Camptodactyly (HP:0012385)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Long philtrum (HP:0000343)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Long philtrum (HP:0000343)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)