TaoMedAI/RareMedData huggingface dataset:
Gene: CHST14
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Motor delay (HP:0001270)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Hypotonia (HP:0001252)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Slender finger (HP:0001238)
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: CHST14
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Horseshoe kidney (HP:0000085)
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: CHST14
Phenotype: Joint dislocation (HP:0001373)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Inguinal hernia (HP:0000023)
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: CHST14
Phenotype: Craniosynostosis (HP:0001363)
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: CHST14
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Cryptorchidism (HP:0000028)
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: CHST14
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Decreased palmar creases (HP:0006184)
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: CHST14
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Muscle weakness (HP:0001324)
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: CHST14
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
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: CHST14
Phenotype: Scoliosis (HP:0002650)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
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: CHST14
Phenotype: Narrow mouth (HP:0000160)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Cleft palate (HP:0000175)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
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: CHST14
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
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: CHST14
Phenotype: Constipation (HP:0002019)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Short columella (HP:0002000)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
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: CHST14
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
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: CHST14
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
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: CHST14
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Abnormal duodenum morphology (HP:0002246)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Congenital onset (HP:0003577)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Scarring (HP:0100699)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
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: CHST14
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
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: CHST14
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
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: CHST14
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
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: CHST14
Phenotype: Flat forehead (HP:0004425)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
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: CHST14
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: CHST14
Phenotype: Short nose (HP:0003196)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHST14
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: CHST14
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHST14
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: CHST14
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
Phenotype: Large fontanelles (HP:0000239)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Gene: CHST14
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: CHST14
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)