TaoMedAI/RareMedData huggingface dataset:
Gene: SAG
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SALL2
Phenotype: Lens subluxation (HP:0001132)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Nystagmus (HP:0000639)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Hypertropia (HP:0025586)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Cataract (HP:0000518)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Exotropia (HP:0000577)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL2
Phenotype: Esotropia (HP:0000565)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE (OMIM:216820)
Gene: SALL1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Abnormal tragus morphology (HP:0009912)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Microtia (HP:0008551)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Microtia (HP:0008551)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Hypospadias (HP:0000047)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Pseudoepiphyses of second metacarpal (HP:0006179)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Bifid uterus (HP:0000136)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Wide mouth (HP:0000154)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Metatarsal synostosis (HP:0001440)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Anal atresia (HP:0002023)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Anal atresia (HP:0002023)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Constipation (HP:0002019)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Urethral valve (HP:0010481)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Urethral valve (HP:0010481)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Tethered cord (HP:0002144)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Rectoperineal fistula (HP:0004792)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Rectoperineal fistula (HP:0004792)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: 1-2 toe syndactyly (HP:0010711)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Absent toe (HP:0010760)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: 3-4 toe syndactyly (HP:0009779)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Gene: SALL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: REAR syndrome; TBS; Imperforate anus-hand, foot and ear anomalies syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Townes syndrome; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; Townes-Brocks syndrome (ORPHA:857)
Gene: SALL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)