TaoMedAI/RareMedData huggingface dataset:
Gene: PAX3
Phenotype: Meningocele (HP:0002435)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Narrow naris (HP:0009933)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Narrow naris (HP:0009933)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Spina bifida (HP:0002414)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Spina bifida (HP:0002414)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Partial albinism (HP:0007443)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Partial albinism (HP:0007443)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Gene: PAX3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Congenital onset (HP:0003577)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: White eyelashes (HP:0002227)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: White eyelashes (HP:0002227)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: White eyelashes (HP:0002227)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: White eyebrow (HP:0002226)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: White eyebrow (HP:0002226)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: White eyebrow (HP:0002226)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: White forelock (HP:0002211)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Atelectasis (HP:0100750)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Scapular winging (HP:0003691)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Blue irides (HP:0000635)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Blue irides (HP:0000635)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: White hair (HP:0011364)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: White hair (HP:0011364)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Synophrys (HP:0000664)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Synophrys (HP:0000664)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Synophrys (HP:0000664)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Short nose (HP:0003196)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Short nose (HP:0003196)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Short nose (HP:0003196)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Aplasia of the vagina (HP:0003250)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Narrow face (HP:0000275)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Malar flattening (HP:0000272)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Microcephaly (HP:0000252)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Flat face (HP:0012368)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Flat face (HP:0012368)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Supernumerary vertebrae (HP:0002946)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)