TaoMedAI/RareMedData huggingface dataset:
Gene: SOX9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Young adult onset (HP:0011462)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Narrow chest (HP:0000774)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Infertility (HP:0000789)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Abnormal scrotal rugation (HP:0012856)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Ovotestis (HP:0012861)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Ovotestis (HP:0012861)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Thin ribs (HP:0000883)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Irregular dentition (HP:0040079)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Stridor (HP:0010307)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Stridor (HP:0010307)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Cyanosis (HP:0000961)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Epicanthus (HP:0000286)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Small face (HP:0000274)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Sex reversal (HP:0012245)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Kyphosis (HP:0002808)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Anterior tibial bowing (HP:0006390)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Shortening of all phalanges of the toes (HP:0005035)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: High palate (HP:0000218)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Flat face (HP:0012368)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Flat face (HP:0012368)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Small abnormally formed scapulae (HP:0006584)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Low-set ears (HP:0000369)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Low-set ears (HP:0000369)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Long philtrum (HP:0000343)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: High forehead (HP:0000348)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Micrognathia (HP:0000347)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Micrognathia (HP:0000347)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Micrognathia (HP:0000347)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Tibial bowing (HP:0002982)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Femoral bowing (HP:0002980)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Femoral bowing (HP:0002980)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Absent sternal ossification (HP:0006628)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Short neck (HP:0000470)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Short nail (HP:0001799)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Pes planus (HP:0001763)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Choanal atresia (HP:0000453)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Hypoxemia (HP:0012418)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Proptosis (HP:0000520)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Hallux valgus (HP:0001822)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Myopia (HP:0000545)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX10
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Ocular albinism (HP:0001107)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: SOX10
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Gene: SOX10
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Hypertonia (HP:0001276)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Areflexia (HP:0001284)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Seizure (HP:0001250)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Seizure (HP:0001250)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Ataxia (HP:0001251)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Ataxia (HP:0001251)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Ileus (HP:0002595)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Ileus (HP:0002595)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Gene: SOX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Spasticity (HP:0001257)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Spasticity (HP:0001257)
Associated disease: Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease; WS4 plus (ORPHA:163746)
Gene: SOX10
Phenotype: Coma (HP:0001259)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SOX10
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: SOX10
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Gene: SOX10
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: SOX10
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)