TaoMedAI/RareMedData huggingface dataset:
Gene: HS2ST1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Hydroureter (HP:0000072)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Macroglossia (HP:0000158)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Short digit (HP:0011927)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Microdontia (HP:0000691)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Broad distal phalanx of the toes (HP:0010186)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Hip contracture (HP:0003273)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Genu valgum (HP:0002857)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Short neck (HP:0000470)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HS2ST1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Infra-orbital fold (HP:0011232)
Associated disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Gene: HS2ST1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HS2ST1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IQCB1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SENIOR-LOKEN SYNDROME 5 (OMIM:609254)
Gene: IQCB1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: SENIOR-LOKEN SYNDROME 5 (OMIM:609254)
Gene: IQCB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENIOR-LOKEN SYNDROME 5 (OMIM:609254)
Gene: IQCB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IQCB1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: IQCB1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IQCB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)