TaoMedAI/RareMedData huggingface dataset:
Gene: DUOXA2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
Gene: DUOXA2
Phenotype: Goiter (HP:0000853)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
Gene: DUOXA2
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Facial edema (HP:0000282)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Growth delay (HP:0001510)
Associated disease: THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
Gene: DUOXA2
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Bradycardia (HP:0001662)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOXA2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: MIR140
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Small hand (HP:0200055)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Short nose (HP:0003196)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Inspiratory stridor (HP:0005348)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR140
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Gene: MIR140
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MIR140
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MIR184
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Childhood onset (HP:0011463)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Astigmatism (HP:0000483)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Microcornea (HP:0000482)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Visual impairment (HP:0000505)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR184
Phenotype: Keratoconus (HP:0000563)
Associated disease: EDICT SYNDROME (OMIM:614303)
Gene: MIR204
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
Gene: MIR204
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
Gene: MIR204
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
Gene: MIR204
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Iris coloboma (HP:0000612)
Associated disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
Gene: MIR204
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
Gene: MIR204
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Developmental cataract (HP:0000519)
Associated disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
Gene: MIR204
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR204
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MIR96
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
Gene: MIR96
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
Gene: MIR96
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
Gene: MIR96
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
Gene: MIR96
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
Gene: MIR17HG
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Short thumb (HP:0009778)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Anxiety (HP:0000739)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Emotional lability (HP:0000712)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)
Gene: MIR17HG
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2; Feingold syndrome type 2; FS2; FGLDS2; MMT type 2; Brunner-Winter syndrome type 2; Brachydactyly-short stature-microcephaly syndrome (ORPHA:391646)