TaoMedAI/RareMedData huggingface dataset:
Gene: FAR1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Short nose (HP:0003196)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Growth delay (HP:0001510)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Growth delay (HP:0001510)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Macrotia (HP:0000400)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Macrotia (HP:0000400)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Ptosis (HP:0000508)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Ptosis (HP:0000508)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLITRK6
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS AND MYOPIA (OMIM:221200)
Gene: SLITRK6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS AND MYOPIA (OMIM:221200)
Gene: SLITRK6
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS AND MYOPIA (OMIM:221200)
Gene: SLITRK6
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: High myopia (HP:0011003)
Associated disease: DEAFNESS AND MYOPIA (OMIM:221200)
Gene: SLITRK6
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS AND MYOPIA (OMIM:221200)
Gene: SLITRK6
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: SLITRK6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLITRK6
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: SLITRK6
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: SLITRK6
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: USP48
Phenotype: Visual field defect (HP:0001123)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Stroke (HP:0001297)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Panic attack (HP:0025269)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 85 (OMIM:620227)
Gene: USP48
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Large sella turcica (HP:0002690)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 85 (OMIM:620227)
Gene: USP48
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Flushing (HP:0031284)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: USP48
Phenotype: Moon facies (HP:0500011)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)