TaoMedAI/RareMedData huggingface dataset:
Gene: JAM3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Congenital onset (HP:0003577)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Cystic renal dysplasia (HP:0000800)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Death in infancy (HP:0001522)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Cataract (HP:0000518)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: JAM3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Gene: FERMT3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Sepsis (HP:0100806)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Abnormal lymph node morphology (HP:0002733)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Anemia (HP:0001903)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Petechiae (HP:0000967)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Epistaxis (HP:0000421)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FERMT3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Pain (HP:0012531)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE III (OMIM:612840)
Gene: FERMT3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FERMT3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESPN
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Vestibular areflexia (HP:0008568)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
Gene: ESPN
Phenotype: Ataxia (HP:0001251)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
Gene: ESPN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Gene: ESPN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Gene: ESPN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Anxiety (HP:0000739)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Depression (HP:0000716)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Drusen (HP:0011510)
Associated disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Gene: ESPN
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Gene: ESPN
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
Gene: ESPN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Gene: ESPN
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Gene: ESPN
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Cataract (HP:0000518)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Scotoma (HP:0000575)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Visual loss (HP:0000572)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: ESPN
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Gene: ESPN
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ESPN
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TLCD3B
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Hypoautofluorescent retinal lesion (HP:0025159)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Young adult onset (HP:0011462)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Undetectable pattern electroretinogram (HP:0030844)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 22 (OMIM:619531)
Gene: TLCD3B
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: TLCD3B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: ITCH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Motor delay (HP:0001270)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Hypotonia (HP:0001252)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Gene: ITCH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)