TaoMedAI/RareMedData huggingface dataset:
Gene: SOST
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Short stature (HP:0004322)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Cortical sclerosis (HP:0005652)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Death in adolescence (HP:0011421)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Broad clavicles (HP:0000916)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Thickened ribs (HP:0000900)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Broad ribs (HP:0000885)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Sclerotic vertebral endplates (HP:0004576)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Malar flattening (HP:0000272)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Cortically dense long tubular bones (HP:0006415)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Arthralgia (HP:0002829)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Overgrowth (HP:0001548)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Hearing impairment (HP:0000365)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Sudden death (HP:0001699)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Optic atrophy from cranial nerve compression (HP:0007958)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Craniofacial osteosclerosis (HP:0005464)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Proptosis (HP:0000520)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Ptosis (HP:0000508)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Deviation of finger (HP:0004097)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Visual loss (HP:0000572)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Esotropia (HP:0000565)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TPRKB
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Ataxia (HP:0001251)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Spasticity (HP:0001257)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Pachygyria (HP:0001302)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Large earlobe (HP:0009748)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Childhood onset (HP:0011463)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Edema (HP:0000969)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Epicanthus (HP:0000286)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Long face (HP:0000276)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: TPRKB
Phenotype: Deeply set eye (HP:0000490)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Brain atrophy (HP:0012444)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: TPRKB
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Gene: COQ6
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Seizure (HP:0001250)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Seizure (HP:0001250)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Lumbosacral hemangioma (HP:0410275)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Proteinuria (HP:0000093)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Lipoma (HP:0012032)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Neoplasm (HP:0002664)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: COQ6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Gene: COQ6
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)