TaoMedAI/RareMedData huggingface dataset:
Gene: COG4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Short stature (HP:0004322)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Madelung deformity (HP:0003067)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Irritability (HP:0000737)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Irritability (HP:0000737)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Irregularity of vertebral bodies (HP:0004582)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Neonatal sepsis (HP:0040187)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Malar flattening (HP:0000272)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Hypoplasia of proximal fibula (HP:0006442)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Overtubulated long bones (HP:0006391)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Abnormal protein O-linked glycosylation (HP:0012358)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Fatal liver failure in infancy (HP:0006583)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Abnormal protein N-linked glycosylation (HP:0012347)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Micrognathia (HP:0000347)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Cataract (HP:0000518)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Cataract (HP:0000518)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Proptosis (HP:0000520)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Proptosis (HP:0000520)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: WHRN
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Absent vestibular function (HP:0008555)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 31 (OMIM:607084)
Gene: WHRN
Phenotype: Ataxia (HP:0001251)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IID (OMIM:611383)
Gene: WHRN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 31 (OMIM:607084)
Gene: WHRN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 31 (OMIM:607084)
Gene: WHRN
Phenotype: Congenital onset (HP:0003577)
Associated disease: USHER SYNDROME, TYPE IID (OMIM:611383)
Gene: WHRN
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Nystagmus (HP:0000639)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Microdontia (HP:0000691)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USHER SYNDROME, TYPE IID (OMIM:611383)
Gene: WHRN
Phenotype: Carious teeth (HP:0000670)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Hallucinations (HP:0000738)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Anxiety (HP:0000739)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Depression (HP:0000716)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Hemianopia (HP:0012377)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: USHER SYNDROME, TYPE IID (OMIM:611383)
Gene: WHRN
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 31 (OMIM:607084)
Gene: WHRN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE IID (OMIM:611383)
Gene: WHRN
Phenotype: Cataract (HP:0000518)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IID (OMIM:611383)
Gene: WHRN
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Scotoma (HP:0000575)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Visual loss (HP:0000572)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: WHRN
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WHRN
Phenotype: Myopia (HP:0000545)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: RMP64
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: High anterior hairline (HP:0009890)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Motor delay (HP:0001270)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Severe short stature (HP:0003510)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Broad middle phalanx of finger (HP:0009844)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Oligodontia (HP:0000677)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Narrow chest (HP:0000774)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)
Gene: RMP64
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ANAUXETIC DYSPLASIA 3 (OMIM:618853)