TaoMedAI/RareMedData huggingface dataset:
Gene: NTRK2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: NTRK2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: NTRK2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: NTRK2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: NTRK2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ROR1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 108 (OMIM:617654)
Gene: ROR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 108 (OMIM:617654)
Gene: ROR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 108 (OMIM:617654)
Gene: ROR1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 108 (OMIM:617654)
Gene: ROR1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 108 (OMIM:617654)
Gene: ROR2
Phenotype: Split hand (HP:0001171)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Syndactyly (HP:0001159)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Syndactyly (HP:0001159)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Duplication of the distal phalanx of hand (HP:0009883)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Microtia (HP:0008551)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Renal duplication (HP:0000075)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Micropenis (HP:0000054)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Micropenis (HP:0000054)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Hypospadias (HP:0000047)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Single interphalangeal crease of fifth finger (HP:0006216)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Macroglossia (HP:0000158)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Microglossia (HP:0000171)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Wide mouth (HP:0000154)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Wide mouth (HP:0000154)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Mesomelic arm shortening (HP:0005011)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Short digit (HP:0011927)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ROR2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ROR2
Phenotype: Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)
Associated disease: BRACHYDACTYLY, TYPE B1 (OMIM:113000)
Gene: ROR2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)
Gene: ROR2
Phenotype: Open bite (HP:0010807)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: ROR2
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 (OMIM:268310)