TaoMedAI/RareMedData huggingface dataset:
Gene: CRYBB1
Phenotype: Microcornea (HP:0000482)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB2
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 3, MULTIPLE TYPES (OMIM:601547)
Gene: CRYBB2
Phenotype: Nuclear pulverulent cataract (HP:0010698)
Associated disease: CATARACT 3, MULTIPLE TYPES (OMIM:601547)
Gene: CRYBB2
Phenotype: Sutural cataract (HP:0010695)
Associated disease: CATARACT 3, MULTIPLE TYPES (OMIM:601547)
Gene: CRYBB2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB2
Phenotype: Cerulean cataract (HP:0007976)
Associated disease: CATARACT 3, MULTIPLE TYPES (OMIM:601547)
Gene: CRYBB2
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB2
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 3, MULTIPLE TYPES (OMIM:601547)
Gene: CRYBB2
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 22, MULTIPLE TYPES (OMIM:609741)
Gene: CRYBB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 22, MULTIPLE TYPES (OMIM:609741)
Gene: CRYBB3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 22, MULTIPLE TYPES (OMIM:609741)
Gene: CRYBB3
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 22, MULTIPLE TYPES (OMIM:609741)
Gene: CRYBB3
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 22, MULTIPLE TYPES (OMIM:609741)
Gene: CRYBB3
Phenotype: Glaucoma (HP:0000501)
Associated disease: CATARACT 22, MULTIPLE TYPES (OMIM:609741)
Gene: CRYGB
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: CATARACT 39, MULTIPLE TYPES (OMIM:615188)
Gene: CRYGB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 39, MULTIPLE TYPES (OMIM:615188)
Gene: CRYGB
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 39, MULTIPLE TYPES (OMIM:615188)
Gene: CRYGB
Phenotype: Lamellar cataract (HP:0007971)
Associated disease: CATARACT 39, MULTIPLE TYPES (OMIM:615188)
Gene: CRYGB
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 39, MULTIPLE TYPES (OMIM:615188)
Gene: CRYGC
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGC
Phenotype: Aculeiform cataract (HP:0010926)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Nuclear pulverulent cataract (HP:0010698)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Nystagmus (HP:0000639)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGC
Phenotype: Amblyopia (HP:0000646)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Photophobia (HP:0000613)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGC
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGC
Phenotype: Microcornea (HP:0000482)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGC
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGC
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Visual impairment (HP:0000505)
Associated disease: CATARACT 2, MULTIPLE TYPES (OMIM:604307)
Gene: CRYGC
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGD
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 4, MULTIPLE TYPES (OMIM:115700)
Gene: CRYGD
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGD
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGD
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGD
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGD
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGD
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 4, MULTIPLE TYPES (OMIM:115700)
Gene: CRYGD
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYGS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 20, MULTIPLE TYPES (OMIM:116100)
Gene: CRYGS
Phenotype: Sutural cataract (HP:0010695)
Associated disease: CATARACT 20, MULTIPLE TYPES (OMIM:116100)
Gene: CRYGS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CATARACT 20, MULTIPLE TYPES (OMIM:116100)
Gene: CRYGS
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 20, MULTIPLE TYPES (OMIM:116100)
Gene: CRYGS
Phenotype: Cortical cataract (HP:0100019)
Associated disease: CATARACT 20, MULTIPLE TYPES (OMIM:116100)
Gene: CRYGS
Phenotype: Lamellar cataract (HP:0007971)
Associated disease: CATARACT 20, MULTIPLE TYPES (OMIM:116100)
Gene: CRYM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
Gene: CRYM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
Gene: CRYM
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
Gene: CRYM
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
Gene: CRYM
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
Gene: CSF1R
Phenotype: Poor speech (HP:0002465)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: CNS demyelination (HP:0007305)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Mental deterioration (HP:0001268)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Mental deterioration (HP:0001268)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Seizure (HP:0001250)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Ataxia (HP:0001251)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Dysarthria (HP:0001260)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Spasticity (HP:0001257)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Sclerotic vertebral body (HP:0100861)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Parkinsonism (HP:0001300)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Dysphagia (HP:0002015)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Bradykinesia (HP:0002067)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Rigidity (HP:0002063)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Rigidity (HP:0002063)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Apraxia (HP:0002186)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Gliosis (HP:0002171)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Postural instability (HP:0002172)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Middle age onset (HP:0003596)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Congenital onset (HP:0003577)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Adult onset (HP:0003581)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Shuffling gait (HP:0002362)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Progressive (HP:0003676)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Memory impairment (HP:0002354)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Mutism (HP:0002300)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Mutism (HP:0002300)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Nystagmus (HP:0000639)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Increased skull ossification (HP:0004330)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Delusion (HP:0000746)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Depression (HP:0000716)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Atypical behavior (HP:0000708)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Childhood onset (HP:0011463)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)