TaoMedAI/RareMedData huggingface dataset:
Gene: CDT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Emphysema (HP:0002097)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Short stature (HP:0004322)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Slender long bone (HP:0003100)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Slender long bone (HP:0003100)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Growth delay (HP:0001510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Gene: CDT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDT1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UNC93B1
Phenotype: Chills (HP:0025143)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Seizure (HP:0001250)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Coma (HP:0001259)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1 (OMIM:610551)
Gene: UNC93B1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Headache (HP:0002315)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Fever (HP:0001945)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Fatigue (HP:0012378)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1 (OMIM:610551)
Gene: UNC93B1
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1 (OMIM:610551)
Gene: UNC93B1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: UNC93B1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: DIAPH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Gene: DIAPH3
Phenotype: Absence of acoustic reflex (HP:0008529)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Gene: DIAPH3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Gene: DIAPH3
Phenotype: Abnormal speech discrimination (HP:0001963)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Gene: DIAPH3
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Gene: DIAPH3
Phenotype: Young adult onset (HP:0011462)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Gene: DIAPH3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Gene: ISCA1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Gene: ISCA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)