TaoMedAI/RareMedData huggingface dataset:
Gene: NOTCH3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Platybasia (HP:0002691)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOFIBROMATOSIS, INFANTILE, 2 (OMIM:615293)
Gene: NOTCH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Wormian bones (HP:0002645)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Wormian bones (HP:0002645)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Varicose veins (HP:0002619)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Cleft palate (HP:0000175)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Osteolysis (HP:0002797)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Nonarteritic anterior ischemic optic neuropathy (HP:0007634)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Dysphagia (HP:0002015)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Multifocal hyperintensity of cerebral white matter on MRI (HP:0040329)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Syringomyelia (HP:0003396)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Migraine (HP:0002076)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Migraine (HP:0002076)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Migraine with aura (HP:0002077)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Tethered cord (HP:0002144)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Keloids (HP:0010562)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Middle age onset (HP:0003596)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Congenital onset (HP:0003577)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Coarse hair (HP:0002208)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Dural ectasia (HP:0100775)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Fibroma (HP:0010614)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Aphasia (HP:0002381)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Memory impairment (HP:0002354)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Memory impairment (HP:0002354)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Motor deterioration (HP:0002333)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Vascular granular osmiophilic material deposition (HP:0003657)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Subcortical dementia (HP:0007123)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Hemiplegia (HP:0002301)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Myofibromatosis (HP:0020135)
Associated disease: MYOFIBROMATOSIS, INFANTILE, 2 (OMIM:615293)
Gene: NOTCH3
Phenotype: Abnormally slow thought process (HP:0031843)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Abulia (HP:0012671)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Dental crowding (HP:0000678)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Dental crowding (HP:0000678)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Short stature (HP:0004322)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Personality changes (HP:0000751)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Anxiety (HP:0000739)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Apathy (HP:0000741)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Depression (HP:0000716)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Emotional lability (HP:0000712)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Dementia (HP:0000726)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Psychosis (HP:0000709)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Young adult onset (HP:0011462)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Abnormality of the middle ear ossicles (HP:0004452)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Abnormality of the middle ear ossicles (HP:0004452)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Short nasal bridge (HP:0003194)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Hypertension (HP:0000822)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Sarcoma (HP:0100242)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Narrow face (HP:0000275)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Malar flattening (HP:0000272)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Malar flattening (HP:0000272)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Kyphosis (HP:0002808)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: High palate (HP:0000218)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: High palate (HP:0000218)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Low-set ears (HP:0000369)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Long philtrum (HP:0000343)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Micrognathia (HP:0000347)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Perseverative thought (HP:0030223)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Short neck (HP:0000470)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Short neck (HP:0000470)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Proptosis (HP:0000520)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Telecanthus (HP:0000506)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Ptosis (HP:0000508)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Ptosis (HP:0000508)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Visual loss (HP:0000572)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOVA2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)