TaoMedAI/RareMedData huggingface dataset:
Gene: NOTCH2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NOTCH2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Hypertension (HP:0000822)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Dry skin (HP:0000958)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Osteopenia (HP:0000938)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Full cheeks (HP:0000293)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Abnormal mandible morphology (HP:0000277)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Malar flattening (HP:0000272)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: High palate (HP:0000218)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Genu valgum (HP:0002857)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Low-set ears (HP:0000369)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Long philtrum (HP:0000343)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NOTCH2
Phenotype: Broad forehead (HP:0000337)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Micrognathia (HP:0000347)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Triangular face (HP:0000325)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NOTCH2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Pointed chin (HP:0000307)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Short neck (HP:0000470)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Short neck (HP:0000470)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Short nail (HP:0001799)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Wide nose (HP:0000445)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Wide nose (HP:0000445)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Elongated sella turcica (HP:0005463)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Cataract (HP:0000518)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NOTCH2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Telecanthus (HP:0000506)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Short toe (HP:0001831)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Myopia (HP:0000545)
Associated disease: Cheney syndrome; Acroosteolysis with osteoporosis and changes in skull and mandible; Hajdu-Cheney syndrome; Arthrodentoosteodysplasia; Acroosteolysis dominant type (ORPHA:955)
Gene: NOTCH3
Phenotype: Language impairment (HP:0002463)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Meningocele (HP:0002435)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Meningocele (HP:0002435)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Recurrent subcortical infarcts (HP:0007236)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Recurrent subcortical infarcts (HP:0007236)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Stroke (HP:0001297)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Stroke (HP:0001297)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Motor delay (HP:0001270)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Hemiparesis (HP:0001269)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Confusion (HP:0001289)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Seizure (HP:0001250)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Hypotonia (HP:0001252)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Dysarthria (HP:0001260)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Spasticity (HP:0001257)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Stress urinary incontinence (HP:0010992)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Gene: NOTCH3
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CADASIL; Hereditary multi-infarct dementia; Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (ORPHA:136)
Gene: NOTCH3
Phenotype: Bone cyst (HP:0012062)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Infantile myofibromatosis (ORPHA:2591)
Gene: NOTCH3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Gene: NOTCH3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Lehman syndrome; Lateral meningocele syndrome (ORPHA:2789)
Gene: NOTCH3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)