TaoMedAI/RareMedData huggingface dataset:
Gene: NOTCH1
Phenotype: Absent toenail (HP:0001802)
Associated disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Gene: NOTCH1
Phenotype: Absent fingernail (HP:0001817)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Gene: NOTCH1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH1
Phenotype: Talipes (HP:0001883)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AOS; Congenital scalp defects with distal limb reduction anomalies; Aplasia cutis congenita with terminal transverse limb defects; Aplasia cutis congenita with distal limb anomalies; Adams-Oliver syndrome; Congenital scalp defects with distal limb anomalies (ORPHA:974)
Gene: NOTCH2
Phenotype: Brachydactyly (HP:0001156)
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 distal phalanx of finger (HP:0009882)
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: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Abnormal fingernail morphology (HP:0001231)
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: Intestinal malrotation (HP:0002566)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Intestinal malrotation (HP:0002566)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Proteinuria (HP:0000093)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Cholestasis (HP:0001396)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Joint hypermobility (HP:0001382)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Hypospadias (HP:0000047)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Hypospadias (HP:0000047)
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: Inguinal hernia (HP:0000023)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Inguinal hernia (HP:0000023)
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: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Platybasia (HP:0002691)
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: Cryptorchidism (HP:0000028)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Absent frontal sinuses (HP:0002688)
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: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Crowded carpal bones (HP:0006180)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NOTCH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Skeletal dysplasia (HP:0002652)
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: Bone pain (HP:0002653)
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: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Scoliosis (HP:0002650)
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: Wormian bones (HP:0002645)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Wormian bones (HP:0002645)
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: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Abnormality of the dentition (HP:0000164)
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: Narrow mouth (HP:0000160)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Narrow mouth (HP:0000160)
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: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Osteolysis (HP:0002797)
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: Polycystic kidney dysplasia (HP:0000113)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Recurrent fractures (HP:0002757)
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: Pathologic fracture (HP:0002756)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Renal cyst (HP:0000107)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Renal cyst (HP:0000107)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Downturned corners of mouth (HP:0002714)
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: Syringomyelia (HP:0003396)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Fibular bowing (HP:0010502)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Hepatomegaly (HP:0002240)
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: Generalized hirsutism (HP:0002230)
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 hair (HP:0002208)
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: Recurrent respiratory infections (HP:0002205)
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: Large earlobe (HP:0009748)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Hernia (HP:0100790)
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: Hypoplasia of the zygomatic bone (HP:0010669)
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: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Hirsutism (HP:0001007)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Headache (HP:0002315)
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: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
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: Peripheral neuropathy (HP:0009830)
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: Open bite (HP:0010807)
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: Thickened skin (HP:0001072)
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 phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Skin ulcer (HP:0200042)
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: Cervical instability (HP:0008462)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Tall lumbar vertebral bodies (HP:0008421)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Hypoplastic 5th lumbar vertebrae (HP:0008424)
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: Chiari malformation (HP:0002308)
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: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NOTCH2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Multiple renal cysts (HP:0005562)
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: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Iris coloboma (HP:0000612)
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: Posterior embryotoxon (HP:0000627)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Partial absence of toe (HP:0011305)
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: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Abnormal facial shape (HP:0001999)
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: Synophrys (HP:0000664)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Synophrys (HP:0000664)
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: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Short stature (HP:0004322)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Short stature (HP:0004322)
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: Decreased skull ossification (HP:0004331)
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 cardiovascular system morphology (HP:0030680)
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: Dislocated radial head (HP:0003083)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOTCH2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Pectus carinatum (HP:0000768)
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: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Periodontitis (HP:0000704)
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: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Hematuria (HP:0000790)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Gene: NOTCH2
Phenotype: Basilar impression (HP:0005758)
Associated disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Gene: NOTCH2
Phenotype: Abnormal skull morphology (HP:0000929)
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: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NOTCH2
Phenotype: Long nose (HP:0003189)
Associated disease: ALAGILLE SYNDROME 2 (OMIM:610205)