TaoMedAI/RareMedData huggingface dataset:
Gene: IGKC
Phenotype: Cholangitis (HP:0030151)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: RBPJ
Phenotype: Split hand (HP:0001171)
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: RBPJ
Phenotype: Brachydactyly (HP:0001156)
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: RBPJ
Phenotype: Short distal phalanx of finger (HP:0009882)
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: RBPJ
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Hypertonia (HP:0001276)
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: RBPJ
Phenotype: Hemiparesis (HP:0001269)
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: RBPJ
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Seizure (HP:0001250)
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: RBPJ
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Intellectual disability (HP:0001249)
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: RBPJ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Finger syndactyly (HP:0006101)
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: RBPJ
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Cirrhosis (HP:0001394)
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: RBPJ
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Calvarial skull defect (HP:0001362)
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: RBPJ
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Congenital hepatic fibrosis (HP:0002612)
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: RBPJ
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Portal hypertension (HP:0001409)
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: RBPJ
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Encephalocele (HP:0002084)
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: RBPJ
Phenotype: Pulmonary arterial hypertension (HP:0002092)
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: RBPJ
Phenotype: Esophageal varix (HP:0002040)
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: RBPJ
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Abnormal metacarpal morphology (HP:0005916)
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: RBPJ
Phenotype: Porencephalic cyst (HP:0002132)
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: RBPJ
Phenotype: Short 5th toe (HP:0011917)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Congenital onset (HP:0003577)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
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: RBPJ
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
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: RBPJ
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Aplasia cutis congenita (HP:0001057)
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: RBPJ
Phenotype: EEG abnormality (HP:0002353)
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: RBPJ
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Absent toe (HP:0010760)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Absent toe (HP:0010760)
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: RBPJ
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Pulmonary artery atresia (HP:0004935)
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: RBPJ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Short palm (HP:0004279)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Periventricular leukomalacia (HP:0006970)
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: RBPJ
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Arteriovenous malformation (HP:0100026)
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: RBPJ
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Cutis marmorata (HP:0000965)
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: RBPJ
Phenotype: Sparse hair (HP:0008070)
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: RBPJ
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
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: RBPJ
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Alopecia (HP:0001596)
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: RBPJ
Phenotype: Abnormality of the upper limb (HP:0002817)
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: RBPJ
Phenotype: Abnormality of the lower limb (HP:0002814)
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: RBPJ
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Hydrocephalus (HP:0000238)
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: RBPJ
Phenotype: Microcephaly (HP:0000252)
Associated disease: ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
Gene: RBPJ
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Ascites (HP:0001541)
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: RBPJ
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Failure to thrive (HP:0001508)
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: RBPJ
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBPJ
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBPJ
Phenotype: Premature birth (HP:0001622)
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)