TaoMedAI/RareMedData huggingface dataset:
Gene: ATP7B
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Arthralgia (HP:0002829)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Ascites (HP:0001541)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Ascites (HP:0001541)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Late young adult onset (HP:0025710)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Splenomegaly (HP:0001744)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Weight loss (HP:0001824)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATR
Phenotype: Actinic keratosis (HP:0025127)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Seizure (HP:0001250)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Hypospadias (HP:0000047)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Livedo (HP:0033832)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Abnormal finger flexion crease (HP:0006143)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Pachygyria (HP:0001302)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Scoliosis (HP:0002650)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Oropharyngeal squamous cell carcinoma (HP:0012182)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Cleft palate (HP:0000175)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Ivory epiphyses (HP:0010583)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Infantile onset (HP:0003593)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Large basal ganglia (HP:0007048)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Telangiectasia (HP:0001009)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Yellow nails (HP:0011367)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Dental crowding (HP:0000678)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Hyperactivity (HP:0000752)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Childhood onset (HP:0011463)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Alopecia (HP:0001596)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Hypoplasia of proximal fibula (HP:0006442)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Hypoplasia of proximal radius (HP:0006434)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Microcephaly (HP:0000252)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Onychomycosis (HP:0012203)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: High palate (HP:0000218)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Conical incisor (HP:0011065)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Low-set ears (HP:0000369)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Sloping forehead (HP:0000340)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Micrognathia (HP:0000347)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Strabismus (HP:0000486)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Pes planus (HP:0001763)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Prominent nose (HP:0000448)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Sandal gap (HP:0001852)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: ATR
Phenotype: Ridged nail (HP:0001807)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Onycholysis (HP:0001806)
Associated disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Gene: ATR
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ATR
Phenotype: Talipes (HP:0001883)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ATR
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SECKEL SYNDROME 1 (OMIM:210600)
Gene: ATRX
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Tapered finger (HP:0001182)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Gene: ATRX
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Acquired HbH disease; Alpha-thalassemia-myelodysplastic syndrome; Acquired hemoglobin H disease; ATMDS (ORPHA:231401)
Gene: ATRX
Phenotype: Brachydactyly (HP:0001156)
Associated disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Gene: ATRX
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Visual field defect (HP:0001123)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Pituitary-dependent Cushing syndrome; Cushing disease; Pituitary corticotroph micro-adenoma; Corticotroph pituitary adenoma (ORPHA:96253)
Gene: ATRX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Microtia (HP:0008551)
Associated disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Gene: ATRX
Phenotype: Microtia (HP:0008551)
Associated disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)