TaoMedAI/RareMedData huggingface dataset:
Gene: MAP3K7
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Fetal onset (HP:0011461)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Dysplastic tricuspid valve (HP:0030732)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Rib fusion (HP:0000902)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Elbow contracture (HP:0034391)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Hip contracture (HP:0003273)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Stridor (HP:0010307)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Soft skin (HP:0000977)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Short diaphyses (HP:0000941)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Pes valgus (HP:0008081)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Epicanthus (HP:0000286)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Full cheeks (HP:0000293)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Full cheeks (HP:0000293)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Full cheeks (HP:0000293)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Progressive bowing of long bones (HP:0006383)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Mitral regurgitation-hearing loss-skeletal anomalies syndrome; Mitral regurgitation-deafness-skeletal anomalies syndrome; Cardiospondylocarpofacial syndrome; Forney-Robinson-Pascoe syndrome; Forney syndrome (ORPHA:3238)
Gene: MAP3K7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: High palate (HP:0000218)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Growth delay (HP:0001510)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Camptodactyly (HP:0012385)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Low-set ears (HP:0000369)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Long philtrum (HP:0000343)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Micrognathia (HP:0000347)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Short chin (HP:0000331)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Short philtrum (HP:0000322)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Mitral regurgitation-hearing loss-skeletal anomalies syndrome; Mitral regurgitation-deafness-skeletal anomalies syndrome; Cardiospondylocarpofacial syndrome; Forney-Robinson-Pascoe syndrome; Forney syndrome (ORPHA:3238)
Gene: MAP3K7
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Pointed chin (HP:0000307)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Mitral regurgitation-hearing loss-skeletal anomalies syndrome; Mitral regurgitation-deafness-skeletal anomalies syndrome; Cardiospondylocarpofacial syndrome; Forney-Robinson-Pascoe syndrome; Forney syndrome (ORPHA:3238)
Gene: MAP3K7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Mitral regurgitation-hearing loss-skeletal anomalies syndrome; Mitral regurgitation-deafness-skeletal anomalies syndrome; Cardiospondylocarpofacial syndrome; Forney-Robinson-Pascoe syndrome; Forney syndrome (ORPHA:3238)
Gene: MAP3K7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Hypoplastic nasal tip (HP:0005278)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Astigmatism (HP:0000483)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Strabismus (HP:0000486)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Webbed neck (HP:0000465)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Short foot (HP:0001773)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Pes cavus (HP:0001761)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Fusion of middle ear ossicles (HP:0005473)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Telecanthus (HP:0000506)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Ptosis (HP:0000508)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAL1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: TAL1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: TAL1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: TAL2
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: TAL2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: TAL2
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: TALDO1
Phenotype: Abnormal circulating glutamine concentration (HP:0010903)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Abnormal clitoris morphology (HP:0000056)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Wide mouth (HP:0000154)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Poor suck (HP:0002033)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Asthma (HP:0002099)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Anemia (HP:0001903)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Anemia (HP:0001903)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Synophrys (HP:0000664)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Edema (HP:0000969)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Low-set ears (HP:0000369)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Short philtrum (HP:0000322)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Triangular face (HP:0000325)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)