TaoMedAI/RareMedData huggingface dataset:
Gene: TAF4B
Phenotype: Abnormal prolactin level (HP:0040086)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF4B
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF4B
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF4B
Phenotype: Abnormal circulating luteinizing hormone concentration (HP:0030345)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF6
Phenotype: Poor speech (HP:0002465)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Hirsutism (HP:0001007)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Low hanging columella (HP:0009765)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Broad hallux (HP:0010055)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Dental crowding (HP:0000678)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Synophrys (HP:0000664)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Short stature (HP:0004322)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: High palate (HP:0000218)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Long philtrum (HP:0000343)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Prominent nose (HP:0000448)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF6
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Gene: TAF13
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Gene: TAF13
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TAF13
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MAP3K7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Brachydactyly (HP:0001156)
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: Short distal phalanx of finger (HP:0009882)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Long fingers (HP:0100807)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Gastroparesis (HP:0002578)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Metacarpophalangeal joint contracture (HP:0006070)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Ureteral obstruction (HP:0006000)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Hypotrophy of the small hand muscles (HP:0006006)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Scoliosis (HP:0002650)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Scoliosis (HP:0002650)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Cleft palate (HP:0000175)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Cleft palate (HP:0000175)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Wide mouth (HP:0000154)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Failure of eruption of permanent teeth (HP:0006352)
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: Shoulder muscle hypoplasia (HP:0008952)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: High, narrow palate (HP:0002705)
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: Limited wrist movement (HP:0006248)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Deep philtrum (HP:0002002)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Keloids (HP:0010562)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Keloids (HP:0010562)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Limitation of movement at ankles (HP:0010505)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Pseudoepiphyses (HP:0010584)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Severe short stature (HP:0003510)
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: Hirsutism (HP:0001007)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Herniation of intervertebral nuclei (HP:0008441)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Short metatarsal (HP:0010743)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Short palm (HP:0004279)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Amblyopia (HP:0000646)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Oligodontia (HP:0000677)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Tooth malposition (HP:0000692)
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: Hypoplasia of the musculature (HP:0009004)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAP3K7
Phenotype: Broad thumb (HP:0011304)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Broad thumb (HP:0011304)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K7
Phenotype: Short stature (HP:0004322)
Associated disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Gene: MAP3K7
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Gene: MAP3K7
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: MAP3K7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)