TaoMedAI/RareMedData huggingface dataset:
Gene: TAPT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Short ribs (HP:0000773)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Short nose (HP:0003196)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Short femur (HP:0003097)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Ascites (HP:0001541)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Flat face (HP:0012368)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Short neck (HP:0000470)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Webbed neck (HP:0000465)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Telecanthus (HP:0000506)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Gene: TAPT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TAPT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TAPT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TAPT1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TAPT1
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TUBB
Phenotype: Dysgenesis of the basal ganglia (HP:0025102)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Long fingers (HP:0100807)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Motor delay (HP:0001270)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Hypotonia (HP:0001252)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Ataxia (HP:0001251)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Small scrotum (HP:0000046)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Hypospadias (HP:0000047)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Increased number of skin folds (HP:0007522)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Focal polymicrogyria (HP:0032471)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Cleft palate (HP:0000175)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Cleft palate (HP:0000175)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: TUBB
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Circumferential skin creases on extremities (HP:0034400)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Gene: TUBB
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Gene: TUBB
Phenotype: Congenital onset (HP:0003577)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)