TaoMedAI/RareMedData huggingface dataset:
Gene: TBX4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Bifid nose (HP:0011803)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Small patella syndrome; Scott-Taor syndrome; Ischiocoxopodopatellar syndrome; Coxopodopatellar syndrome; SPS; Ischiopubicpatellar syndrome; Ischiopatellar dysplasia (ORPHA:1509)
Gene: TBX4
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Acromelia of the lower limbs (HP:0010494)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Long toe (HP:0010511)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Amelia (HP:0009827)
Associated disease: AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME (OMIM:601360)
Gene: TBX4
Phenotype: Amelia involving the upper limbs (HP:0009812)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Short stature (HP:0004322)
Associated disease: Hereditary clubfoot due to 17q23.1-q23.2 microduplication; Familial clubfoot due to 17q23.1q23.2 microduplication (ORPHA:238578)
Gene: TBX4
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Short stature (HP:0004322)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Tetraamelia (HP:0003057)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Talocalcaneal synostosis (HP:0005682)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Aplasia/Hypoplasia involving the pelvis (HP:0009103)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Missing ribs (HP:0000921)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Short femur (HP:0003097)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Coxa magna (HP:0003279)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Full cheeks (HP:0000293)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Malar flattening (HP:0000272)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Small patella syndrome; Scott-Taor syndrome; Ischiocoxopodopatellar syndrome; Coxopodopatellar syndrome; SPS; Ischiopubicpatellar syndrome; Ischiopatellar dysplasia (ORPHA:1509)
Gene: TBX4
Phenotype: Coxa vara (HP:0002812)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Congenital contracture (HP:0002803)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: High palate (HP:0000218)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: Small patella syndrome; Scott-Taor syndrome; Ischiocoxopodopatellar syndrome; Coxopodopatellar syndrome; SPS; Ischiopubicpatellar syndrome; Ischiopatellar dysplasia (ORPHA:1509)
Gene: TBX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Micrognathia (HP:0000347)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Blepharitis (HP:0000498)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Microcornea (HP:0000482)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Pes planus (HP:0001763)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Hereditary clubfoot due to 17q23.1-q23.2 microduplication; Familial clubfoot due to 17q23.1q23.2 microduplication (ORPHA:238578)
Gene: TBX4
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Cataract (HP:0000518)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Sandal gap (HP:0001852)
Associated disease: Monosomy 17q23.1q23.2; 17q23.1q23.2 microdeletion syndrome; Del(17)(q23.1q23.2) (ORPHA:261279)
Gene: TBX4
Phenotype: Sandal gap (HP:0001852)
Associated disease: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION (OMIM:147891)
Gene: TBX4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Hereditary clubfoot due to 17q23.1-q23.2 microduplication; Familial clubfoot due to 17q23.1q23.2 microduplication (ORPHA:238578)
Gene: TBX4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Zimmer phocomelia; Tetraamelia-multiple malformations syndrome; PAPPAS; PAPPA syndrome (ORPHA:3301)
Gene: TBX4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC4A7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC4A7
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYOT
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Gene: MYOT
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Dysarthria (HP:0001260)
Associated disease: Distal myotilinopathy (ORPHA:98911)
Gene: MYOT
Phenotype: Inability to walk (HP:0002540)
Associated disease: Distal myotilinopathy (ORPHA:98911)