TaoMedAI/RareMedData huggingface dataset:
Gene: TBX15
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Anterior rounding of vertebral bodies (HP:0008488)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Prominent protruding coccyx (HP:0008472)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Short stature (HP:0004322)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Mesomelia (HP:0003027)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Long clavicles (HP:0000890)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Short femur (HP:0003097)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Hip dislocation (HP:0002827)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Camptodactyly (HP:0012385)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Low-set ears (HP:0000369)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Micrognathia (HP:0000347)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Strabismus (HP:0000486)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Microcornea (HP:0000482)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Deeply set eye (HP:0000490)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Short neck (HP:0000470)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Short neck (HP:0000470)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Microtia, first degree (HP:0011266)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Microphthalmia (HP:0000568)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXA2R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXA2R
Phenotype: Impaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXA2R
Phenotype: Abnormal platelet count (HP:0011873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXA2R
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXA2R
Phenotype: Infantile onset (HP:0003593)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXA2R
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXA2R
Phenotype: Ecchymosis (HP:0031364)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXA2R
Phenotype: Epistaxis (HP:0000421)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Gene: TBXAS1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Refractory anemia (HP:0005505)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Anemia (HP:0001903)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)