TaoMedAI/RareMedData huggingface dataset:
Gene: TRAPPC2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Short neck (HP:0000470)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SET
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Few cafe-au-lait spots (HP:0007429)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Falls (HP:0002527)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Protruding tongue (HP:0010808)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Incoordination (HP:0002311)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Inverted nipples (HP:0003186)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Short chin (HP:0000331)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Pointed chin (HP:0000307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SET
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 (OMIM:618106)
Gene: SFRP4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Absent paranasal sinuses (HP:0002689)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Wormian bones (HP:0002645)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Back pain (HP:0003418)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Thin calvarium (HP:0010539)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Adult onset (HP:0003581)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Carious teeth (HP:0000670)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Carious teeth (HP:0000670)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Enlarged metaphyses (HP:0003051)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Childhood onset (HP:0011463)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Arthralgia (HP:0002829)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Arthralgia (HP:0002829)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Genu valgum (HP:0002857)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Genu valgum (HP:0002857)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Medial widening of clavicles (HP:0006599)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PYLE DISEASE (OMIM:265900)
Gene: SFRP4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)