TaoMedAI/RareMedData huggingface dataset:
Gene: SLC29A3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hernia (HP:0100790)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Histiocytosis (HP:0100727)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Histiocytosis (HP:0100727)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Developmental regression (HP:0002376)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Corneal arcus (HP:0001084)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Tibial torsion (HP:0100694)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Fever (HP:0001945)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Recurrent fever (HP:0001954)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Short stature (HP:0004322)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Short stature (HP:0004322)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Short stature (HP:0004322)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Upper eyelid edema (HP:0012724)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Scleroderma (HP:0100324)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Left superior vena cava draining to coronary sinus (HP:0011670)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Retrognathia (HP:0000278)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Full cheeks (HP:0000293)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Alopecia (HP:0001596)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Stiff skin (HP:0030053)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Abnormal cardiovascular system physiology (HP:0011025)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Retroperitoneal fibrosis (HP:0005200)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Pes planus (HP:0001763)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Pes planus (HP:0001763)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Proptosis (HP:0000520)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Proptosis (HP:0000520)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Irregular acetabular roof (HP:0008833)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Wide proximal femoral metaphysis (HP:0008783)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Abnormality of the epiphysis of the femoral head (HP:0010574)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)