TaoMedAI/RareMedData huggingface dataset:
Gene: PTDSS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Short stature (HP:0004322)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Elbow ankylosis (HP:0003070)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Broad clavicles (HP:0000916)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Broad ribs (HP:0000885)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Thin skin (HP:0000963)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Sparse hair (HP:0008070)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Broad forehead (HP:0000337)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Macrotia (HP:0000400)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Macrotia (HP:0000400)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Progressive sclerosis of skull base (HP:0005477)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Facial hyperostosis (HP:0005465)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KEAP1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Multinodular goiter (HP:0005987)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Pleuropulmonary blastoma (HP:0100528)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Sertoli cell neoplasm (HP:0100619)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Testicular seminoma (HP:0100617)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Cerebellar medulloblastoma (HP:0007129)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Medulloepithelioma (HP:0030071)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: KEAP1
Phenotype: Alveolar rhabdomyosarcoma (HP:0006779)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: CUL7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Joint dislocation (HP:0001373)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Hypospadias (HP:0000047)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Hypospadias (HP:0000047)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Scoliosis (HP:0002650)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Midface retrusion (HP:0011800)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Scapular winging (HP:0003691)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Scapular winging (HP:0003691)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)
Gene: CUL7
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CUL7
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUL7
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CUL7
Phenotype: Short stature (HP:0004322)
Associated disease: THREE M SYNDROME 1 (OMIM:273750)