TaoMedAI/RareMedData huggingface dataset:
Gene: FOXP3
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Cachexia (HP:0004326)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Villous atrophy (HP:0011473)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Abnormal blood ion concentration (HP:0003111)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Alopecia (HP:0001596)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Alopecia (HP:0001596)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Decreased double-negative T cell proportion (HP:0031401)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Allergy (HP:0012393)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Gastritis (HP:0005263)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Membranous nephropathy (HP:0012578)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: TBX22
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Coronal hypospadias (HP:0008743)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Hypospadias (HP:0000047)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Hypospadias (HP:0000047)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED (OMIM:303400)
Gene: TBX22
Phenotype: Cleft palate (HP:0000175)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Cleft palate (HP:0000175)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Cleft palate (HP:0000175)
Associated disease: CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED (OMIM:303400)
Gene: TBX22
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED (OMIM:303400)
Gene: TBX22
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Dimple chin (HP:0010751)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Short stature (HP:0004322)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Short stature (HP:0004322)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED (OMIM:303400)
Gene: TBX22
Phenotype: Epicanthus (HP:0000286)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Malar flattening (HP:0000272)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Flat face (HP:0012368)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Macrotia (HP:0000400)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Macrotia (HP:0000400)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Microcornea (HP:0000482)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Protruding ear (HP:0000411)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Short toe (HP:0001831)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Coloboma (HP:0000589)
Associated disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Gene: TBX22
Phenotype: Coloboma (HP:0000589)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: TBX22
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Abruzzo-Erickson syndrome; Cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Gene: SOST
Phenotype: Syndactyly (HP:0001159)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Facial palsy secondary to cranial hyperostosis (HP:0007285)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Tall stature (HP:0000098)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Elevated circulating type I procollagen aminoterminal propeptide concentration (HP:6000749)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Facial diplegia (HP:0001349)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Large sella turcica (HP:0002690)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Sclerotic scapulae (HP:0001474)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Infantile onset (HP:0003593)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Large face (HP:0100729)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Facial palsy (HP:0010628)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Facial palsy (HP:0010628)
Associated disease: Hyperphosphatasemia tarda; Van Buchem disease; Hyperostosis corticalis generalisata (ORPHA:3416)
Gene: SOST
Phenotype: Facial palsy (HP:0010628)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Progressive (HP:0003676)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Headache (HP:0002315)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Headache (HP:0002315)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Headache (HP:0002315)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Curved distal phalanges of the hand (HP:0009838)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Papilledema (HP:0001085)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Papilledema (HP:0001085)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: VAN BUCHEM DISEASE (OMIM:239100)
Gene: SOST
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SOST
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Gene: SOST
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: SOST
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Blurred vision (HP:0000622)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOST
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOST
Phenotype: Tooth malposition (HP:0000692)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SCLEROSTEOSIS 1 (OMIM:269500)
Gene: SOST
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)