TaoMedAI/RareMedData huggingface dataset:
Gene: SRP54
Phenotype: Short stature (HP:0004322)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Short stature (HP:0004322)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Coxa vara (HP:0002812)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Irregular ossification at anterior rib ends (HP:0006598)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Myocardial necrosis (HP:0001700)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP68
Phenotype: Bone marrow arrest at the promyelocytic stage (HP:0033607)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Dysplastic granulopoesis (HP:0012136)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Anorectal abscess (HP:0033150)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Anemia (HP:0001903)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP68
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE (OMIM:620534)
Gene: SRP72
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BONE MARROW FAILURE SYNDROME 1 (OMIM:614675)
Gene: SRP72
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: BONE MARROW FAILURE SYNDROME 1 (OMIM:614675)
Gene: SRP72
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: BONE MARROW FAILURE SYNDROME 1 (OMIM:614675)
Gene: SRP72
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: BONE MARROW FAILURE SYNDROME 1 (OMIM:614675)
Gene: SRP72
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE MARROW FAILURE SYNDROME 1 (OMIM:614675)
Gene: SRP72
Phenotype: Pancytopenia (HP:0001876)
Associated disease: BONE MARROW FAILURE SYNDROME 1 (OMIM:614675)
Gene: SRY
Phenotype: Dyscalculia (HP:0002442)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SRY
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SRY
Phenotype: Gonadal dysgenesis with female appearance, male (HP:0008723)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Tall stature (HP:0000098)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Tall stature (HP:0000098)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SRY
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SRY
Phenotype: Small scrotum (HP:0000046)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Chordee (HP:0000041)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SRY
Phenotype: Epispadias (HP:0000039)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Micropenis (HP:0000054)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Hypospadias (HP:0000047)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal male internal genitalia morphology (HP:0000022)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal male external genitalia morphology (HP:0000032)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SRY
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Azoospermia (HP:0000027)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Scoliosis (HP:0002650)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SRY
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SRY
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Muscle hypertrophy of the lower extremities (HP:0008968)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Streak ovary (HP:0010464)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)