TaoMedAI/RareMedData huggingface dataset:
Gene: PRNP
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Amyloidosis of peripheral nerves (HP:0100292)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Mask-like facies (HP:0000298)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Laryngeal stridor (HP:0006511)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Spastic hemiparesis (HP:0011099)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: PRNP
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Tachycardia (HP:0001649)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Loss of facial expression (HP:0005327)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Loss of facial expression (HP:0005327)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: PRNP
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Familial Alzheimer-like prion disease (ORPHA:280397)
Gene: PRNP
Phenotype: Perseverative thought (HP:0030223)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Late young adult onset (HP:0025710)
Associated disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES (OMIM:606688)
Gene: PRNP
Phenotype: Cerebral cortex with spongiform changes (HP:0006790)
Associated disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES (OMIM:606688)
Gene: PRNP
Phenotype: Cerebral cortex with spongiform changes (HP:0006790)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Weight loss (HP:0001824)
Associated disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Gene: PRNP
Phenotype: Weight loss (HP:0001824)
Associated disease: FFI; Fatal familial insomnia (ORPHA:466)
Gene: PRNP
Phenotype: Weight loss (HP:0001824)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Weight loss (HP:0001824)
Associated disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Gene: PRNP
Phenotype: Visual impairment (HP:0000505)
Associated disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Gene: PRNP
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Inherited CJD; Inherited Creutzfeldt-Jakob disease (ORPHA:282166)
Gene: PRNP
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: HDL1; Early-onset prion disease with prominent psychiatric features; Huntington disease-like 1 (ORPHA:157941)
Gene: PRNP
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Gene: PROC
Phenotype: Seizure (HP:0001250)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Infantile onset (HP:0003593)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Gangrene (HP:0100758)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Recurrent deep vein thrombosis (HP:0004850)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Warfarin-induced skin necrosis (HP:0001038)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Warfarin-induced skin necrosis (HP:0001038)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Purpura (HP:0000979)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Purpura (HP:0000979)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Thin skin (HP:0000963)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Gene: PROC
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PROC
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Gene: PROC
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Gene: PRODH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperprolinemia type 1; Proline oxidase deficiency (ORPHA:419)
Gene: PRODH
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hyperprolinemia type 1; Proline oxidase deficiency (ORPHA:419)
Gene: PRODH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA 4 (OMIM:600850)
Gene: PRODH
Phenotype: Nephropathy (HP:0000112)
Associated disease: Hyperprolinemia type 1; Proline oxidase deficiency (ORPHA:419)
Gene: PRODH
Phenotype: Status epilepticus (HP:0002133)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA 4 (OMIM:600850)
Gene: PRODH
Phenotype: Schizophrenia (HP:0100753)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Hyperprolinemia type 1; Proline oxidase deficiency (ORPHA:419)
Gene: PRODH
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: SCHIZOPHRENIA 4 (OMIM:600850)
Gene: PRODH
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: Hyperprolinemia type 1; Proline oxidase deficiency (ORPHA:419)
Gene: PRODH
Phenotype: EEG abnormality (HP:0002353)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Autistic behavior (HP:0000729)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Prolinuria (HP:0003137)
Associated disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Gene: PRODH
Phenotype: Prolinuria (HP:0003137)
Associated disease: Hyperprolinemia type 1; Proline oxidase deficiency (ORPHA:419)
Gene: PROP1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Gene: PROP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Lethargy (HP:0001254)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Seizure (HP:0001250)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Seizure (HP:0001250)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 2 (OMIM:262600)
Gene: PROP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Gene: PROP1
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 2 (OMIM:262600)
Gene: PROP1
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Gene: PROP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 2 (OMIM:262600)
Gene: PROP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Hypotension (HP:0002615)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Hypotension (HP:0002615)
Associated disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Gene: PROP1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROP1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Gene: PROP1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 2 (OMIM:262600)
Gene: PROP1
Phenotype: Inappropriate antidiuretic hormone secretion (HP:0031218)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Gene: PROP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Constipation (HP:0002019)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Constipation (HP:0002019)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: PROP1
Phenotype: Constipation (HP:0002019)
Associated disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Gene: PROP1
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)