TaoMedAI/RareMedData huggingface dataset:
Gene: PROP1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: PROP1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROP1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROS1
Phenotype: Seizure (HP:0001250)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Gangrene (HP:0100758)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Warfarin-induced skin necrosis (HP:0001038)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Blindness (HP:0000618)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Anemia (HP:0001903)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Thrombophlebitis (HP:0004418)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Purpura (HP:0000979)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Purpura (HP:0000979)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Purpura (HP:0000979)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Thin skin (HP:0000963)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Gene: PROS1
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Gene: PROS1
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROS1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Autosomal recessive thrombophilia due to congenital protein S deficiency; Severe hereditary thrombophilia due to congenital protein S deficiency (ORPHA:743)
Gene: PROX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PROX1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PRPH
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Muscle spasm (HP:0003394)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Sleep apnea (HP:0010535)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: PRPH
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPH
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PRPS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Language impairment (HP:0002463)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Tetraplegia (HP:0002445)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Macular coloboma (HP:0001116)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Severe demyelination of the white matter (HP:0007258)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Motor delay (HP:0001270)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Motor delay (HP:0001270)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Areflexia (HP:0001284)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Areflexia (HP:0001284)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Areflexia (HP:0001284)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Seizure (HP:0001250)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Ataxia (HP:0001251)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Ataxia (HP:0001251)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)