TaoMedAI/RareMedData huggingface dataset:
Gene: B4GALT7
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B4GALT7
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B4GALT7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B4GALT7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B4GALT7
Phenotype: Proptosis (HP:0000520)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Gene: B4GALT7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B4GALT7
Phenotype: Telecanthus (HP:0000506)
Associated disease: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome; EDS progeroid type 1; EDS with short stature and limb anomalies; spEDS-B4GALT7; B4GALT7-related spondylodysplastic EDS (ORPHA:75496)
Gene: B4GALT7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B4GALT7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Gene: B4GALT7
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B4GALT7
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B4GALT7
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B4GALT7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B4GALT7
Phenotype: Hypermetropia (HP:0000540)
Associated disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Gene: B4GALT7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B4GALT7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B4GALT7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B4GALT7
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: VPS45
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Recurrent infections (HP:0002719)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Anemia (HP:0001903)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: VPS45
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Gene: PARK7
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Postural tremor (HP:0002174)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Dyskinesia (HP:0100660)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Blepharospasm (HP:0000643)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Leg dystonia (HP:0031959)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Anxiety (HP:0000739)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Gene: PARK7
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PARK7
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: TMC6
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 (OMIM:226400)
Gene: TMC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 (OMIM:226400)
Gene: TMC6
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Skin plaque (HP:0200035)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Papule (HP:0200034)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Pustule (HP:0200039)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Verrucae (HP:0200043)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Verrucae (HP:0200043)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 (OMIM:226400)
Gene: TMC6
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 (OMIM:226400)
Gene: TMC6
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: TMC6
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CTRC
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Epigastric pain (HP:0410019)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Nausea (HP:0002018)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Abnormal pancreatic duct morphology (HP:0030992)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Vomiting (HP:0002013)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Insulin-dependent but ketosis-resistant diabetes (HP:0008205)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Pleural effusion (HP:0002202)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Fever (HP:0001945)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Malnutrition (HP:0004395)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Jaundice (HP:0000952)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Chronic calcifying pancreatitis (HP:0005236)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Pancreatic pseudocyst (HP:0005206)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: CTRC
Phenotype: Splanchnic vein thrombosis (HP:0030247)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CTRC
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Weight loss (HP:0001824)
Associated disease: TCP; Tropical pancreatitis; Tropical calcific chronic pancreatitis (ORPHA:103918)
Gene: CTRC
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: U2AF2
Phenotype: Microtia (HP:0008551)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Retrognathia (HP:0000278)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Pes planus (HP:0001763)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Ptosis (HP:0000508)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Exotropia (HP:0000577)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: U2AF2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES (OMIM:620535)
Gene: EXOSC8
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Motor delay (HP:0001270)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Seizure (HP:0001250)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Ataxia (HP:0001251)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)