TaoMedAI/RareMedData huggingface dataset:
Gene: CTNNA1
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: CTNNA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: CTNNA1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Drusen (HP:0011510)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Foveal hyperpigmentation (HP:0008001)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: CTNNA1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Pattern dystrophy of the retina (HP:0007963)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 2 (OMIM:608970)
Gene: CTNNA1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CTNNA1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CTNNA2
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Hypertonia (HP:0001276)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Ataxia (HP:0001251)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Inability to walk (HP:0002540)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Absent speech (HP:0001344)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Pachygyria (HP:0001302)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Short stature (HP:0004322)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNNA2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Gene: CTNS
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Seizure (HP:0001250)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Proteinuria (HP:0000093)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Proteinuria (HP:0000093)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Proteinuria (HP:0000093)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Polyuria (HP:0000103)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Rickets (HP:0002748)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Rickets (HP:0002748)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Rickets (HP:0002748)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Constipation (HP:0002019)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Elevated intracellular cystine (HP:0003358)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Elevated intracellular cystine (HP:0003358)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Dysphagia (HP:0002015)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Vomiting (HP:0002013)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Vomiting (HP:0002013)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Abnormality of vitamin D metabolism (HP:0100511)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Infantile onset (HP:0003593)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Ocular pain (HP:0200026)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNS
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Episodic metabolic acidosis (HP:0004911)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Abnormal tubulointerstitial morphology (HP:0001969)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Blindness (HP:0000618)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Photophobia (HP:0000613)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Photophobia (HP:0000613)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNS
Phenotype: Photophobia (HP:0000613)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Photophobia (HP:0000613)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Photophobia (HP:0000613)
Associated disease: Adult-onset cystinosis; Non-nephropathic cystinosis; Ocular cystinosis (ORPHA:411641)
Gene: CTNS
Phenotype: Photophobia (HP:0000613)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Dehydration (HP:0001944)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Dehydration (HP:0001944)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Dehydration (HP:0001944)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Acidosis (HP:0001941)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Bone marrow cystine accumulation (HP:6001033)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hepatic cystine accumulation (HP:6001032)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Cystine nephrolithiasis (HP:6001031)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Polydipsia (HP:0001959)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Polydipsia (HP:0001959)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Polydipsia (HP:0001959)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Abnormal long bone morphology (HP:0011314)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Short stature (HP:0004322)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Reduced blood urea nitrogen (HP:0031969)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Glycosuria (HP:0003076)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Glycosuria (HP:0003076)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Glycosuria (HP:0003076)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Poor appetite (HP:0004396)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Young adult onset (HP:0011462)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNS
Phenotype: Hematuria (HP:0000790)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Abnormal blood ion concentration (HP:0003111)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Myopathy (HP:0003198)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Primary hypothyroidism (HP:0000832)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Male infertility (HP:0003251)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNS
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)