TaoMedAI/RareMedData huggingface dataset:
Gene: CA2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: High palate (HP:0000218)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Prominence of the zygomatic bone (HP:0012370)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Prominent floating ribs (HP:0006641)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Macrotia (HP:0000400)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Craniofacial disproportion (HP:0005461)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Visual impairment (HP:0000505)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Visual loss (HP:0000572)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Renal tubular acidosis type 3; Osteopetrosis with renal tubular acidosis; Mixed RTA; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Mixed renal tubular acidosis; Marble brain disease (ORPHA:2785)
Gene: CA4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CA4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA5A
Phenotype: Hypoornithinemia (HP:0500163)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Lethargy (HP:0001254)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Abnormal urine sebacic acid concentration (HP:0500251)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Tachypnea (HP:0002789)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: 3-hydroxyisovaleric aciduria (HP:0033111)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Elevated urine suberic acid level (HP:0033213)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Elevated urine acetoacetic acid level (HP:0033407)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Hypernatremia (HP:0003228)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Jaundice (HP:0000952)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Elevated urinary 3-hydroxybutyric acid (HP:0040155)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA5A
Phenotype: Ketonuria (HP:0002919)
Associated disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Gene: CA8
Phenotype: Cerebellar ataxia associated with quadrupedal gait (HP:0009878)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Seizure (HP:0001250)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Ataxia (HP:0001251)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Slurred speech (HP:0001350)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Tremor (HP:0001337)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Short stature (HP:0004322)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Gene: CA8
Phenotype: Strabismus (HP:0000486)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Cataract (HP:0000518)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA8
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: CA12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Gene: CA12
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Gene: CA12
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Gene: CA12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Gene: CA12
Phenotype: Hypernatremic dehydration (HP:0004906)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Gene: CA12
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Gene: CA12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
Gene: CA12
Phenotype: Hyponatremia (HP:0002902)
Associated disease: HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)