TaoMedAI/RareMedData huggingface dataset:
Gene: CFAP410
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CA2
Phenotype: Retinal atrophy (HP:0001105)
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: Intellectual disability, severe (HP:0010864)
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: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Cranial nerve compression (HP:0001293)
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: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Cerebral calcification (HP:0002514)
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: Cerebral calcification (HP:0002514)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Thickened calvaria (HP:0002684)
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: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Plagiocephaly (HP:0001357)
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: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Specific learning disability (HP:0001328)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Entrapment neuropathy (HP:0012181)
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: Thick lower lip vermilion (HP:0000179)
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: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Abnormality of the dentition (HP:0000164)
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: Narrow mouth (HP:0000160)
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: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Persistence of primary teeth (HP:0006335)
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: Hydronephrosis (HP:0000126)
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: Recurrent fractures (HP:0002757)
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: Hepatosplenomegaly (HP:0001433)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Proximal renal tubular acidosis (HP:0002049)
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: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Basal ganglia calcification (HP:0002135)
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: Tetraparesis (HP:0002273)
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: Hepatomegaly (HP:0002240)
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: Distal renal tubular acidosis (HP:0008341)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Distal renal tubular acidosis (HP:0008341)
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: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Bone marrow hypocellularity (HP:0005528)
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: Cranial nerve paralysis (HP:0006824)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Optic atrophy (HP:0000648)
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: Extramedullary hematopoiesis (HP:0001978)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Renal tubular acidosis (HP:0001947)
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: Metabolic acidosis (HP:0001942)
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: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Anemia (HP:0001903)
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 metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Tooth malposition (HP:0000692)
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: Dental malocclusion (HP:0000689)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Abnormal facial shape (HP:0001999)
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: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Short stature (HP:0004322)
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 stature (HP:0004322)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Pectus excavatum (HP:0000767)
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: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Nephrolithiasis (HP:0000787)
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: Elliptocytosis (HP:0004445)
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: Cranial hyperostosis (HP:0004437)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Elevated serum acid phosphatase (HP:0003148)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Gene: CA2
Phenotype: Elevated serum acid phosphatase (HP:0003148)
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: Secondary hyperparathyroidism (HP:0000867)
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: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
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: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CA2
Phenotype: Enlarged tonsils (HP:0030812)
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: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Retrognathia (HP:0000278)
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: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)