TaoMedAI/RareMedData huggingface dataset:
Gene: CLCN5
Phenotype: Bone pain (HP:0002653)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Beta 2-microglobulinuria (HP:0025466)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Sparse bone trabeculae (HP:0002752)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Sparse bone trabeculae (HP:0002752)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Rickets (HP:0002748)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Rickets (HP:0002748)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Osteomalacia (HP:0002749)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Osteomalacia (HP:0002749)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Fibular bowing (HP:0010502)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Fibular bowing (HP:0010502)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Short stature (HP:0004322)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Short stature (HP:0004322)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Glycosuria (HP:0003076)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Glycosuria (HP:0003076)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Bulging epiphyses (HP:0003013)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Bulging epiphyses (HP:0003013)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Tibial bowing (HP:0002982)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Tibial bowing (HP:0002982)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Femoral bowing (HP:0002980)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Femoral bowing (HP:0002980)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN6
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Gene: CLCN7
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Facial paralysis (HP:0007209)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)