TaoMedAI/RareMedData huggingface dataset:
Gene: CLCN7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Chronic infection (HP:0031035)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Arthritis (HP:0001369)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Tremor (HP:0001337)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Bone pain (HP:0002653)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Bone pain (HP:0002653)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Abnormality of multiple cell lineages in the bone marrow (HP:0012145)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Mandibular osteomyelitis (HP:0007626)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Mandibular osteomyelitis (HP:0007626)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Sandwich appearance of vertebral bodies (HP:0004618)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Apnea (HP:0002104)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Back pain (HP:0003418)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Facial palsy (HP:0010628)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Facial palsy (HP:0010628)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Facial palsy (HP:0010628)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Neonatal onset (HP:0003623)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Blindness (HP:0000618)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Anemia (HP:0001903)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Anemia (HP:0001903)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Anemia (HP:0001903)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Carious teeth (HP:0000670)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Short stature (HP:0004322)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Cortical sclerosis (HP:0005652)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Recurrent long bone fractures (HP:0003084)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Childhood onset (HP:0011463)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Narrow chest (HP:0000774)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Tooth abscess (HP:0030757)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Osteosclerosis of the base of the skull (HP:0005746)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Osteosclerosis of the base of the skull (HP:0005746)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: CLCN7
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Elevated serum acid phosphatase (HP:0003148)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Gene: CLCN7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Sclerotic vertebral endplates (HP:0004576)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN7
Phenotype: Pallor (HP:0000980)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN7
Phenotype: Petechiae (HP:0000967)
Associated disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Gene: CLCN7
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Osteopetrosis autosomal dominant type 2; Albers-Schönberg osteopetrosis (ORPHA:53)
Gene: CLCN7
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: CLCN7
Phenotype: Epicanthus (HP:0000286)
Associated disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Gene: CLCN7
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)