TaoMedAI/RareMedData huggingface dataset:
Gene: KATNB1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Macrotia (HP:0000400)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Wide nose (HP:0000445)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Gene: KATNB1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: KATNB1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Gene: CCNO
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Atelectasis (HP:0100750)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Progressive (HP:0003676)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Gene: CCNO
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCNO
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TCIRG1
Phenotype: Facial paralysis (HP:0007209)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Tetany (HP:0001281)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Seizure (HP:0001250)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Chronic infection (HP:0031035)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Tremor (HP:0001337)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Bone pain (HP:0002653)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Pharyngitis (HP:0025439)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Sandwich appearance of vertebral bodies (HP:0004618)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Sandwich appearance of vertebral bodies (HP:0004618)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Apnea (HP:0002104)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Back pain (HP:0003418)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Facial palsy (HP:0010628)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Cellulitis (HP:0100658)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Femur fracture (HP:0031846)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Nystagmus (HP:0000639)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Fever (HP:0001945)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Leukemia (HP:0001909)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Anemia (HP:0001903)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Anemia (HP:0001903)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Carious teeth (HP:0000670)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)