TaoMedAI/RareMedData huggingface dataset:
Gene: LAMTOR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency (ORPHA:90023)
Gene: LAMTOR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: LAMTOR2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: LAMTOR2
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: LAMTOR2
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency (ORPHA:90023)
Gene: LAMTOR2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency (ORPHA:90023)
Gene: LAMTOR2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Gene: MRPS28
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Dysphagia (HP:0002015)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Short palm (HP:0004279)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Dehydration (HP:0001944)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Platyspondyly (HP:0000926)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Cone-shaped epiphyses of the distal phalanges of the hand (HP:0010248)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Long philtrum (HP:0000343)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Round face (HP:0000311)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Short neck (HP:0000470)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Cataract (HP:0000518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: MRPS28
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Gene: COA3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Epicanthus (HP:0000286)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Obesity (HP:0001513)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: COA3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Gene: DCPS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Seizure (HP:0001250)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Hypotonia (HP:0001252)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Inability to walk (HP:0002540)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Absent speech (HP:0001344)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Gait ataxia (HP:0002066)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Congenital onset (HP:0003577)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Short nose (HP:0003196)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Microcephaly (HP:0000252)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Flat face (HP:0012368)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Low-set ears (HP:0000369)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Deeply set eye (HP:0000490)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Chronic constipation (HP:0012450)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: DCPS
Phenotype: Sandal gap (HP:0001852)
Associated disease: AL-RAQAD SYNDROME (OMIM:616459)
Gene: OSTM1
Phenotype: Fetal distress (HP:0025116)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Poor head control (HP:0002421)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Hypertonia (HP:0001276)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Seizure (HP:0001250)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Stillbirth (HP:0003826)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Clonus (HP:0002169)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Facial palsy (HP:0010628)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Increased skull ossification (HP:0004330)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Irritability (HP:0000737)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Mydriasis (HP:0011499)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Gene: OSTM1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Ascites (HP:0001541)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Hip subluxation (HP:0030043)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Growth delay (HP:0001510)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Gene: OSTM1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OSTM1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OSTM1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)