TaoMedAI/RareMedData huggingface dataset:
Gene: ZEB2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZEB2
Phenotype: Esotropia (HP:0000565)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Gene: ZEB2
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Myopia (HP:0000545)
Associated disease: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation; Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
Gene: ZEB2
Phenotype: Myopia (HP:0000545)
Associated disease: Hirschsprung disease and intellectual disability due to monosomy 2q22; Hirschsprung disease and intellectual disability due to del(2)(q22); Mowat-Wilson syndrome due to del(2)q(22); Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Mowat-Wilson syndrome due to 2q22 microdeletion (ORPHA:261537)
Gene: ZBTB24
Phenotype: Motor delay (HP:0001270)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Macroglossia (HP:0000158)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Malabsorption (HP:0002024)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Congenital onset (HP:0003577)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Anemia (HP:0001903)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Short stature (HP:0004322)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Short nose (HP:0003196)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Epicanthus (HP:0000286)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Epicanthus (HP:0000286)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Retrognathia (HP:0000278)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: High palate (HP:0000218)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Flat face (HP:0012368)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Low-set ears (HP:0000369)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Low-set ears (HP:0000369)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Micrognathia (HP:0000347)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Round face (HP:0000311)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Short chin (HP:0000331)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Anteverted nares (HP:0000463)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
Gene: ZBTB24
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: ZBTB24
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: PLEKHM1
Phenotype: Dense metaphyseal bands (HP:0100959)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 (OMIM:611497)
Gene: PLEKHM1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Cortical sclerosis of the iliac wing (HP:0033701)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 (OMIM:611497)
Gene: PLEKHM1
Phenotype: Chronic infection (HP:0031035)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 (OMIM:611497)
Gene: PLEKHM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Asthenia (HP:0025406)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Sandwich appearance of vertebral bodies (HP:0004618)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Back pain (HP:0003418)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 (OMIM:611497)
Gene: PLEKHM1
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Anemia (HP:0001903)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Cortical sclerosis (HP:0005652)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Osteosclerosis of the base of the skull (HP:0005746)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)