TaoMedAI/RareMedData huggingface dataset:
Gene: PIEZO2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Short neck (HP:0000470)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Short neck (HP:0000470)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Pes planus (HP:0001763)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Protruding ear (HP:0000411)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: PIEZO2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Sandal gap (HP:0001852)
Associated disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Gene: PIEZO2
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Ptosis (HP:0000508)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Ptosis (HP:0000508)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Ptosis (HP:0000508)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Gene: PIEZO2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Deviation of finger (HP:0004097)
Associated disease: Distal arthrogryposis type IIB; Distal arthrogryposis type 5; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Oculomelic amyoplasia; Distal arthrogryposis with ophthalmoplegia (ORPHA:1154)
Gene: PIEZO2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: PIEZO2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: PIEZO2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Gene: PIEZO2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Gene: PIEZO2
Phenotype: Talipes (HP:0001883)
Associated disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type IIA; Distal arthrogryposis type 3 (ORPHA:376)
Gene: PIEZO2
Phenotype: Talipes (HP:0001883)
Associated disease: Marden-Walker syndrome (ORPHA:2461)
Gene: NSUN3
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: NSUN3
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Gene: FAM111A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Seizure (HP:0001250)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Seizure (HP:0001250)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Micropenis (HP:0000054)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Congenital hypoparathyroidism (HP:0008198)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Transient hypophosphatemia (HP:0008285)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Congenital onset (HP:0003577)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Congenital onset (HP:0003577)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Severe short stature (HP:0003510)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Papilledema (HP:0001085)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Papilledema (HP:0001085)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Anemia (HP:0001903)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Anemia (HP:0001903)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Carious teeth (HP:0000670)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Short stature (HP:0004322)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Slender long bone (HP:0003100)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Thin ribs (HP:0000883)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Abnormality of the medullary cavity of the long bones (HP:0100253)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Stenosis of the medullary cavity of the long bones (HP:0100254)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Thin long bone diaphyses (HP:0006470)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Death in infancy (HP:0001522)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Ascites (HP:0001541)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Growth delay (HP:0001510)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Retinal calcification (HP:0007862)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Retinal calcification (HP:0007862)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)