TaoMedAI/RareMedData huggingface dataset:
Gene: ALPL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Gene: ALPL
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Proptosis (HP:0000520)
Associated disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Gene: ALPL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Gene: ALPL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: ALPL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALPL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALPL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALPL
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ALX3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Congenital conductive hearing impairment (HP:0008591)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Sporadic (HP:0003745)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Dermoid cyst (HP:0025247)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Frontal cutaneous lipoma (HP:0007541)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Short columella (HP:0002000)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Basal encephalocele (HP:0011817)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Bifid nose (HP:0011803)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Encephalocele (HP:0002084)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Median cleft palate (HP:0009099)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Iris coloboma (HP:0000612)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Anterior basal encephalocele (HP:0006992)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Pericallosal lipoma (HP:0006931)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Pericallosal lipoma (HP:0006931)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Cranium bifidum occultum (HP:0004423)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Cranium bifidum occultum (HP:0004423)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Bifid tongue (HP:0010297)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Pectoral muscle hypoplasia/aplasia (HP:0005258)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Widow's peak (HP:0000349)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Widow's peak (HP:0000349)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Strabismus (HP:0000486)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Midline nasal groove (HP:0004112)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Cataract (HP:0000518)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Cataract (HP:0000518)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Ptosis (HP:0000508)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Ptosis (HP:0000508)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Coloboma (HP:0000589)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Gene: ALX3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ALX3-related frontonasal dysplasia; Frontorhiny; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Gene: ALX3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMBN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
Gene: AMBN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)