TaoMedAI/RareMedData huggingface dataset:
Gene: HMGA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Triangular face (HP:0000325)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Triangular face (HP:0000325)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Triangular face (HP:0000325)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Abnormal nostril morphology (HP:0005288)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Microphallus (HP:0030260)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Wide nose (HP:0000445)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HMGA2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: HMGA2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Gene: HMGA2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: HMGA2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HMGA2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Tessier cleft (HP:0002006)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Tessier cleft (HP:0002006)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Bifid nose (HP:0011803)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Pericallosal lipoma (HP:0006931)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Cranium bifidum occultum (HP:0004423)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Pectoral muscle hypoplasia/aplasia (HP:0005258)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Widow's peak (HP:0000349)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Hypoplasia of the frontal bone (HP:0005466)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Cataract (HP:0000518)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALX1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Ptosis (HP:0000508)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Gene: ALX1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ALX1-related frontonasal dysplasia; Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; Frontonasal dysplasia type 3 (ORPHA:306542)
Gene: ALX1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALX1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT88
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT88
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)