TaoMedAI/RareMedData huggingface dataset:
Gene: FZD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hypoplastic distal humeri (HP:0005025)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Ridged fingernail (HP:0008402)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Open bite (HP:0010807)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Glabellar hemangioma (HP:0001076)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Naevus flammeus of the eyelid (HP:0010733)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Median cleft palate (HP:0009099)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Short palm (HP:0004279)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Short palm (HP:0004279)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Anodontia (HP:0000674)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Oligodontia (HP:0000677)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Euryblepharon (HP:0012905)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Short nose (HP:0003196)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Short nose (HP:0003196)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Short humerus (HP:0005792)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Short humerus (HP:0005792)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Onychogryphosis of fingernail (HP:0040036)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Anterior wedging of T11 (HP:0004573)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Alopecia (HP:0001596)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Limited elbow flexion/extension (HP:0005060)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Limited elbow flexion (HP:0006376)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Dyspareunia (HP:0030016)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Long philtrum (HP:0000343)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Micromelia (HP:0002983)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal dominant omodysplasia (ORPHA:93328)
Gene: FZD2
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Wide nose (HP:0000445)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OMODYSPLASIA 2 (OMIM:164745)
Gene: FZD2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FZD2
Phenotype: Proptosis (HP:0000520)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: FZD2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FZD2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: G6PC1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Proteinuria (HP:0000093)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Lipemia retinalis (HP:0000660)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Gout (HP:0001997)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Short stature (HP:0004322)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Hypertension (HP:0000822)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Doll-like facies (HP:0000295)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Growth delay (HP:0001510)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PC1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: GLYCOGEN STORAGE DISEASE Ia (OMIM:232200)
Gene: G6PD
Phenotype: Decreased glucose-6-phosphate dehydrogenase level in blood (HP:0410179)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Middle age onset (HP:0003596)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: G6PD
Phenotype: Heinz bodies (HP:0020082)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)