TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM67
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Coloboma (HP:0000589)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: TMEM67
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM67
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM67
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM67
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Gene: TMEM67
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: JOUBERT SYNDROME 6 (OMIM:610688)
Gene: TMEM67
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: COACH SYNDROME 1 (OMIM:216360)
Gene: TMEM67
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM67
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCARF2
Phenotype: Tapered finger (HP:0001182)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Radioulnar subluxation (HP:6000506)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Abnormal columella morphology (HP:0009929)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Abnormal aryepiglottic fold morphology (HP:0008744)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Camptodactyly of 2nd-5th fingers (HP:0001215)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Slender metacarpals (HP:0006236)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Slender metacarpals (HP:0006236)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Cleft palate (HP:0000175)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Long metacarpals (HP:0010493)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Congenital onset (HP:0003577)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Knee contracture (HP:0034671)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Sclerocornea (HP:0000647)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Dental crowding (HP:0000678)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Dental crowding (HP:0000678)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Short ribs (HP:0000773)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Slender long bone (HP:0003100)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Thin ribs (HP:0000883)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Thin ribs (HP:0000883)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Short clavicles (HP:0000894)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Joint contracture (HP:0034392)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Elbow contracture (HP:0034391)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Elbow contracture (HP:0034391)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Stridor (HP:0010307)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Malar flattening (HP:0000272)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Distal ulnar hypoplasia (HP:0005033)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: High palate (HP:0000218)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: High palate (HP:0000218)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Genu valgum (HP:0002857)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Small earlobe (HP:0000385)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Micrognathia (HP:0000347)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Femoral bowing (HP:0002980)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Triangular face (HP:0000325)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Triangular face (HP:0000325)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Glenoid fossa hypoplasia (HP:0006633)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Glenoid fossa hypoplasia (HP:0006633)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Narrow nose (HP:0000460)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Narrow nose (HP:0000460)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Narrow foot (HP:0001786)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Pes planus (HP:0001763)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Protruding ear (HP:0000411)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Marden-Walker-like syndrome; VDEGS; Van den Ende-Gupta syndrome (ORPHA:2460)
Gene: SCARF2
Phenotype: Long hallux (HP:0001847)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Gene: SCARF2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCARF2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCARF2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)