TaoMedAI/RareMedData huggingface dataset:
Gene: CDC42
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Lymphedema (HP:0001004)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Lymphedema (HP:0001004)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Optic atrophy (HP:0000648)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Synophrys (HP:0000664)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Synophrys (HP:0000664)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Atypical behavior (HP:0000708)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Microcephaly (HP:0000252)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Camptodactyly (HP:0012385)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Low-set ears (HP:0000369)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Narrow forehead (HP:0000341)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Long philtrum (HP:0000343)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Long philtrum (HP:0000343)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Short philtrum (HP:0000322)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Short philtrum (HP:0000322)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Strabismus (HP:0000486)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Flared nostrils (HP:0000454)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Flared nostrils (HP:0000454)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Webbed neck (HP:0000465)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Webbed neck (HP:0000465)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Bulbous nose (HP:0000414)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Overlapping toe (HP:0001845)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Ptosis (HP:0000508)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Ptosis (HP:0000508)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Exotropia (HP:0000577)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Exotropia (HP:0000577)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Prominent forehead (HP:0011220)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDH1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: BLEPHAROCHEILODONTIC SYNDROME 1 (OMIM:119580)
Gene: CDH1
Phenotype: Atrophic gastritis (HP:0002582)
Associated disease: GASTRIC CANCER, HEREDITARY DIFFUSE (OMIM:137215)
Gene: CDH1
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CDH1
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: CDH1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Ectropion inferior-cleft lip and/or palate syndrome; Clefting-ectropion-conical teeth syndrome; Lagophthalmia-cleft lip and palate syndrome; Blepharocheilodontic syndrome; BCD syndrome; Elschnig syndrome; Blepharo-cheilo-odontic syndrome (ORPHA:1997)
Gene: CDH1
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)