TaoMedAI/RareMedData huggingface dataset:
Gene: GDF5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Triangular shaped middle phalanx of the 5th finger (HP:0009182)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Proximal/middle symphalangism of 5th finger (HP:0009177)
Associated disease: SYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Short hallux (HP:0010109)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Short hallux (HP:0010109)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Short tibia (HP:0005736)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Short tibia (HP:0005736)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Short tibia (HP:0005736)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Short humerus (HP:0005792)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Aplasia of the middle phalanges of the toes (HP:0100387)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Short femur (HP:0003097)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Short middle phalanx of the 4th finger (HP:0009295)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Cone-shaped epiphyses of the middle phalanges of the hand (HP:0010259)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Metacarpophalangeal synostosis (HP:0005880)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Enlarged epiphysis of the proximal phalanx of the 3rd finger (HP:0009349)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Proximal symphalangism (HP:0100264)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Proximal symphalangism (HP:0100264)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Triangular epiphysis of the middle phalanx of the 3rd finger (HP:0009331)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Enlarged epiphysis of the middle phalanx of the 3rd finger (HP:0009324)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Sarcoma (HP:0100242)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Medially deviated second toe (HP:0008096)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Pes valgus (HP:0008081)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: ASPED; Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
Gene: GDF5
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: GDF5
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Type C brachydactyly (HP:0009373)
Associated disease: Brachydactyly type C (ORPHA:93384)
Gene: GDF5
Phenotype: Type A2 brachydactyly (HP:0009372)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: GDF5
Phenotype: Triangular epiphysis of the proximal phalanx of the 3rd finger (HP:0009356)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Distal femoral bowing (HP:0005096)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Death in infancy (HP:0001522)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Death in infancy (HP:0001522)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of the fibula (HP:0006492)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type (ORPHA:968)
Gene: GDF5
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Micromelia (HP:0002983)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Micromelia (HP:0002983)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Radial bowing (HP:0002986)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Strabismus (HP:0000486)
Associated disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Gene: GDF5
Phenotype: Small nail (HP:0001792)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Short foot (HP:0001773)
Associated disease: Brachydactyly, Mohr-Wriedt type; Brachydactyly type A2 (ORPHA:93396)
Gene: GDF5
Phenotype: Short foot (HP:0001773)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Short foot (HP:0001773)
Associated disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Gene: GDF5
Phenotype: Short foot (HP:0001773)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Short foot (HP:0001773)
Associated disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Gene: GDF5
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Pes planus (HP:0001763)
Associated disease: SYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
Gene: GDF5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Du Pan syndrome; Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
Gene: GDF5
Phenotype: Wide nose (HP:0000445)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Gene: GDF5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Gene: GDF5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Gene: GDF5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Gene: GDF5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Hallux valgus (HP:0001822)
Associated disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Gene: GDF5
Phenotype: Short toe (HP:0001831)
Associated disease: Chondrodysplasia, Grebe type; Acromesomelic dysplasia, Grebe type (ORPHA:2098)
Gene: GDF5
Phenotype: Deviation of finger (HP:0004097)
Associated disease: DU PAN SYNDROME (OMIM:228900)
Gene: GDF5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NRIP1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Late onset (HP:0003584)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: NRIP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 (OMIM:618270)
Gene: DGCR6
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Hypotonia (HP:0001252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Open mouth (HP:0000194)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Cleft palate (HP:0000175)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Paranoia (HP:0011999)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Short stature (HP:0004322)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Emotional lability (HP:0000712)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Double aortic arch (HP:0011590)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Retrognathia (HP:0000278)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Microcephaly (HP:0000252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Unilateral primary pulmonary dysgenesis (HP:0006549)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Bulbous nose (HP:0000414)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR6
Phenotype: Talipes (HP:0001883)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: LZTR1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: NOONAN SYNDROME 10 (OMIM:616564)
Gene: LZTR1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Nevus (HP:0003764)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LZTR1
Phenotype: Seizure (HP:0001250)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: LZTR1
Phenotype: Seizure (HP:0001250)
Associated disease: NOONAN SYNDROME 2 (OMIM:605275)
Gene: LZTR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: LZTR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LZTR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)