TaoMedAI/RareMedData huggingface dataset:
Gene: ANTXR2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Aplasia/Hypoplasia of the thymus (HP:0010515)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Progressive (HP:0003676)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Lymphedema (HP:0001004)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Urticaria (HP:0001025)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Papule (HP:0200034)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Thickened skin (HP:0001072)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Short palm (HP:0004279)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Narrow face (HP:0000275)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Arthralgia (HP:0002829)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Death in infancy (HP:0001522)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Growth delay (HP:0001510)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Micromelia (HP:0002983)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Short neck (HP:0000470)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP70
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 41 (OMIM:618670)
Gene: CFAP70
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 41 (OMIM:618670)
Gene: CFAP70
Phenotype: Tapered sperm head (HP:0032562)
Associated disease: SPERMATOGENIC FAILURE 41 (OMIM:618670)
Gene: CFAP70
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 41 (OMIM:618670)
Gene: CFAP70
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 41 (OMIM:618670)
Gene: CFAP70
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 41 (OMIM:618670)
Gene: MMP21
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Right aortic arch (HP:0012020)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MMP21
Phenotype: Hypoplasia of right ventricle (HP:0004762)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MMP21
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MMP21
Phenotype: Common atrium (HP:0011565)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Mitral atresia (HP:0011560)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Heterotaxy (HP:0030853)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Cyanosis (HP:0000961)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Interrupted inferior vena cava with azygous continuation (HP:0011671)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MMP21
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MMP21
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Polysplenia (HP:0001748)
Associated disease: HETEROTAXY, VISCERAL, 7, AUTOSOMAL (OMIM:616749)
Gene: MMP21
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FRA10AC1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Clinodactyly of the 4th toe (HP:0011918)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Long nose (HP:0003189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Short sternum (HP:0000879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)