TaoMedAI/RareMedData huggingface dataset:
Gene: ADAMTSL2
Phenotype: Short fetal femur length (HP:0011428)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Short nose (HP:0003196)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Short nose (HP:0003196)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Phalangeal cone-shaped epiphyses (HP:0034281)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Joint contracture (HP:0034392)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Valvular pulmonary stenosis (HP:0034350)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Thin skin (HP:0000963)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Osteopenia (HP:0000938)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Irregular capital femoral epiphysis (HP:0005041)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Thickened helices (HP:0000391)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Long philtrum (HP:0000343)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Round face (HP:0000311)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Round face (HP:0000311)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Small nail (HP:0001792)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Short foot (HP:0001773)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Short foot (HP:0001773)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Myopia (HP:0000545)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: NOS1AP
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Generalized edema (HP:0007430)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: NOS1AP
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: NOS1AP
Phenotype: Nephrotic range proteinuria (HP:0012593)
Associated disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Gene: SEMA3E
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Microtia (HP:0008551)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Micropenis (HP:0000054)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: SEMA3E
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)
Gene: SEMA3E
Phenotype: Cleft palate (HP:0000175)
Associated disease: CHARGE syndrome; Hall-Hittner syndrome; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; CHARGE association (ORPHA:138)