TaoMedAI/RareMedData huggingface dataset:
Gene: IRF2BPL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES (OMIM:618088)
Gene: IRF2BPL
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES (OMIM:618088)
Gene: IRF2BPL
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES (OMIM:618088)
Gene: IRF2BPL
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES (OMIM:618088)
Gene: IRF2BPL
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES (OMIM:618088)
Gene: POPDC3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Falls (HP:0002527)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Difficulty running (HP:0009046)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: POPDC3
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 (OMIM:618848)
Gene: SEMA4A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Visual field defect (HP:0001123)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Epiphora (HP:0009926)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Hypertonia (HP:0001276)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Seizure (HP:0001250)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Hypotonia (HP:0001252)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Dysarthria (HP:0001260)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 35 (OMIM:610282)
Gene: SEMA4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Stomach cancer (HP:0012126)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 35 (OMIM:610282)
Gene: SEMA4A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Malabsorption (HP:0002024)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Constipation (HP:0002019)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Migraine (HP:0002076)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Dysgraphia (HP:0010526)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Paresthesia (HP:0003401)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Developmental regression (HP:0002376)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Memory impairment (HP:0002354)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Blindness (HP:0000618)
Associated disease: RETINITIS PIGMENTOSA 35 (OMIM:610282)
Gene: SEMA4A
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 35 (OMIM:610282)
Gene: SEMA4A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Hallucinations (HP:0000738)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Irritability (HP:0000737)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Anxiety (HP:0000739)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Depression (HP:0000716)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Fatigue (HP:0012378)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 35 (OMIM:610282)
Gene: SEMA4A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CONE-ROD DYSTROPHY 10 (OMIM:610283)
Gene: SEMA4A
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: SEMA4A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SEMA4A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: SEMA4A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA4A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: STRA6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Aplasia/Hypoplasia of the pancreas (HP:0100800)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Neonatal death (HP:0003811)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Abnormal spleen morphology (HP:0025408)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Bilateral lung agenesis (HP:0005944)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Alveolar capillary dysplasia (HP:0033208)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Renal malrotation (HP:0004712)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Severe short stature (HP:0003510)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Multilobulated spleen (HP:0020186)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Short stature (HP:0004322)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)