TaoMedAI/RareMedData huggingface dataset:
Gene: LOX
Phenotype: Astigmatism (HP:0000483)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Strabismus (HP:0000486)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Strabismus (HP:0000486)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: LOX
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: LOX
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOX
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: LOX
Phenotype: Myopia (HP:0000545)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Gene: LOX
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: LOX
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: LOX
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: LOXL1
Phenotype: Lens subluxation (HP:0001132)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Anisocoria (HP:0009916)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Rigidity (HP:0002063)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Phakodonesis (HP:0012629)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Pseudoexfoliation (HP:0012627)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Iris hypoperfusion (HP:0012635)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Retinal vein occlusion (HP:0012636)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Pigment deposition in the trabecular meshwork (HP:0012631)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Asymmetry of intraocular pressure (HP:0012633)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Mydriasis (HP:0011499)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Cataract (HP:0000518)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Abnormal lens morphology (HP:0000517)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LOXL1
Phenotype: Glaucoma (HP:0000501)
Associated disease: EXFOLIATION SYNDROME (OMIM:177650)
Gene: LPL
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Lactescent serum (HP:0031028)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Nausea (HP:0002018)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Increased VLDL cholesterol concentration (HP:0003362)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Vomiting (HP:0002013)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Eruptive xanthomas (HP:0001013)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Elevated circulating apolipoprotein A-II concentration (HP:0031800)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Elevated circulating apolipoprotein B concentration (HP:0031798)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Lipemia retinalis (HP:0000660)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Jaundice (HP:0000952)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Increased circulating chylomicron concentration (HP:0012238)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3 (OMIM:144250)
Gene: LPL
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPL
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HYPERLIPOPROTEINEMIA, TYPE I (OMIM:238600)
Gene: LPP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: LPP
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: LPP
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: LRP1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Epiphora (HP:0009926)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Comedo (HP:0025249)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: DEVELOPMENTAL DYSPLASIA OF THE HIP 3 (OMIM:620690)
Gene: LRP1
Phenotype: Hypoplastic pilosebaceous units (HP:0007515)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DYSPLASIA OF THE HIP 3 (OMIM:620690)
Gene: LRP1
Phenotype: Abnormal perifollicular morphology (HP:0031285)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DYSPLASIA OF THE HIP 3 (OMIM:620690)
Gene: LRP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Progressive alopecia (HP:0002287)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Facial erythema (HP:0001041)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Papule (HP:0200034)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Folliculitis (HP:0025084)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Erythema (HP:0010783)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Erythema (HP:0010783)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Photophobia (HP:0000613)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Heart block (HP:0012722)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Abnormal cheek morphology (HP:0004426)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Hypoplastic acetabulae (HP:0003274)
Associated disease: DEVELOPMENTAL DYSPLASIA OF THE HIP 3 (OMIM:620690)
Gene: LRP1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Periauricular skin pits (HP:0100277)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Skin pit (HP:0100276)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Pruritus (HP:0000989)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Pruritus (HP:0000989)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Abnormal forehead morphology (HP:0000290)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Abnormality of the chin (HP:0000306)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Blepharitis (HP:0000498)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Abnormal epidermal morphology (HP:0011124)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Gene: LRP1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Gene: LRP1
Phenotype: Pain (HP:0012531)
Associated disease: Folliculitis ulerythematosa reticulate; Atrophoderma vermiculata (ORPHA:79100)
Gene: LRP2
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Seizure (HP:0001250)
Associated disease: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; DBS/FOAR syndrome; Holmes-Schepens syndrome; FOAR syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; Donnai-Barrow syndrome; Facio-oculo-acoustico-renal syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome (ORPHA:2143)
Gene: LRP2
Phenotype: Seizure (HP:0001250)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; DBS/FOAR syndrome; Holmes-Schepens syndrome; FOAR syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; Donnai-Barrow syndrome; Facio-oculo-acoustico-renal syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome (ORPHA:2143)
Gene: LRP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; DBS/FOAR syndrome; Holmes-Schepens syndrome; FOAR syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; Donnai-Barrow syndrome; Facio-oculo-acoustico-renal syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome (ORPHA:2143)
Gene: LRP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; DBS/FOAR syndrome; Holmes-Schepens syndrome; FOAR syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; Donnai-Barrow syndrome; Facio-oculo-acoustico-renal syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome (ORPHA:2143)
Gene: LRP2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; DBS/FOAR syndrome; Holmes-Schepens syndrome; FOAR syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; Donnai-Barrow syndrome; Facio-oculo-acoustico-renal syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome (ORPHA:2143)
Gene: LRP2
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; DBS/FOAR syndrome; Holmes-Schepens syndrome; FOAR syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; Donnai-Barrow syndrome; Facio-oculo-acoustico-renal syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome (ORPHA:2143)
Gene: LRP2
Phenotype: Proteinuria (HP:0000093)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)