TaoMedAI/RareMedData huggingface dataset:
Gene: LRP2
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Abnormality of the uterus (HP:0000130)
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: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Non-acidotic proximal tubulopathy (HP:0005574)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Iris coloboma (HP:0000612)
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: Iris coloboma (HP:0000612)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
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: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Short nose (HP:0003196)
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: Short nose (HP:0003196)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Short sternum (HP:0000879)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Bicornuate uterus (HP:0000813)
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: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Wide anterior fontanel (HP:0000260)
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 anterior fontanel (HP:0000260)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Macrocephaly (HP:0000256)
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: Macrocephaly (HP:0000256)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Umbilical hernia (HP:0001537)
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: Umbilical hernia (HP:0001537)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Omphalocele (HP:0001539)
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: Omphalocele (HP:0001539)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Posteriorly rotated ears (HP:0000358)
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: Posteriorly rotated ears (HP:0000358)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: High myopia (HP:0011003)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Broad forehead (HP:0000337)
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: Widow's peak (HP:0000349)
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: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Ventricular septal defect (HP:0001629)
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: Ventricular septal defect (HP:0001629)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Depressed nasal bridge (HP:0005280)
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: Depressed nasal bridge (HP:0005280)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Downslanted palpebral fissures (HP:0000494)
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: Downslanted palpebral fissures (HP:0000494)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: LRP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Cataract (HP:0000518)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Progressive visual loss (HP:0000529)
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: Proptosis (HP:0000520)
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: Proptosis (HP:0000520)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Retinal dystrophy (HP:0000556)
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: Retinal dystrophy (HP:0000556)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: LRP2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Retinal detachment (HP:0000541)
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: Retinal detachment (HP:0000541)
Associated disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Gene: LRP2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: LRP2
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: LRP2
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)