TaoMedAI/RareMedData huggingface dataset:
Gene: RAI1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Anxiety (HP:0000739)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Anxiety (HP:0000739)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Autism (HP:0000717)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Autism (HP:0000717)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Short nose (HP:0003196)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Pes valgus (HP:0008081)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Broad face (HP:0000283)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Malar flattening (HP:0000272)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Microcephaly (HP:0000252)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: High palate (HP:0000218)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Obesity (HP:0001513)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Long philtrum (HP:0000343)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Broad forehead (HP:0000337)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Micrognathia (HP:0000347)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Square face (HP:0000321)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Square face (HP:0000321)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Abnormal forearm morphology (HP:0002973)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Triangular face (HP:0000325)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Triangular face (HP:0000325)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Triangular face (HP:0000325)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Strabismus (HP:0000486)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Strabismus (HP:0000486)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Strabismus (HP:0000486)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Microcornea (HP:0000482)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Pes planus (HP:0001763)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Pes planus (HP:0001763)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Pes planus (HP:0001763)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Wide nose (HP:0000445)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Sandal gap (HP:0001852)
Associated disease: PMP22-RAI1 contiguous gene duplication syndrome; Yuan-Harel-Lupski syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2p12; Trisomy 17p11.2-p12; 17p11.2p12 microduplication syndrome (ORPHA:477817)
Gene: RAI1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Myopia (HP:0000545)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Myopia (HP:0000545)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: MASP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MASP2 DEFICIENCY (OMIM:613791)
Gene: MASP2
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: MASP2 DEFICIENCY (OMIM:613791)
Gene: MASP2
Phenotype: Reduced circulating complement concentration (HP:0004431)
Associated disease: MASP2 DEFICIENCY (OMIM:613791)
Gene: MASP2
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: MASP2 DEFICIENCY (OMIM:613791)
Gene: MASP2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MASP2 DEFICIENCY (OMIM:613791)
Gene: KIF1C
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Head titubation (HP:0002599)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Spasticity (HP:0001257)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Erratic myoclonus (HP:0025357)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)