TaoMedAI/RareMedData huggingface dataset:
Gene: RAI1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Language impairment (HP:0002463)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Distal muscle weakness (HP:0002460)
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: Expressive language delay (HP:0002474)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormal middle ear morphology (HP:0008609)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Receptive language delay (HP:0010863)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Iris nodule (HP:0034819)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Sporadic (HP:0003745)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Sporadic (HP:0003745)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Motor delay (HP:0001270)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Areflexia (HP:0001284)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Seizure (HP:0001250)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Seizure (HP:0001250)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Seizure (HP:0001250)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Brain imaging abnormality (HP:0410263)
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: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Joint hypermobility (HP:0001382)
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: Polyembolokoilamania (HP:0032508)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Polyembolokoilamania (HP:0032508)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Onychotillomania (HP:0032509)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Onychotillomania (HP:0032509)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Feeding difficulties in infancy (HP:0008872)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Overriding aorta (HP:0002623)
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: Open mouth (HP:0000194)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Head-banging (HP:0012168)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Wide mouth (HP:0000154)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Floppy infant (HP:0008947)
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 genitourinary system (HP:0000119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Self hugging (HP:0032521)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Constipation (HP:0002019)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Constipation (HP:0002019)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: 2-3 toe syndactyly (HP:0004691)
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: Morphological central nervous system abnormality (HP:0002011)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Syringomyelia (HP:0003396)
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: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
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: Hypertriglyceridemia (HP:0002155)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Broad-based gait (HP:0002136)
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: Spontaneous pneumothorax (HP:0002108)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Echolalia (HP:0010529)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Echolalia (HP:0010529)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
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: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Large face (HP:0100729)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Vocal cord polyp (HP:0032041)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Aphasia (HP:0002381)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Aphasia (HP:0002381)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Distal amyotrophy (HP:0003693)
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: Sleep abnormality (HP:0002360)
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: Sleep abnormality (HP:0002360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Open bite (HP:0010807)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Hyperacusis (HP:0010780)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Aortic aneurysm (HP:0004942)
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: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Sleep-wake inversion (HP:0031849)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Short palm (HP:0004279)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Short REM sleep (HP:5200360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Abnormal pineal melatonin secretion (HP:0012689)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
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: Dental crowding (HP:0000678)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Abnormal facial shape (HP:0001999)
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: Synophrys (HP:0000664)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Synophrys (HP:0000664)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Increased body weight (HP:0004324)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Short stature (HP:0004322)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Short stature (HP:0004322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Short stature (HP:0004322)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Short stature (HP:0004322)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormal tracheobronchial morphology (HP:0005607)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormal tracheobronchial morphology (HP:0005607)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: RAI1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Trisomy 17p11.2; Potocki-Lupski syndrome; 17p11.2 microduplication syndrome (ORPHA:1713)
Gene: RAI1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Delayed ability to walk (HP:0031936)
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: Hyperactivity (HP:0000752)
Associated disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Gene: RAI1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: RAI1
Phenotype: Sensory neuropathy (HP:0000763)
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)