TaoMedAI/RareMedData huggingface dataset:
Gene: PMP22
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Ulnar claw (HP:0001178)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Split hand (HP:0001171)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Split hand (HP:0001171)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Anisocoria (HP:0009916)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Scapuloperoneal weakness (HP:0003704)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AIDP; Acute inflammatory polyneuropathy; Acute inflammatory demyelinating polyradiculoneuropathy; Acute idiopathic demyelinating polyneuropathy; Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form; GBS, acute inflammatory demyelinating polyradiculoneuropathic form (ORPHA:98916)
Gene: PMP22
Phenotype: Motor delay (HP:0001270)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Areflexia (HP:0001284)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Areflexia (HP:0001284)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Areflexia (HP:0001284)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: AIDP; Acute inflammatory polyneuropathy; Acute inflammatory demyelinating polyradiculoneuropathy; Acute idiopathic demyelinating polyneuropathy; Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form; GBS, acute inflammatory demyelinating polyradiculoneuropathic form (ORPHA:98916)
Gene: PMP22
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Inability to walk (HP:0002540)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Hand paresthesia (HP:0033660)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Tonic pupil (HP:0012074)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: AIDP; Acute inflammatory polyneuropathy; Acute inflammatory demyelinating polyradiculoneuropathy; Acute idiopathic demyelinating polyneuropathy; Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form; GBS, acute inflammatory demyelinating polyradiculoneuropathic form (ORPHA:98916)
Gene: PMP22
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Tremor (HP:0001337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GUILLAIN-BARRE SYNDROME, FAMILIAL (OMIM:139393)
Gene: PMP22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Gait ataxia (HP:0002066)
Associated disease: AIDP; Acute inflammatory polyneuropathy; Acute inflammatory demyelinating polyradiculoneuropathy; Acute idiopathic demyelinating polyneuropathy; Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form; GBS, acute inflammatory demyelinating polyradiculoneuropathic form (ORPHA:98916)
Gene: PMP22
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Steppage gait (HP:0003376)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Steppage gait (HP:0003376)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: AIDP; Acute inflammatory polyneuropathy; Acute inflammatory demyelinating polyradiculoneuropathy; Acute idiopathic demyelinating polyneuropathy; Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form; GBS, acute inflammatory demyelinating polyradiculoneuropathic form (ORPHA:98916)
Gene: PMP22
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Talipes calcaneovarus (HP:0008124)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Babinski sign (HP:0003487)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Cold-induced muscle cramps (HP:0003449)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Axonal loss (HP:0003447)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Broad-based gait (HP:0002136)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Thenar muscle weakness (HP:0003427)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: AIDP; Acute inflammatory polyneuropathy; Acute inflammatory demyelinating polyradiculoneuropathy; Acute idiopathic demyelinating polyneuropathy; Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form; GBS, acute inflammatory demyelinating polyradiculoneuropathic form (ORPHA:98916)
Gene: PMP22
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Postural tremor (HP:0002174)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Postural instability (HP:0002172)
Associated disease: Charcot-Marie-Tooth disease-hearing loss syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease-deafness syndrome; CMT1E (ORPHA:90658)
Gene: PMP22
Phenotype: Paresthesia (HP:0003401)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Paresthesia (HP:0003401)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Insidious onset (HP:0003587)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: Hereditary neuropathy with liability to pressure palsies; HNPP; Tulip-bulb digger's palsy; Potato-grubbing palsy; Heterozygous microdeletion 17p11.2p12; Tomaculous neuropathy; Current pressure-sensitive neuropathy (ORPHA:640)
Gene: PMP22
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)