TaoMedAI/RareMedData huggingface dataset:
Gene: PMP22
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Distal amyotrophy (HP:0003693)
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: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Frequent falls (HP:0002359)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Action tremor (HP:0002345)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Slowly progressive (HP:0003677)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Unsteady gait (HP:0002317)
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 tactile sensation (HP:0010830)
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: Spontaneous pain sensation (HP:0010833)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Abnormality of pain sensation (HP:0010832)
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 temperature sensation (HP:0010829)
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 temperature sensation (HP:0010829)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Peripheral neuropathy (HP:0009830)
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: Froment sign (HP:0032121)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Sensorimotor neuropathy (HP:0007141)
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: Acute demyelinating polyneuropathy (HP:0007131)
Associated disease: GUILLAIN-BARRE SYNDROME, FAMILIAL (OMIM:139393)
Gene: PMP22
Phenotype: Acute demyelinating polyneuropathy (HP:0007131)
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: Acute demyelinating polyneuropathy (HP:0007131)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Acute demyelinating polyneuropathy (HP:0007131)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
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: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Clumsiness (HP:0002312)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Drooling (HP:0002307)
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: Juvenile onset (HP:0003621)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Cranial nerve paralysis (HP:0006824)
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: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Nystagmus (HP:0000639)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Abnormal pupil morphology (HP:0000615)
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: Recurrent fever (HP:0001954)
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: Distal lower limb muscle weakness (HP:0009053)
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: Distal lower limb muscle weakness (HP:0009053)
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: Distal lower limb muscle weakness (HP:0009053)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Peroneal muscle atrophy (HP:0009049)
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: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Foot dorsiflexor weakness (HP:0009027)
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: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Myelin outfoldings (HP:0004336)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Cough (HP:0012735)
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: Decreased nerve conduction velocity (HP:0000762)
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: Profound sensorineural hearing impairment (HP:0011476)
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: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Hand muscle atrophy (HP:0009130)
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: Diaphragmatic weakness (HP:0009113)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Shoulder pain (HP:0030834)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Genu valgum (HP:0002857)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Ankle weakness (HP:0031374)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
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: Abnormality of the voice (HP:0001608)
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 sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Distal sensory impairment (HP:0002936)
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: Distal sensory impairment (HP:0002936)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Vocal cord paralysis (HP:0001605)
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: Increased CSF protein concentration (HP:0002922)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Tinnitus (HP:0000360)
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: Myelin tomacula (HP:0030175)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Sleepy facial expression (HP:0005335)
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: Sensorineural hearing impairment (HP:0000407)
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: Sensorineural hearing impairment (HP:0000407)
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: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Slow pupillary light response (HP:0030211)
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: Hand muscle weakness (HP:0030237)
Associated disease: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES (OMIM:162500)
Gene: PMP22
Phenotype: Hand muscle weakness (HP:0030237)
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: Pes planus (HP:0001763)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Hammertoe (HP:0001765)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Hammertoe (HP:0001765)
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: Hammertoe (HP:0001765)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Pes cavus (HP:0001761)
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: Pes cavus (HP:0001761)
Associated disease: Charcot-Marie-Tooth disease type 1A; Microduplication 17p12; CMT1A (ORPHA:101081)
Gene: PMP22
Phenotype: Pes cavus (HP:0001761)
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: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Pes cavus (HP:0001761)
Associated disease: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA (OMIM:180800)
Gene: PMP22
Phenotype: Pes cavus (HP:0001761)
Associated disease: Hereditary areflexic dystasia, Roussy-Lévy type; Roussy-Lévy syndrome (ORPHA:3115)
Gene: PMP22
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A (OMIM:118220)
Gene: PMP22
Phenotype: Pes cavus (HP:0001761)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PMP22
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS (OMIM:118300)
Gene: PMP22
Phenotype: Dysesthesia (HP:0012534)
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: PMS1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYNCH SYNDROME I (OMIM:120435)
Gene: PMS1
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Constipation (HP:0002019)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Migraine (HP:0002076)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Colon cancer (HP:0003003)
Associated disease: LYNCH SYNDROME I (OMIM:120435)
Gene: PMS1
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PMS1
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)