TaoMedAI/RareMedData huggingface dataset:
Gene: TREM2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Semantic dementia (HP:0030219)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TREM2
Phenotype: Visual agnosia (HP:0030222)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TREM2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TREM2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TREM2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TREM2
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TREM2
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDAP1
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Split hand (HP:0001171)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Decreased number of small peripheral myelinated nerve fibers (HP:0007249)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Clusters of axonal regeneration (HP:0007233)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CMT2K; Autosomal dominant Charcot-Marie-Tooth disease type 2K (ORPHA:99944)
Gene: GDAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Limited interphalangeal movement (HP:0006064)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Motor conduction block (HP:0012078)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Axonal regeneration (HP:0003450)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Axonal loss (HP:0003447)
Associated disease: ARCMT2K; Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Gene: GDAP1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Basal lamina onion bulb formation (HP:0003400)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Gene: GDAP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: CMT4A; Charcot-Marie-Tooth disease type 4A (ORPHA:99948)
Gene: GDAP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: GDAP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Gene: GDAP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Gene: GDAP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)