TaoMedAI/RareMedData huggingface dataset:
Gene: TRPV4
Phenotype: Irregular capital femoral epiphysis (HP:0005041)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Anisospondyly (HP:0002879)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Genu valgum (HP:0002857)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Genu valgum (HP:0002857)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Abnormal ilium morphology (HP:0002867)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Flared femoral metaphysis (HP:0002834)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Long coccyx (HP:0002831)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Growth delay (HP:0001510)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Groin pain (HP:0031520)
Associated disease: Familial osteonecrosis of the femoral head; Familial avascular necrosis of femoral head (ORPHA:86820)
Gene: TRPV4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Hoarse voice (HP:0001609)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: High forehead (HP:0000348)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: High forehead (HP:0000348)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: High forehead (HP:0000348)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Micromelia (HP:0002983)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Radial bowing (HP:0002986)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Genu varum (HP:0002970)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Increased intervertebral space (HP:0030320)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: METATROPIC DYSPLASIA (OMIM:156530)
Gene: TRPV4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Torticollis (HP:0000473)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Short neck (HP:0000470)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Short neck (HP:0000470)
Associated disease: PARASTREMMATIC DWARFISM (OMIM:168400)
Gene: TRPV4
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
Gene: TRPV4
Phenotype: Hammertoe (HP:0001765)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE (OMIM:184252)
Gene: TRPV4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII (OMIM:600175)
Gene: TRPV4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Pes cavus (HP:0001761)
Associated disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (OMIM:606071)
Gene: TRPV4
Phenotype: Flattened femoral epiphysis (HP:0030289)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Cataract (HP:0000518)
Associated disease: Metatropic dysplasia; Metatropic dwarfism (ORPHA:2635)
Gene: TRPV4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
Gene: TRPV4
Phenotype: Short distal phalanx of toe (HP:0001857)
Associated disease: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL (OMIM:606835)
Gene: TRPV4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Short toe (HP:0001831)
Associated disease: Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
Gene: TRPV4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BRACHYOLMIA TYPE 3 (OMIM:113500)
Gene: TRPV4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALOXE3
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Self-improving collodion baby; Self-healing collodion baby; Self-improving congenital ichthyosis; SICI; SHCB (ORPHA:281122)
Gene: ALOXE3
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Paralysis (HP:0003470)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Ectropion (HP:0000656)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Self-improving collodion baby; Self-healing collodion baby; Self-improving congenital ichthyosis; SICI; SHCB (ORPHA:281122)
Gene: ALOXE3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Short finger (HP:0009381)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Alopecia (HP:0001596)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Growth delay (HP:0001510)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: ALOXE3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Eclabion (HP:0012472)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Gene: ALOXE3
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: ALOXE3
Phenotype: Small nail (HP:0001792)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Short toe (HP:0001831)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: ALOXE3
Phenotype: Thin nail (HP:0001816)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Gene: GNB4
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Axonal regeneration (HP:0003450)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: GNB4
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
Gene: SLC25A19
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Spina bifida (HP:0002414)
Associated disease: Amish lethal microcephaly (ORPHA:99742)