TaoMedAI/RareMedData huggingface dataset:
Gene: MEGF8
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Broad neck (HP:0000475)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Short neck (HP:0000470)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Webbed neck (HP:0000465)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Wide nose (HP:0000445)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Polysplenia (HP:0001748)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Protruding ear (HP:0000411)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Blue sclerae (HP:0000592)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EGFR
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: EGFR
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Otitis externa (HP:0410017)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: EGFR
Phenotype: Vomiting (HP:0002013)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Recurrent bronchiolitis (HP:0100501)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Congenital onset (HP:0003577)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Chronic monilial nail infection (HP:0008396)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Papule (HP:0200034)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Pustule (HP:0200039)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Pustule (HP:0200039)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Erythema (HP:0010783)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Dehydration (HP:0001944)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Slow-growing scalp hair (HP:0100038)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Hypertension (HP:0000822)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Chapped lip (HP:0040181)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Scaling skin (HP:0040189)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: EGFR
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Anal fissure (HP:0012390)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: EGFR
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Blepharitis (HP:0000498)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Perianal dermatitis (HP:0011131)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Long eyelashes (HP:0000527)
Associated disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Gene: EGFR
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGFR
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: EGFR
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Gene: EGR2
Phenotype: Ulnar claw (HP:0001178)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Split hand (HP:0001171)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Areflexia (HP:0001284)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Steppage gait (HP:0003376)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Hypertrophic nerve changes (HP:0003382)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Gene: EGR2
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Gene: EGR2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Myelin tomacula (HP:0030175)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Pes planus (HP:0001763)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Hammertoe (HP:0001765)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EGR2
Phenotype: Pes cavus (HP:0001761)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EHHADH
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Bone pain (HP:0002653)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Rickets (HP:0002748)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Infantile onset (HP:0003593)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Bicarbonaturia (HP:0003646)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Bicarbonate-wasting renal tubular acidosis (HP:0004910)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Dehydration (HP:0001944)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Glycosuria (HP:0003076)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Glycosuria (HP:0003076)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Growth delay (HP:0001510)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Growth delay (HP:0001510)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Gene: EHHADH
Phenotype: Abnormal urine pH (HP:0032943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EHHADH
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: EIF2B1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)
Gene: EIF2B1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (OMIM:603896)