TaoMedAI/RareMedData huggingface dataset:
Gene: INF2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Axonal loss (HP:0003447)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Adult onset (HP:0003581)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Gene: INF2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Hypertension (HP:0000822)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Gene: INF2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Gene: INF2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: MRPS25
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Poor head control (HP:0002421)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Motor delay (HP:0001270)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Dysphagia (HP:0002015)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Short stature (HP:0004322)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: MRPS25
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Gene: DNAI2
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Pneumonia (HP:0002090)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Gene: DNAI2
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAI2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TEKT3
Phenotype: Acrosomal hypoplasia (HP:0034913)
Associated disease: SPERMATOGENIC FAILURE 81 (OMIM:620277)
Gene: TEKT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 81 (OMIM:620277)
Gene: TEKT3
Phenotype: Multiple non-erupting secondary teeth (HP:0006321)
Associated disease: SPERMATOGENIC FAILURE 81 (OMIM:620277)
Gene: TEKT3
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 81 (OMIM:620277)
Gene: TEKT3
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 81 (OMIM:620277)
Gene: TEKT3
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 81 (OMIM:620277)
Gene: CLEC7A
Phenotype: Cheilitis (HP:0100825)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Seizure (HP:0001250)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CANDIDIASIS, FAMILIAL, 4 (OMIM:613108)
Gene: CLEC7A
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Hepatitis (HP:0012115)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Papule (HP:0200034)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Skin ulcer (HP:0200042)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Erythema (HP:0010783)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Cough (HP:0012735)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Hematuria (HP:0000790)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Pruritus (HP:0000989)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Skin rash (HP:0000988)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Onychomycosis (HP:0012203)
Associated disease: CANDIDIASIS, FAMILIAL, 4 (OMIM:613108)
Gene: CLEC7A
Phenotype: Recurrent vulvovaginal candidiasis (HP:0012204)
Associated disease: CANDIDIASIS, FAMILIAL, 4 (OMIM:613108)
Gene: CLEC7A
Phenotype: Dyspareunia (HP:0030016)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Broad nail (HP:0001821)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: CLEC7A
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: VPS16
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Seizure (HP:0001250)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Middle age onset (HP:0003596)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Impulsivity (HP:0100710)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Leg dystonia (HP:0031959)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Arm dystonia (HP:0031960)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Globus pallidus hypointensity on susceptibility-weighted imaging (HP:0033049)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: VPS16
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 30 (OMIM:619291)
Gene: ANAPC1
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Calcinosis (HP:0003761)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Gene: ANAPC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)
Gene: ANAPC1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: RTS1; Poikiloderma of Rothmund-Thomson type 1; Rothmund-Thomson syndrome type 1 (ORPHA:221008)