TaoMedAI/RareMedData huggingface dataset:
Gene: FKBP14
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FKBP14
Phenotype: Myopia (HP:0000545)
Associated disease: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness; Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss; Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency; FKBP14-related EDS; kEDS-FKBP14; Kyphoscoliotic EDS due to FKBP22 deficiency; FKBP22-deficient EDS (ORPHA:300179)
Gene: FKBP14
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: MOCOS
Phenotype: Xanthinuria (HP:0010934)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Hyperxanthinemia (HP:0010933)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Myalgia (HP:0003326)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Increased urinary hypoxanthine level (HP:0011814)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Middle age onset (HP:0003596)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Hypouricemia (HP:0003537)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Childhood onset (HP:0011463)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: MOCOS
Phenotype: Increased circulating hypoxanthine concentration (HP:0034333)
Associated disease: XANTHINURIA, TYPE II (OMIM:603592)
Gene: CCDC40
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Wheezing (HP:0030828)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormal axonemal organization of respiratory motile cilia (HP:0012258)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Immotile sperm (HP:0012208)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Gene: CCDC40
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC40
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: PTCD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Myoclonus (HP:0001336)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Rigidity (HP:0002063)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Severe short stature (HP:0003510)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Focal T2 hyperintense thalamic lesion (HP:0012692)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Caesarean section (HP:0011410)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Growth delay (HP:0001510)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: PTCD3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Gene: SLC52A1
Phenotype: Lethargy (HP:0001254)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Poor suck (HP:0002033)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Hypothermia (HP:0002045)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Decreased circulating vitamin B2 concentration (HP:0100504)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: SLC52A1
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Gene: RNF31
Phenotype: Intestinal lymphangiectasia (HP:0002593)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410305)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Clubbing (HP:0001217)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Superficial dermal perivascular inflammatory infiltrate (HP:0031190)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Candida esophagitis (HP:0033351)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Verrucae (HP:0200043)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Decreased memory T cell proportion (HP:0032183)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Elevated haptoglobin level (HP:0020180)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: RNF31
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Gene: OXR1
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Tremor (HP:0001337)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: OXR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY (OMIM:213000)
Gene: IFT57
Phenotype: Brachydactyly (HP:0001156)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Cleft lip (HP:0410030)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Diastema (HP:0000699)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Short stature (HP:0004322)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Cervical ribs (HP:0000891)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Genu valgum (HP:0002857)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Small forehead (HP:0000350)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Square face (HP:0000321)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Short philtrum (HP:0000322)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Sandal gap (HP:0001852)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: IFT57
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Gene: SOBP
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Open bite (HP:0010807)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Amblyopia (HP:0000646)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)