TaoMedAI/RareMedData huggingface dataset:
Gene: TOM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Erythroderma (HP:0001019)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Tube feeding (HP:0033454)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Villous atrophy (HP:0011473)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: TOM1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Gene: MAMLD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Urethral diverticulum (HP:0008722)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Micropenis (HP:0000054)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Micropenis (HP:0000054)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HYPOSPADIAS 2, X-LINKED (OMIM:300758)
Gene: MAMLD1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Blind vagina (HP:0040314)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Androgen insufficiency (HP:0008226)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOSPADIAS 2, X-LINKED (OMIM:300758)
Gene: MAMLD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: HYPOSPADIAS 2, X-LINKED (OMIM:300758)
Gene: MAMLD1
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Anxiety (HP:0000739)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Depression (HP:0000716)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Thin ribs (HP:0000883)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Penile hypospadias (HP:0003244)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Retrognathia (HP:0000278)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: High palate (HP:0000218)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Gene: MAMLD1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: MAMLD1
Phenotype: Ventral shortening of foreskin (HP:0012435)
Associated disease: Non-syndromic posterior hypospadias; Perineal, scrotal or penoscrotal hypospadias; Hypospadias, severe form (ORPHA:95706)
Gene: DNAJB6
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Dysarthria (HP:0001260)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Dysphagia (HP:0002015)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Dysphagia (HP:0002015)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Dyspnea (HP:0002094)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Skeletal muscle fibrosis (HP:0030951)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Percussion myotonia (HP:0010548)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Facial palsy (HP:0010628)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Difficulty running (HP:0009046)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: DNAJB6
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Gene: DNAJB6
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: LGMD type 1D; DNAJB6-related LGMD D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; Limb-girdle muscular dystrophy type 1D; DNAJB6-related limb-girdle muscular dystrophy D1; LGMD1D (ORPHA:34516)
Gene: GJC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJC1
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJC1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJC1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJC1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJC1
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: GJC1
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: UBA2
Phenotype: Duane anomaly (HP:0009921)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Motor delay (HP:0001270)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Congenital localized absence of skin (HP:0007383)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Erythema (HP:0010783)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Aplasia cutis congenita over the scalp vertex (HP:0004471)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Tactile hypersensitivity (HP:5200061)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Retrognathia (HP:0000278)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: High forehead (HP:0000348)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Strabismus (HP:0000486)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: UBA2
Phenotype: Protruding ear (HP:0000411)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: UBA2
Phenotype: Split foot (HP:0001839)
Associated disease: ACCES SYNDROME (OMIM:619959)
Gene: FARSB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Seizure (HP:0001250)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Hypotonia (HP:0001252)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Cholestasis (HP:0001396)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Cirrhosis (HP:0001394)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Anasarca (HP:0012050)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Small scrotum (HP:0000046)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Specific learning disability (HP:0001328)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Scoliosis (HP:0002650)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Tachypnea (HP:0002789)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Decreased liver function (HP:0001410)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Portal hypertension (HP:0001409)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Rickets (HP:0002748)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)